Variant report

Variant	rs3214051
Chromosome Location	chr12:57119236-57119237
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:553)
CpG islands
(count:61)
Chromatin interactive
region (count:42)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:553 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:57118375-57119550	HEK293	kidney:	n/a	n/a
2	RCOR1	chr12:57118517-57119548	GM12878	blood:	n/a	n/a
3	HMGN3	chr12:57118645-57119477	K562	blood:	n/a	n/a
4	SMARCC1	chr12:57118201-57119501	Hela-S3	cervix:	n/a	n/a
5	EP300	chr12:57118519-57119600	A549	lung:	n/a	chr12:57118782-57118795
6	NFIC	chr12:57118704-57119567	GM12878	blood:	n/a	n/a
7	GABPA	chr12:57118795-57119432	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr12:57117479-57119648	MCF10A-Er-Src	breast:	n/a	n/a
9	GABPA	chr12:57118586-57119475	K562	blood:	n/a	n/a
10	BCL3	chr12:57118509-57120073	A549	lung:	n/a	chr12:57119127-57119136
11	ZBTB33	chr12:57118759-57119667	SK-N-SH	brain:	n/a	chr12:57119273-57119282
12	MYC	chr12:57118514-57119481	K562	blood:	n/a	n/a
13	TAF1	chr12:57118721-57119358	HepG2	liver:	n/a	n/a
14	ZBTB33	chr12:57118963-57119562	GM12878	blood:	n/a	chr12:57119273-57119282
15	MAX	chr12:57118717-57119668	A549	lung:	n/a	n/a
16	UBTF	chr12:57118607-57119483	K562	blood:	n/a	n/a
17	NRF1	chr12:57118920-57119430	H1-hESC	embryonic stem cell:	n/a	n/a
18	TAF1	chr12:57118330-57119526	H1-neurons	neurons:	n/a	n/a
19	EBF1	chr12:57118919-57119451	GM12878	blood:	n/a	n/a
20	EGR1	chr12:57118329-57119677	HCT-116	colon:	n/a	chr12:57119130-57119143 chr12:57119219-57119228 chr12:57119131-57119145
21	SIN3AK20	chr12:57118397-57119553	PANC-1	pancreas:	n/a	n/a
22	RAD21	chr12:57118686-57119502	IMR90	lung:	n/a	chr12:57119003-57119015 chr12:57119323-57119335
23	POLR2A	chr12:57118689-57119489	A549	lung:	n/a	n/a
24	MYC	chr12:57118780-57119364	HepG2	liver:	n/a	n/a
25	POU2F2	chr12:57118851-57119470	GM12878	blood:	n/a	chr12:57119127-57119139
26	SIX5	chr12:57118055-57120045	A549	lung:	n/a	n/a
27	YY1	chr12:57118573-57119284	K562	blood:	n/a	chr12:57119055-57119077 chr12:57119066-57119074 chr12:57119059-57119079 chr12:57119068-57119076 chr12:57119060-57119079 chr12:57119067-57119077
28	SP2	chr12:57118837-57119387	HepG2	liver:	n/a	chr12:57119130-57119145
29	BRCA1	chr12:57118979-57119465	HepG2	liver:	n/a	n/a
30	EGR1	chr12:57118955-57119345	GM12878	blood:	n/a	chr12:57119130-57119143 chr12:57119219-57119228 chr12:57119131-57119145
31	RFX5	chr12:57118818-57119354	H1-hESC	embryonic stem cell:	n/a	n/a
32	MYC	chr12:57118679-57119486	MCF10A-Er-Src	breast:	n/a	n/a
33	MXI1	chr12:57117477-57119619	IMR90	lung:	n/a	n/a
34	MYC	chr12:57118777-57119313	MCF-7	breast:	n/a	n/a
35	USF1	chr12:57118722-57119494	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr12:57118817-57119546	GM10847	blood:	n/a	n/a
37	TCF12	chr12:57117815-57119680	A549	lung:	n/a	n/a
38	TAF1	chr12:57118695-57119505	GM12892	blood:	n/a	n/a
39	POLR2A	chr12:57118316-57119835	GM12878	blood:	n/a	n/a
40	POLR2A	chr12:57118210-57119640	SK-N-MC	brain:	n/a	n/a
41	POLR2A	chr12:57117432-57119689	H1-hESC	embryonic stem cell:	n/a	n/a
42	BRCA1	chr12:57119190-57119548	GM12878	blood:	n/a	n/a
43	POLR2A	chr12:57118424-57119676	GM12892	blood:	n/a	n/a
44	MAX	chr12:57118575-57119447	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr12:57118929-57119265	HepG2	liver:	n/a	n/a
46	YY1	chr12:57118438-57119465	A549	lung:	n/a	chr12:57119055-57119077 chr12:57119066-57119074 chr12:57119059-57119079 chr12:57119068-57119076 chr12:57119060-57119079 chr12:57119067-57119077
47	E2F6	chr12:57118681-57119610	A549	lung:	n/a	n/a
