Variant report

Variant	rs35699948
Chromosome Location	chr18:12702705-12702706
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:406)
CpG islands
(count:61)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:406 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:12702376-12703371	GM12878	blood:	n/a	n/a
2	REST	chr18:12702461-12702777	PFSK-1	brain:	n/a	chr18:12702702-12702712 chr18:12702672-12702682 chr18:12702466-12702476
3	PML	chr18:12702507-12702913	GM12878	blood:	n/a	n/a
4	NFIC	chr18:12702499-12703220	HepG2	liver:	n/a	n/a
5	TAF7	chr18:12702175-12703302	H1-hESC	embryonic stem cell:	n/a	n/a
6	YY1	chr18:12702507-12703311	H1-hESC	embryonic stem cell:	n/a	chr18:12702598-12702609
7	YY1	chr18:12702298-12703359	SK-N-SH	brain:	n/a	chr18:12702598-12702609 chr18:12702415-12702426
8	ELK1	chr18:12702575-12703098	K562	blood:	n/a	n/a
9	POLR2A	chr18:12702159-12704052	GM12891	blood:	n/a	n/a
10	CHD1	chr18:12702236-12703880	H1-hESC	embryonic stem cell:	n/a	n/a
11	TCF7L2	chr18:12702416-12703300	HCT-116	colon:	n/a	n/a
12	POU2F2	chr18:12702492-12702808	GM12878	blood:	n/a	n/a
13	CTCF	chr18:12702560-12702710	GM12871	blood:	n/a	chr18:12702602-12702615
14	POLR2A	chr18:12702161-12703376	MCF-7	breast:	n/a	n/a
15	SIN3AK20	chr18:12702432-12703402	PANC-1	pancreas:	n/a	n/a
16	MXI1	chr18:12702467-12703442	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr18:12702465-12702819	A549	lung:	n/a	n/a
18	TBL1XR1	chr18:12702230-12703182	K562	blood:	n/a	n/a
19	NRF1	chr18:12702606-12702786	K562	blood:	n/a	n/a
20	TAF1	chr18:12702109-12703354	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr18:12702229-12703456	GM18951	blood:	n/a	n/a
22	POLR2A	chr18:12702154-12702847	GM12892	blood:	n/a	n/a
23	EBF1	chr18:12702146-12703361	GM12878	blood:	n/a	n/a
24	MAX	chr18:12702202-12703380	GM12878	blood:	n/a	chr18:12702699-12702709
25	GATA3	chr18:12702487-12703274	A549	lung:	n/a	chr18:12702863-12702872
26	POLR2A	chr18:12702263-12703831	MCF10A-Er-Src	breast:	n/a	n/a
27	TAF1	chr18:12702016-12703383	H1-hESC	embryonic stem cell:	n/a	n/a
28	MYBL2	chr18:12702207-12703103	HepG2	liver:	n/a	n/a
29	POLR2A	chr18:12702422-12703365	K562	blood:	n/a	n/a
30	YY1	chr18:12702538-12703285	SK-N-SH_RA	brain:	n/a	chr18:12702598-12702609
31	CTCF	chr18:12702638-12702861	K562	blood:	n/a	n/a
32	POLR2A	chr18:12702247-12703314	Hela-S3	cervix:	n/a	n/a
33	ELF1	chr18:12702443-12703464	HCT-116	colon:	n/a	chr18:12702831-12702843
34	TAF1	chr18:12702421-12702805	GM12892	blood:	n/a	n/a
35	ELF1	chr18:12702496-12703305	SK-N-SH	brain:	n/a	chr18:12702831-12702843
36	FOXA2	chr18:12702481-12703057	A549	lung:	n/a	n/a
37	FOXA2	chr18:12702588-12702887	HepG2	liver:	n/a	n/a
38	TAF1	chr18:12702302-12703237	HepG2	liver:	n/a	n/a
39	POLR2A	chr18:12701948-12703561	H1-hESC	embryonic stem cell:	n/a	n/a
40	YY1	chr18:12702560-12703173	HCT-116	colon:	n/a	chr18:12702598-12702609
41	BHLHE40	chr18:12702574-12703276	K562	blood:	n/a	n/a
42	MYC	chr18:12702149-12703681	K562	blood:	n/a	chr18:12702699-12702709
43	BHLHE40	chr18:12702196-12703448	GM12878	blood:	n/a	n/a
44	TCF7L2	chr18:12702434-12703258	PANC-1	pancreas:	n/a	n/a
45	EP300	chr18:12702527-12703118	GM12878	blood:	n/a	chr18:12702833-12702842
46	REST	chr18:12702480-12702764	A549	lung:	n/a	chr18:12702702-12702712 chr18:12702672-12702682
47	HA-E2F1	chr18:12702069-12703429	MCF-7	breast:	n/a	chr18:12703001-12703013 chr18:12703236-12703243
48	ZBTB33	chr18:12702402-12703278	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr18:12702207-12703349	SK-N-SH	brain:	n/a	n/a
50	TEAD4	chr18:12702333-12703166	ECC-1	luminal epithelium:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12702659-12702709	HAEpiC	amniotic membrane:	n/a
2	chr18:12702659-12702709	RPTEC	kidney:	n/a
3	chr18:12702659-12702709	GM12892	blood:	n/a
4	chr18:12702659-12702709	T-47D	breast:	n/a
5	chr18:12702659-12702709	HCM	heart:	n/a
6	chr18:12702659-12702709	NHBE	bronchial:	n/a
7	chr18:12702659-12702709	CMK	blood:	n/a
8	chr18:12702659-12702709	GM19239	blood:	n/a
9	chr18:12702659-12702709	HCF	heart:	n/a
10	chr18:12702659-12702709	NHDF-neo	bronchial:	n/a
11	chr18:12702659-12702709	BJ	skin:	n/a
12	chr18:12702659-12702709	PANC-1	pancreas:	n/a
13	chr18:12702659-12702709	HEEpiC	esophagus:	n/a
14	chr18:12702659-12702709	SK-N-SH_RA	brain:	n/a
15	chr18:12702659-12702709	HEK293	kidney:	embryo
16	chr18:12702659-12702709	SAEC	small airway:	n/a
