Variant report

Variant	rs6950
Chromosome Location	chr16:30995669-30995670
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:61)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30993812-30997109	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr16:30995589-30996864	GM12892	blood:	n/a	n/a
3	POLR2A	chr16:30995235-30995829	K562	blood:	n/a	n/a
4	CTCF	chr16:30995540-30995690	GM12873	blood:	n/a	n/a
5	POLR2A	chr16:30995368-30996962	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:30993781-30996725	K562	blood:	n/a	n/a
7	POLR2A	chr16:30995462-30996936	H1-neurons	neurons:	n/a	n/a
8	RAD21	chr16:30995658-30997269	SK-N-SH	brain:	n/a	chr16:30996434-30996453 chr16:30996439-30996449 chr16:30996927-30996940 chr16:30996929-30996939 chr16:30996929-30996941 chr16:30996437-30996450 chr16:30996924-30996943 chr16:30996923-30996937
9	POLR2A	chr16:30995627-30998436	HepG2	liver:	n/a	n/a
10	POLR2A	chr16:30994201-30995749	K562	blood:	n/a	n/a
11	POLR2A	chr16:30995483-30996731	GM12892	blood:	n/a	n/a
12	CTCF	chr16:30995640-30995790	GM12874	blood:	n/a	n/a
13	POLR2A	chr16:30995521-30997013	A549	lung:	n/a	n/a
14	POLR2A	chr16:30993791-30997093	K562	blood:	n/a	n/a
15	POLR2A	chr16:30995655-30996725	PANC-1	pancreas:	n/a	n/a
16	MAZ	chr16:30995407-30998406	IMR90	lung:	n/a	chr16:30997635-30997645 chr16:30998097-30998107
17	POLR2A	chr16:30995396-30996847	K562	blood:	n/a	n/a
18	CTCF	chr16:30995640-30995790	HBMEC	blood vessel:	n/a	n/a
19	POLR2A	chr16:30995502-30995944	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr16:30995407-30995774	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr16:30995600-30995750	SK-N-SH_RA	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:30995627-30995677	GM12891	blood:	n/a
2	chr16:30995627-30995677	Hepatocyte	liver:	n/a
3	chr16:30995627-30995677	CMK	blood:	n/a
4	chr16:30995627-30995677	GM12892	blood:	n/a
5	chr16:30995627-30995677	BE2_C	brain:	n/a
6	chr16:30995627-30995677	MCF10A-Er-Src	breast:	n/a
7	chr16:30995627-30995677	HIPEpiC	eye:	n/a
8	chr16:30995627-30995677	BJ	skin:	n/a
9	chr16:30995627-30995677	PFSK-1	brain:	n/a
10	chr16:30995627-30995677	AG09319	gingival:	n/a
11	chr16:30995627-30995677	Caco-2	colon:	n/a
12	chr16:30995627-30995677	NT2-D1	testis:	n/a
13	chr16:30995627-30995677	NB4	blood:	n/a
14	chr16:30995627-30995677	HL-60	blood:	n/a
15	chr16:30995627-30995677	HPAEpiC	pulmonary alveolar:	n/a
16	chr16:30995627-30995677	HRE	kidney:	n/a
17	chr16:30995627-30995677	HRPEpiC	eye:	n/a
18	chr16:30995627-30995677	SKMC	muscle:	n/a
19	chr16:30995627-30995677	GM12878	blood:	n/a
20	chr16:30995627-30995677	Hela-S3	cervix:	n/a
21	chr16:30995627-30995677	IMR90	lung:	fetal
22	chr16:30995627-30995677	NHBE	bronchial:	n/a
23	chr16:30995627-30995677	HCF	heart:	n/a
24	chr16:30995627-30995677	ProgFib	skin:	n/a
25	chr16:30995627-30995677	HEEpiC	esophagus:	n/a
26	chr16:30995627-30995677	ovcar-3	ovarian:	n/a
27	chr16:30995627-30995677	NH-A	brain:	n/a
28	chr16:30995627-30995677	AoSMC	blood vessel:	n/a
29	chr16:30995627-30995677	HRCEpiC	kidney:	n/a
30	chr16:30995627-30995677	MCF-7	breast:	n/a
31	chr16:30995627-30995677	SK-N-MC	brain:	n/a
32	chr16:30995627-30995677	HAEpiC	amniotic membrane:	n/a
33	chr16:30995627-30995677	HNPCEpiC	eye:	n/a
34	chr16:30995627-30995677	HCM	heart:	n/a
35	chr16:30995627-30995677	AG10803	skin:	n/a
36	chr16:30995627-30995677	HEK293	kidney:	embryo
37	chr16:30995627-30995677	U87	brain:	n/a
38	chr16:30995627-30995677	T-47D	breast:	n/a
39	chr16:30995627-30995677	ECC-1	luminal epithelium:	n/a
40	chr16:30995627-30995677	AG09309	skin:	n/a
41	chr16:30995627-30995677	K562	blood:	n/a
42	chr16:30995627-30995677	HCT-116	colon:	n/a
43	chr16:30995627-30995677	HepG2	liver:	n/a
44	chr16:30995627-30995677	HUVEC	blood vessel:	n/a
45	chr16:30995627-30995677	Jurkat	blood:	n/a
46	chr16:30995627-30995677	PANC-1	pancreas:	n/a
47	chr16:30995627-30995677	AG04450	lung:	fetal
48	chr16:30995627-30995677	HMEC	breast:	n/a
49	chr16:30995627-30995677	LNCaP	prostate:	n/a
50	chr16:30995627-30995677	NHDF-neo	bronchial:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30967808..30970715-chr16:30993015..30997033,4	K562	blood:
2	chr16:30995668..30998324-chr16:31452360..31454476,3	K562	blood:
3	chr16:30993142..30995962-chr16:31096037..31098055,3	K562	blood:
4	chr16:30994765..30996927-chr16:31470856..31472697,2	K562	blood:
5	chr16:30995579..30998238-chr16:31190564..31192933,4	MCF-7	breast:
6	chr16:30994943..30999750-chr16:31190298..31195127,7	K562	blood:
7	chr16:30995638..30997439-chr16:31453989..31455766,2	MCF-7	breast:
8	chr16:30995614..30997956-chr16:31470611..31472906,2	MCF-7	breast:
9	chr16:30994008..30999750-chr16:31190407..31194686,5	K562	blood:
10	chr16:30993751..31000588-chr16:31082470..31087271,14	MCF-7	breast:
11	chr16:30994248..30997173-chr16:31043016..31046845,4	K562	blood:
12	chr16:30968101..30970312-chr16:30994646..30997121,3	MCF-7	breast:
13	chr16:30994262..30997879-chr16:31200586..31204219,3	K562	blood:
14	chr16:30991043..31010547-chr16:31082350..31088728,42	MCF-7	breast:
15	chr16:30992410..30996459-chr16:31119863..31122680,3	MCF-7	breast:
16	chr16:30993478..30998928-chr16:31103966..31108613,11	MCF-7	breast:
17	chr16:30995577..30998794-chr16:31467620..31471183,4	MCF-7	breast:
18	chr16:30993514..30995792-chr16:31196073..31198582,2	MCF-7	breast:
19	chr16:30994885..31002476-chr16:31041204..31046530,9	MCF-7	breast:
20	chr16:30995366..30997763-chr16:31105871..31107631,3	K562	blood:
21	chr16:30993343..30997625-chr16:31144805..31148510,3	MCF-7	breast:

No data

Variant related genes	Relation type
HSD3B7	TF binding region
HSD3B7	CpG island
ENSG00000167395	Chromatin interaction
ENSG00000052344	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000103496	Chromatin interaction
ENSG00000255439	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000252809	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000167397	Chromatin interaction
ENSG00000176723	Chromatin interaction
ENSG00000260304	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs1046276	0.82[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1060506	0.89[JPT][hapmap]
rs10782001	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10782002	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10871454	0.89[JPT][hapmap]
rs11076	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11150600	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11150601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11150604	0.89[JPT][hapmap]
rs11640534	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11640961	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11649653	1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs11862744	0.91[CEU][hapmap];0.89[JPT][hapmap]
rs11864839	0.82[JPT][hapmap]
rs11865038	0.82[CEU][hapmap];0.89[JPT][hapmap]
rs11865499	0.89[JPT][hapmap]
rs12445568	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12445650	0.91[CEU][hapmap];0.88[JPT][hapmap]
rs12447930	0.86[EUR][1000 genomes]
rs12597511	0.89[JPT][hapmap]
rs12599631	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12716978	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12917722	0.95[ASN][1000 genomes]
rs12924903	0.82[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12928852	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12930545	1.00[CHB][hapmap];0.83[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12930657	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12931046	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12934900	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13336347	0.95[ASN][1000 genomes]
rs13708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs14235	0.89[JPT][hapmap]
rs1458201	1.00[CHB][hapmap]
rs1458202	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1549293	0.89[JPT][hapmap]
rs1870293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978487	0.89[JPT][hapmap]
rs2032915	0.89[JPT][hapmap]
rs2054213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2199036	0.87[EUR][1000 genomes]
rs2303222	0.89[JPT][hapmap]
rs2303223	0.89[JPT][hapmap]
rs2305880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2305884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2359612	0.89[JPT][hapmap]
rs28360557	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2855475	0.89[JPT][hapmap]
rs34873012	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35468353	0.91[CEU][hapmap];0.89[JPT][hapmap]
rs35675346	1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs35733741	0.95[ASN][1000 genomes]
rs3751855	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs3813020	0.82[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4468641	0.83[CEU][hapmap];0.89[JPT][hapmap]
rs4502227	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4527034	0.89[JPT][hapmap]
rs4889514	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4889525	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889571	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4889599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889603	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4889604	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889606	1.00[JPT][hapmap]
rs4889609	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs4889685	0.88[EUR][1000 genomes]
rs61239537	0.84[EUR][1000 genomes]
rs62055866	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6565217	0.83[CEU][hapmap];0.89[JPT][hapmap]
rs7184567	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs7196726	0.83[CEU][hapmap];0.89[JPT][hapmap]
rs7197717	0.83[CEU][hapmap];0.89[JPT][hapmap]
rs7199949	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs7200879	1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs7203999	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7204459	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7206511	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72799341	0.84[ASN][1000 genomes]
rs72800847	0.81[EUR][1000 genomes]
rs7294	0.83[CEU][hapmap];0.89[JPT][hapmap]
rs729482	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes]
rs732172	0.91[CEU][hapmap];0.89[JPT][hapmap]
rs749670	0.88[JPT][hapmap]
rs749671	0.89[JPT][hapmap]
rs749767	0.89[JPT][hapmap]
rs750952	0.83[CEU][hapmap];0.89[JPT][hapmap]
rs8046707	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs8050588	0.82[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8050894	0.89[JPT][hapmap]
rs8052245	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8056842	0.91[CEU][hapmap];0.89[JPT][hapmap]
rs8060857	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8062719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs881929	0.89[JPT][hapmap]