48	MAX	chr12:57118423-57119580	K562	blood:	n/a	n/a
49	MAX	chr12:57118394-57119562	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr12:57118603-57119645	HUVEC	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:57119209-57119259	NT2-D1	testis:	n/a
2	chr12:57119209-57119259	HPAEpiC	pulmonary alveolar:	n/a
3	chr12:57119209-57119259	Jurkat	blood:	n/a
4	chr12:57119209-57119259	U87	brain:	n/a
5	chr12:57119209-57119259	PANC-1	pancreas:	n/a
6	chr12:57119209-57119259	HepG2	liver:	n/a
7	chr12:57119209-57119259	HRE	kidney:	n/a
8	chr12:57119209-57119259	AG10803	skin:	n/a
9	chr12:57119209-57119259	SK-N-MC	brain:	n/a
10	chr12:57119209-57119259	HCF	heart:	n/a
11	chr12:57119209-57119259	BJ	skin:	n/a
12	chr12:57119209-57119259	PrEC	prostate:	n/a
13	chr12:57119209-57119259	GM12891	blood:	n/a
14	chr12:57119209-57119259	Hepatocyte	liver:	n/a
15	chr12:57119209-57119259	GM06990	blood:	n/a
16	chr12:57119209-57119259	Hela-S3	cervix:	n/a
17	chr12:57119209-57119259	GM12878	blood:	n/a
18	chr12:57119209-57119259	HL-60	blood:	n/a
19	chr12:57119209-57119259	T-47D	breast:	n/a
20	chr12:57119209-57119259	PFSK-1	brain:	n/a
21	chr12:57119209-57119259	HCT-116	colon:	n/a
22	chr12:57119209-57119259	AG04449	skin:	fetal
23	chr12:57119209-57119259	H1-hESC	embryonic stem cell:	embryo
24	chr12:57119209-57119259	HCPEpiC	choroid plexus:	n/a
25	chr12:57119209-57119259	ECC-1	luminal epithelium:	n/a
26	chr12:57119209-57119259	SAEC	small airway:	n/a
27	chr12:57119209-57119259	BE2_C	brain:	n/a
28	chr12:57119209-57119259	HEK293	kidney:	embryo
29	chr12:57119209-57119259	HNPCEpiC	eye:	n/a
30	chr12:57119209-57119259	K562	blood:	n/a
31	chr12:57119209-57119259	SK-N-SH_RA	brain:	n/a
32	chr12:57119209-57119259	AoSMC	blood vessel:	n/a
33	chr12:57119209-57119259	HEEpiC	esophagus:	n/a
34	chr12:57119209-57119259	SKMC	muscle:	n/a
35	chr12:57119209-57119259	RPTEC	kidney:	n/a
36	chr12:57119209-57119259	MCF-7	breast:	n/a
37	chr12:57119209-57119259	NB4	blood:	n/a
38	chr12:57119209-57119259	NHBE	bronchial:	n/a
39	chr12:57119209-57119259	HAEpiC	amniotic membrane:	n/a
40	chr12:57119209-57119259	ovcar-3	ovarian:	n/a
41	chr12:57119209-57119259	A549	lung:	n/a
42	chr12:57119209-57119259	HCM	heart:	n/a
43	chr12:57119209-57119259	HRPEpiC	eye:	n/a
44	chr12:57119209-57119259	NHDF-neo	bronchial:	n/a
45	chr12:57119209-57119259	AG09319	gingival:	n/a
46	chr12:57119209-57119259	SK-N-SH	brain:	n/a
47	chr12:57119209-57119259	IMR90	lung:	fetal
48	chr12:57119209-57119259	HUVEC	blood vessel:	n/a
49	chr12:57119209-57119259	NH-A	brain:	n/a
50	chr12:57119209-57119259	HMEC	breast:	n/a

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57117942..57120205-chr12:57136575..57138739,2	K562	blood:
2	chr12:57062442..57065123-chr12:57118386..57120194,2	K562	blood:
3	chr12:57075341..57085478-chr12:57112447..57121011,58	MCF-7	breast:
4	chr12:57116864..57121762-chr12:57140480..57149366,20	K562	blood:
5	chr12:57117154..57122230-chr12:57122473..57127950,8	K562	blood:
6	chr11:61582744..61583429-chr12:57118696..57119298,2	Hela-S3	cervix:
7	chr12:57118215..57120672-chr12:57479913..57482298,4	K562	blood:
8	chr12:57117403..57120848-chr12:57123897..57127833,5	MCF-7	breast:
9	chr12:57118003..57119898-chr12:57480309..57484526,4	K562	blood:
10	chr1:149859408..149860169-chr12:57118637..57119249,2	Hela-S3	cervix:
11	chr12:57117159..57119489-chr12:57914533..57916753,2	K562	blood:
12	chr12:57118803..57119375-chr17:41149931..41150742,2	NB4	blood:
13	chr12:57116631..57120456-chr12:57479265..57482503,6	MCF-7	breast:
14	chr12:57118800..57119549-chr15:59664948..59665732,2	Hela-S3	cervix:
15	chr12:57117928..57119916-chr12:57484796..57487169,2	K562	blood:
16	chr12:57026523..57033046-chr12:57115223..57120839,17	MCF-7	breast:
17	chr12:57022951..57026800-chr12:57117756..57120478,4	K562	blood:
18	chr12:57117875..57121156-chr12:57480482..57484573,7	MCF-7	breast:
19	chr12:57035906..57041425-chr12:57115344..57122353,14	K562	blood:
20	chr12:57119126..57119635-chr17:7475552..7476515,2	Hela-S3	cervix:
21	chr12:57118572..57119368-chr19:58873770..58874362,2	Hela-S3	cervix:
22	chr12:57116832..57120019-chr12:57136517..57139167,4	K562	blood:
23	chr12:57038025..57041646-chr12:57113711..57120620,12	MCF-7	breast:
24	chr12:57074578..57085543-chr12:57108746..57121559,55	K562	blood:
25	chr12:57117372..57120851-chr12:57140459..57146973,9	MCF-7	breast:
26	chr12:57036857..57041663-chr12:57115375..57121628,17	MCF-7	breast:
27	chr12:57081576..57082654-chr12:57118658..57119447,3	MCF-7	breast:
28	chr12:57117747..57120933-chr12:57504153..57507822,3	MCF-7	breast:
29	chr12:57029241..57032243-chr12:57118930..57120997,3	MCF-7	breast:
30	chr12:57036938..57041843-chr12:57115310..57120529,12	K562	blood:
31	chr12:57117044..57122605-chr12:57141917..57149366,15	K562	blood:
32	chr12:57076604..57085974-chr12:57112559..57120474,46	MCF-7	breast:
33	chr12:57029325..57031901-chr12:57117186..57120147,2	K562	blood:
34	chr12:57117536..57119496-chr12:57145407..57147566,3	MCF-7	breast:
35	chr12:56583529..56586106-chr12:57117314..57120068,2	MCF-7	breast:
36	chr12:57118762..57119531-chr8:117778258..117779135,2	Hela-S3	cervix:
37	chr12:57078475..57085183-chr12:57112918..57121559,38	K562	blood:
38	chr12:57022951..57032187-chr12:57113330..57121462,17	K562	blood:
39	chr12:57119056..57120711-chr12:57387160..57389452,2	MCF-7	breast:
40	chr10:120966508..120967388-chr12:57118658..57119300,2	Hela-S3	cervix:
41	chr12:57118473..57119279-chr15:41047161..41047984,2	Hela-S3	cervix:
42	chr12:57117761..57120217-chr12:57520609..57523242,3	K562	blood:

No data

Variant related genes	Relation type
NACA	TF binding region
NACA	CpG island
ENSG00000268230	Chromatin interaction
ENSG00000174586	Chromatin interaction
ENSG00000137824	Chromatin interaction
ENSG00000110958	Chromatin interaction
ENSG00000198056	Chromatin interaction
ENSG00000196531	Chromatin interaction
ENSG00000123384	Chromatin interaction
ENSG00000166886	Chromatin interaction
ENSG00000241217	Chromatin interaction
ENSG00000131469	Chromatin interaction
ENSG00000110955	Chromatin interaction
ENSG00000269054	Chromatin interaction
ENSG00000258199	Chromatin interaction
ENSG00000149485	Chromatin interaction
ENSG00000207031	Chromatin interaction
ENSG00000166856	Chromatin interaction
ENSG00000147679	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000157470	Chromatin interaction
ENSG00000157483	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000076108	Chromatin interaction
ENSG00000166888	Chromatin interaction
ENSG00000200127	Chromatin interaction
ENSG00000147677	Chromatin interaction
ENSG00000161960	Chromatin interaction
ENSG00000025423	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000198873	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1026565	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10459246	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10747769	0.82[EUR][1000 genomes]
rs10747770	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10783796	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876916	0.95[CEU][hapmap];0.93[CHB][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10876918	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1107479	0.94[ASW][hapmap];0.95[CEU][hapmap];0.93[CHB][hapmap];0.81[CHD][hapmap];0.84[GIH][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.89[TSI][hapmap];0.93[YRI][hapmap]