17	chr18:12702659-12702709	ECC-1	luminal epithelium:	n/a
18	chr18:12702659-12702709	NH-A	brain:	n/a
19	chr18:12702659-12702709	H1-hESC	embryonic stem cell:	embryo
20	chr18:12702659-12702709	MCF10A-Er-Src	breast:	n/a
21	chr18:12702659-12702709	Hepatocyte	liver:	n/a
22	chr18:12702659-12702709	IMR90	lung:	fetal
23	chr18:12702659-12702709	HNPCEpiC	eye:	n/a
24	chr18:12702659-12702709	AG04450	lung:	fetal
25	chr18:12702659-12702709	HRE	kidney:	n/a
26	chr18:12702659-12702709	HMEC	breast:	n/a
27	chr18:12702659-12702709	Hela-S3	cervix:	n/a
28	chr18:12702659-12702709	ProgFib	skin:	n/a
29	chr18:12702659-12702709	U87	brain:	n/a
30	chr18:12702659-12702709	NT2-D1	testis:	n/a
31	chr18:12702659-12702709	LNCaP	prostate:	n/a
32	chr18:12702659-12702709	AoSMC	blood vessel:	n/a
33	chr18:12702659-12702709	AG09319	gingival:	n/a
34	chr18:12702659-12702709	GM12878	blood:	n/a
35	chr18:12702659-12702709	HUVEC	blood vessel:	n/a
36	chr18:12702659-12702709	BE2_C	brain:	n/a
37	chr18:12702659-12702709	Jurkat	blood:	n/a
38	chr18:12702659-12702709	AG09309	skin:	n/a
39	chr18:12702659-12702709	A549	lung:	n/a
40	chr18:12702659-12702709	HCPEpiC	choroid plexus:	n/a
41	chr18:12702659-12702709	AG10803	skin:	n/a
42	chr18:12702659-12702709	K562	blood:	n/a
43	chr18:12702659-12702709	MCF-7	breast:	n/a
44	chr18:12702659-12702709	NB4	blood:	n/a
45	chr18:12702659-12702709	HL-60	blood:	n/a
46	chr18:12702659-12702709	GM12891	blood:	n/a
47	chr18:12702659-12702709	HepG2	liver:	n/a
48	chr18:12702659-12702709	SK-N-MC	brain:	n/a
49	chr18:12702659-12702709	HRCEpiC	kidney:	n/a
50	chr18:12702659-12702709	HRPEpiC	eye:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12677577..12680065-chr18:12699898..12703044,3	K562	blood:
2	chr18:12375309..12380137-chr18:12701387..12704274,11	K562	blood:
3	chr18:12701407..12705081-chr18:12945993..12949483,5	MCF-7	breast:
4	chr18:12696763..12699239-chr18:12701108..12704411,4	MCF-7	breast:
5	chr11:18548103..18548963-chr18:12702273..12702811,2	Hela-S3	cervix:
6	chr18:12701267..12703413-chr18:12991110..12994892,3	K562	blood:
7	chr18:12700812..12705381-chr18:12946243..12950219,9	K562	blood:
8	chr18:12701527..12703834-chr18:12990213..12992610,2	K562	blood:
9	chr15:69745052..69745587-chr18:12702644..12703147,2	HCT-116	colon:
10	chr18:12689483..12696263-chr18:12698961..12704404,9	MCF-7	breast:
11	chr18:12701153..12703264-chr18:13056468..13058902,2	K562	blood:
12	chr18:12375314..12379217-chr18:12700733..12704866,11	K562	blood:
13	chr18:12700182..12704223-chr18:12944670..12949511,9	K562	blood:
14	chr18:12701070..12703137-chr18:12990557..12992522,2	MCF-7	breast:
15	chr18:12307184..12308743-chr18:12701040..12703824,2	K562	blood:
16	chr18:12702186..12702986-chr19:12791930..12792561,2	Hela-S3	cervix:
17	chr18:12702487..12704134-chr18:12881395..12884232,2	MCF-7	breast:
18	chr18:12376063..12377849-chr18:12702588..12704602,2	MCF-7	breast:
19	chr12:120729381..120730900-chr18:12702467..12704438,2	MCF-7	breast:
20	chr18:12306506..12308836-chr18:12701681..12703824,3	K562	blood:
21	chr18:12657668..12659639-chr18:12701302..12703566,3	MCF-7	breast:
22	chr18:12702602..12703576-chr2:219134371..219135034,2	Hela-S3	cervix:
23	chr18:12656018..12659900-chr18:12701056..12705601,5	K562	blood:

No data

Variant related genes	Relation type
PSMG2	TF binding region
CEP76	TF binding region
CEP76	CpG island
PSMG2	CpG island
ENSG00000085415	Chromatin interaction
ENSG00000127837	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000137818	Chromatin interaction
ENSG00000134278	Chromatin interaction
ENSG00000101624	Chromatin interaction
ENSG00000176014	Chromatin interaction
ENSG00000101639	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000175354	Chromatin interaction
ENSG00000095059	Chromatin interaction
ENSG00000266969	Chromatin interaction
ENSG00000215527	Chromatin interaction
ENSG00000074319	Chromatin interaction
ENSG00000141385	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1062235	0.92[ASN][1000 genomes]
rs1129214	0.92[ASN][1000 genomes]
rs12373207	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12373259	0.91[ASN][1000 genomes]
rs12454322	0.83[EUR][1000 genomes]
rs12455268	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12455295	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12457771	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12458097	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12458895	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12954079	0.92[ASN][1000 genomes]