rs889548	0.89[JPT][hapmap]
rs889555	0.89[JPT][hapmap]
rs897986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9319588	0.83[CEU][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9923231	0.89[JPT][hapmap]
rs9926533	1.00[JPT][hapmap]
rs9934438	0.89[JPT][hapmap]
rs9936329	0.89[JPT][hapmap]
rs9938050	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9938550	0.95[CEU][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9939417	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
5	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
6	nsv905733	chr16:30796919-31004812	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
7	nsv833190	chr16:30845051-31007863	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
8	nsv833191	chr16:30864242-31048051	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
9	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
10	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
11	nsv905737	chr16:30900235-31014179	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
12	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
13	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
14	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
15	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
16	nsv916994	chr16:30971725-31078117	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
17	nsv905739	chr16:30991948-31004169	ZNF genes & repeats Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6950	HSD3B7	cis	Esophagus Mucosa	GTEx
rs6950	HSD3B7	cis	Muscle Skeletal	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30970400-30996200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr16:30970400-30996400	Weak transcription	Right Atrium	heart
3	chr16:30970400-30996600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr16:30970600-30995800	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr16:30970600-30995800	Strong transcription	Left Ventricle	heart
6	chr16:30970600-30996000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
7	chr16:30970600-30996000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr16:30970600-30996200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr16:30970600-30996200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr16:30970600-30996200	Strong transcription	Placenta	Placenta
11	chr16:30970600-30996400	Strong transcription	Fetal Intestine Large	intestine
12	chr16:30970600-30996400	Strong transcription	Fetal Intestine Small	intestine
13	chr16:30970800-30995800	Strong transcription	Ovary	ovary
14	chr16:30970800-30995800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr16:30970800-30996000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr16:30970800-30996000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr16:30970800-30996000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr16:30970800-30996000	Strong transcription	Brain Cingulate Gyrus	brain
19	chr16:30970800-30996000	Strong transcription	Fetal Stomach	stomach
20	chr16:30970800-30996200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:30970800-30996200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr16:30970800-30996200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr16:30970800-30996200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr16:30970800-30996200	Strong transcription	Brain Hippocampus Middle	brain
25	chr16:30970800-30996200	Strong transcription	Fetal Thymus	thymus
26	chr16:30970800-30996200	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr16:30970800-30999400	Strong transcription	Primary T cells from cord blood	blood
28	chr16:30971000-30995800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr16:30971000-30996000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr16:30971000-30996000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr16:30971000-30996200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr16:30971000-30996200	Strong transcription	Brain Anterior Caudate	brain
33	chr16:30971000-30996200	Strong transcription	Pancreas	Pancrea
34	chr16:30971000-30996200	Strong transcription	Right Ventricle	heart
35	chr16:30971000-30996200	Strong transcription	HepG2	liver
36	chr16:30971000-30996400	Strong transcription	Fetal Brain Female	brain
37	chr16:30971200-30995800	Strong transcription	Liver	Liver
38	chr16:30971200-30996000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr16:30971400-30996000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr16:30971400-30996000	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr16:30971400-30996200	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr16:30971400-30996200	Strong transcription	Colon Smooth Muscle	Colon
43	chr16:30971400-30996200	Strong transcription	Gastric	stomach
44	chr16:30971600-30995800	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr16:30971600-30996200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr16:30971600-30996400	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr16:30971800-30996000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr16:30971800-30996400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr16:30973000-30996400	Strong transcription	Lung	lung
50	chr16:30973000-30996400	Strong transcription	Dnd41	blood

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