rs11171914	0.90[CEU][hapmap];0.92[CHB][hapmap]
rs11171951	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11171956	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11171986	0.81[JPT][hapmap]
rs1131514	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12227117	0.80[ASN][1000 genomes]
rs12229457	0.90[CEU][hapmap];0.93[CHB][hapmap]
rs12828563	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1466382	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.90[MEX][hapmap];0.99[MKK][hapmap];0.89[TSI][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]
rs1563896	0.85[CEU][hapmap];0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs1563897	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1975875	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1979325	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs2035081	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2035082	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2255074	0.95[CEU][hapmap];0.93[CHB][hapmap];0.81[CHD][hapmap];0.84[GIH][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap]
rs2290893	0.95[CEU][hapmap];0.93[CHB][hapmap];0.81[CHD][hapmap];0.88[GIH][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs2290894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2926741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2926743	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs2926747	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2926748	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2950387	0.80[CHB][hapmap];0.82[TSI][hapmap]
rs2950390	0.90[CEU][hapmap];0.93[CHB][hapmap];0.81[CHD][hapmap];0.84[TSI][hapmap]
rs2958123	0.95[CEU][hapmap];0.93[CHB][hapmap]
rs2958127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2958130	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2958132	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2958134	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2958148	1.00[CEU][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2958149	0.93[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2958153	0.93[CHB][hapmap];0.84[CHD][hapmap]
rs2958154	0.90[CEU][hapmap];0.93[CHB][hapmap];0.81[CHD][hapmap];0.84[TSI][hapmap]
rs2958155	1.00[ASW][hapmap];0.95[CEU][hapmap];0.93[CHB][hapmap];0.81[CHD][hapmap];0.88[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.96[YRI][hapmap]
rs4277148	0.81[JPT][hapmap]
rs4759254	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs4759256	0.87[ASN][1000 genomes]
rs4788	0.94[ASN][1000 genomes]
rs4902	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7137749	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7295862	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7313074	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs7966391	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7967600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7978685	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs7980317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7980835	0.82[EUR][1000 genomes]
rs898609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs898611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs941207	0.86[CHB][hapmap]
rs9634246	0.93[CHB][hapmap];0.81[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1794914	chr12:57119236-57195379	Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs3214051	HSD17B6	cis	cerebellum	SCAN