rs12957555	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12957603	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12957810	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12960623	0.98[ASN][1000 genomes]
rs12960997	0.92[ASN][1000 genomes]
rs12962598	0.92[ASN][1000 genomes]
rs12963505	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12964507	0.91[ASN][1000 genomes]
rs12965733	0.87[ASN][1000 genomes]
rs12965990	0.92[ASN][1000 genomes]
rs12966246	0.86[ASN][1000 genomes]
rs12966367	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12966424	0.92[ASN][1000 genomes]
rs12968771	0.98[ASN][1000 genomes]
rs12969300	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12969446	0.92[ASN][1000 genomes]
rs12969938	0.92[ASN][1000 genomes]
rs12971256	0.87[ASN][1000 genomes]
rs1362709	0.90[ASN][1000 genomes]
rs1549011	0.92[ASN][1000 genomes]
rs1592642	0.87[ASN][1000 genomes]
rs1592643	0.87[ASN][1000 genomes]
rs17616402	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1971702	0.86[ASN][1000 genomes]
rs2011575	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2011579	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2051262	0.91[ASN][1000 genomes]
rs2302768	0.91[ASN][1000 genomes]
rs28820339	0.87[ASN][1000 genomes]
rs28832066	0.92[ASN][1000 genomes]
rs34040888	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34120824	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34277169	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34472716	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34537593	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34632667	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34690304	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34847769	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35322088	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35506854	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35634465	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35898717	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3809919	0.91[ASN][1000 genomes]
rs3902981	0.85[ASN][1000 genomes]
rs4296322	0.88[ASN][1000 genomes]
rs45589535	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs45596833	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4633785	0.92[ASN][1000 genomes]
rs55870255	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62095975	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62096023	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62096046	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62096048	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6505760	0.87[ASN][1000 genomes]
rs66808227	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7233175	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7233694	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7507018	0.92[ASN][1000 genomes]
rs8083182	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8083217	0.82[ASN][1000 genomes]
rs8086099	0.87[ASN][1000 genomes]
rs8086265	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8086846	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8097134	0.87[ASN][1000 genomes]
rs9303774	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9303775	0.92[ASN][1000 genomes]
rs9303776	0.90[ASN][1000 genomes]
rs933600	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs948319	0.91[ASN][1000 genomes]
rs963920	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9945140	0.92[ASN][1000 genomes]
rs9945644	0.92[ASN][1000 genomes]
rs9945801	0.92[ASN][1000 genomes]
rs9948844	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9949293	0.92[ASN][1000 genomes]
rs9950365	0.92[ASN][1000 genomes]
rs9951576	0.92[ASN][1000 genomes]
rs9952000	0.92[ASN][1000 genomes]
rs9954112	0.92[ASN][1000 genomes]
rs9955985	0.92[ASN][1000 genomes]
rs9957880	0.91[ASN][1000 genomes]
rs9958100	0.90[ASN][1000 genomes]
rs9958412	0.92[ASN][1000 genomes]
rs9959039	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9959458	0.92[ASN][1000 genomes]
rs9959536	0.91[ASN][1000 genomes]
rs9960555	0.91[ASN][1000 genomes]
rs9961799	0.87[ASN][1000 genomes]
rs9962006	0.92[ASN][1000 genomes]
rs9963809	0.87[ASN][1000 genomes]