rs3214051	OR6C4	cis	cerebellum	SCAN
rs3214051	PRIM1	cis	cerebellum	SCAN
rs3214051	MUCL1	cis	parietal	SCAN
rs3214051	RAB5B	cis	cerebellum	SCAN
rs3214051	PRIM1	cis	parietal	SCAN
rs3214051	CELA1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57115800-57119800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:57116600-57120000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:57116800-57119600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:57116800-57119800	Active TSS	Ovary	ovary
5	chr12:57116800-57119800	Active TSS	Psoas Muscle	Psoas
6	chr12:57117000-57119600	Active TSS	Fetal Intestine Large	intestine
7	chr12:57117000-57119800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:57117000-57119800	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr12:57117000-57119800	Active TSS	Right Ventricle	heart
10	chr12:57117000-57119800	Active TSS	HSMMtube	muscle
11	chr12:57117000-57120000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:57117200-57119400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:57117200-57119400	Active TSS	HMEC	breast
14	chr12:57117200-57119800	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr12:57117200-57119800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr12:57117200-57120000	Active TSS	Aorta	Aorta
17	chr12:57117400-57119400	Active TSS	Muscle Satellite Cultured Cells	--
18	chr12:57117400-57119400	Active TSS	Fetal Thymus	thymus
19	chr12:57117400-57119600	Active TSS	H9 Cell Line	embryonic stem cell
20	chr12:57117400-57119600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:57117400-57119600	Active TSS	Fetal Intestine Small	intestine
22	chr12:57117400-57119800	Active TSS	Fetal Kidney	kidney
23	chr12:57117400-57120000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:57117600-57119400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:57117600-57119400	Active TSS	Esophagus	oesophagus
26	chr12:57117600-57119400	Active TSS	Placenta Amnion	Placenta Amnion
27	chr12:57117600-57119400	Active TSS	Stomach Mucosa	stomach
28	chr12:57117600-57119600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:57117600-57119600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:57117600-57119600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:57117600-57119600	Active TSS	Fetal Heart	heart
32	chr12:57117600-57119600	Active TSS	Lung	lung
33	chr12:57117600-57119600	Active TSS	Pancreas	Pancrea
34	chr12:57117600-57119600	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr12:57117600-57119600	Bivalent/Poised TSS	HepG2	liver
36	chr12:57117600-57119800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:57117600-57119800	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr12:57117600-57119800	Active TSS	Colonic Mucosa	Colon
39	chr12:57117600-57119800	Active TSS	Left Ventricle	heart
40	chr12:57117800-57119400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:57117800-57119400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:57117800-57119400	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr12:57117800-57119400	Active TSS	Small Intestine	intestine
44	chr12:57117800-57119600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:57117800-57119600	Active TSS	Hela-S3	cervix
46	chr12:57117800-57119600	Active TSS	NHLF	lung
47	chr12:57117800-57119800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr12:57117800-57119800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:57117800-57119800	Active TSS	Colon Smooth Muscle	Colon
50	chr12:57117800-57119800	Active TSS	NHDF-Ad	bronchial

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