rs9964868	0.96[ASN][1000 genomes]
rs9966464	0.90[ASN][1000 genomes]
rs9966490	0.91[ASN][1000 genomes]
rs9966672	0.91[ASN][1000 genomes]
rs9967437	0.92[ASN][1000 genomes]
rs9967553	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv1820040	chr18:12635601-12725236	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	esv1817845	chr18:12635601-12733705	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
8	esv1821625	chr18:12635601-12733705	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
10	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
11	nsv1064273	chr18:12697601-12828251	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs35699948	TNFSF5IP1	Cis_1M	lymphoblastoid	RTeQTL
rs35699948	SPIRE1	cis	Muscle Skeletal	GTEx
rs35699948	RP11-861E21.2	cis	Muscle Skeletal	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12701000-12703800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr18:12701200-12704000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr18:12701200-12704000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr18:12701200-12704000	Active TSS	NHDF-Ad	bronchial
5	chr18:12701200-12704400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr18:12701400-12703800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:12701400-12703800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr18:12701400-12703800	Active TSS	Colonic Mucosa	Colon
9	chr18:12701400-12703800	Active TSS	Fetal Intestine Large	intestine
10	chr18:12701400-12703800	Active TSS	NH-A	brain
11	chr18:12701400-12704000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr18:12701400-12704000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr18:12701600-12703600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr18:12701600-12703600	Active TSS	Right Ventricle	heart
15	chr18:12701600-12703800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr18:12701600-12703800	Active TSS	H1 Cell Line	embryonic stem cell
17	chr18:12701600-12703800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:12701600-12703800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr18:12701600-12703800	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr18:12701600-12703800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr18:12701600-12703800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr18:12701600-12703800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr18:12701600-12704000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr18:12701600-12704000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr18:12701600-12704000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr18:12701600-12704000	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr18:12701600-12704000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr18:12701600-12704000	Active TSS	Fetal Kidney	kidney
29	chr18:12701600-12704000	Active TSS	A549	lung
30	chr18:12701600-12704000	Active TSS	HSMMtube	muscle
31	chr18:12701600-12704200	Active TSS	Aorta	Aorta
32	chr18:12701600-12704200	Active TSS	Esophagus	oesophagus
33	chr18:12701800-12703400	Active TSS	Primary T cells from cord blood	blood
34	chr18:12701800-12703600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr18:12701800-12703600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr18:12701800-12703600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr18:12701800-12703600	Active TSS	Brain Anterior Caudate	brain
38	chr18:12701800-12703600	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr18:12701800-12703600	Active TSS	Duodenum Mucosa	Duodenum
40	chr18:12701800-12703600	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr18:12701800-12703600	Active TSS	Fetal Brain Female	brain
42	chr18:12701800-12703600	Active TSS	Dnd41	blood
43	chr18:12701800-12703600	Active TSS	Osteobl	bone
44	chr18:12701800-12703800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr18:12701800-12703800	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr18:12701800-12703800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr18:12701800-12703800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr18:12701800-12703800	Active TSS	Muscle Satellite Cultured Cells	--
49	chr18:12701800-12703800	Active TSS	Brain Cingulate Gyrus	brain
50	chr18:12701800-12703800	Active TSS	Gastric	stomach

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