Variant report

Variant	rs11157423
Chromosome Location	chr14:45430189-45430190
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:45430107-45432327	IMR90	lung:	n/a	n/a
2	ZNF384	chr14:45430079-45430273	GM12878	blood:	n/a	n/a
3	MXI1	chr14:45429946-45432635	IMR90	lung:	n/a	chr14:45431389-45431398
4	SIN3AK20	chr14:45430157-45433877	MCF-7	breast:	n/a	n/a
5	MXI1	chr14:45429888-45432391	SK-N-SH	brain:	n/a	chr14:45431389-45431398
6	CEBPB	chr14:45429950-45431742	Hela-S3	cervix:	n/a	n/a
7	MAZ	chr14:45430062-45432314	IMR90	lung:	n/a	chr14:45431390-45431399 chr14:45431390-45431399 chr14:45431388-45431401 chr14:45431389-45431400 chr14:45431390-45431399
8	FOS	chr14:45429863-45430201	MCF10A-Er-Src	breast:	n/a	chr14:45430040-45430049
9	SREBP1	chr14:45429375-45431851	GM12878	blood:	n/a	chr14:45431390-45431399
10	CHD1	chr14:45429584-45432217	GM12878	blood:	n/a	n/a
11	REST	chr14:45430171-45432207	H1-neurons	neurons:	n/a	chr14:45431089-45431098 chr14:45430498-45430511
12	POLR2A	chr14:45430029-45432661	GM12891	blood:	n/a	n/a
13	PRDM1	chr14:45430075-45430425	Hela-S3	cervix:	n/a	n/a
14	FOS	chr14:45429966-45430229	MCF10A-Er-Src	breast:	n/a	chr14:45430040-45430049
15	STAT3	chr14:45430088-45430263	MCF10A-Er-Src	breast:	n/a	n/a
16	HCFC1	chr14:45429846-45432550	Hela-S3	cervix:	n/a	n/a
17	CHD1	chr14:45428882-45433567	IMR90	lung:	n/a	n/a
18	GABPA	chr14:45430139-45432372	MCF-7	breast:	n/a	n/a
19	TBP	chr14:45430116-45431548	Hela-S3	cervix:	n/a	n/a
20	SMARCC1	chr14:45430003-45432485	Hela-S3	cervix:	n/a	n/a
21	FOS	chr14:45429857-45430222	MCF10A-Er-Src	breast:	n/a	chr14:45430040-45430049

No.	Distal block	Cell Line	Cell type
1	chr14:45429603..45434764-chr14:45555039..45559274,5	MCF-7	breast:
2	chr14:45429725..45432587-chr14:45720437..45723992,3	MCF-7	breast:
3	chr14:45429271..45433674-chr14:45463003..45467131,6	MCF-7	breast:
4	chr14:45429808..45433002-chr14:45552349..45555813,4	MCF-7	breast:
5	chr14:45428391..45434782-chr14:45601313..45606393,12	MCF-7	breast:
6	chr14:45380945..45382495-chr14:45429574..45431197,2	MCF-7	breast:
7	chr14:45428670..45431549-chr17:62221923..62224192,2	MCF-7	breast:
8	chr14:45429455..45434456-chr14:45457577..45465953,9	MCF-7	breast:
9	chr14:45429027..45431300-chr14:45604077..45605830,2	K562	blood:
10	chr14:45428929..45435608-chr14:45601966..45608462,12	MCF-7	breast:

Variant related genes	Relation type
FAM179B	TF binding region
ENSG00000266402	Chromatin interaction
ENSG00000249163	Chromatin interaction
ENSG00000129534	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000187790	Chromatin interaction
ENSG00000212615	Chromatin interaction
ENSG00000198718	Chromatin interaction
ENSG00000185246	Chromatin interaction
ENSG00000100442	Chromatin interaction
ENSG00000258949	Chromatin interaction

Extended variants
information (count: 180 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:171)

rs_ID	r²[population]
rs10083439	0.87[EUR][1000 genomes]
rs10129173	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10130377	0.87[YRI][hapmap]
rs10131066	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10131615	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10132389	1.00[CEU][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10132547	0.82[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10132949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10134071	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10134598	0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10135085	0.89[JPT][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes]
rs10135890	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10136008	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10136855	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10136926	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10138272	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10138997	0.86[YRI][hapmap]
rs10139998	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10140013	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10140049	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10140108	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10140222	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10140318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10141474	0.86[YRI][hapmap]
rs10143806	0.82[YRI][hapmap]
rs10145092	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10145267	1.00[CEU][hapmap];0.90[JPT][hapmap];0.97[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10146395	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10147499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10149484	1.00[CEU][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10150646	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs10152101	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1053667	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs11157424	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];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11844832	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs11845088	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11845904	0.82[CEU][hapmap];0.88[CHB][hapmap];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11845956	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11846656	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11847039	0.87[EUR][1000 genomes]
rs11847336	0.89[JPT][hapmap]
rs11848334	0.82[CEU][hapmap];0.98[EUR][1000 genomes]
rs11848799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11849208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11849583	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11850363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11851218	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs11851357	0.87[EUR][1000 genomes]
rs11851516	0.87[EUR][1000 genomes]
rs11851962	0.82[CEU][hapmap];0.98[EUR][1000 genomes]
rs11852210	0.82[CEU][hapmap];0.98[EUR][1000 genomes]
rs12100842	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1593279	0.87[EUR][1000 genomes]
rs17115639	0.87[EUR][1000 genomes]
rs17115646	0.87[EUR][1000 genomes]
rs17115648	0.87[EUR][1000 genomes]
rs17115652	0.87[EUR][1000 genomes]
rs17115677	0.87[EUR][1000 genomes]
rs17115688	0.98[EUR][1000 genomes]
rs17115703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17115718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17115787	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17115809	0.89[JPT][hapmap];0.86[YRI][hapmap]
rs17115811	0.89[JPT][hapmap];0.86[YRI][hapmap]
rs2016738	0.89[JPT][hapmap]
rs2033385	0.80[YRI][hapmap]
rs2295157	0.87[EUR][1000 genomes]
rs28432035	0.87[EUR][1000 genomes]
rs28448551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28517769	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28558522	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28572336	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28594810	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28622413	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28637857	0.89[JPT][hapmap];0.80[YRI][hapmap]
rs28681969	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28695721	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28703636	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28756151	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2899960	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3736747	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs3783702	0.87[YRI][hapmap]
rs3825625	0.86[YRI][hapmap]
rs3825627	0.89[JPT][hapmap]
rs3825629	1.00[CEU][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4141578	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs56386358	0.84[EUR][1000 genomes]
rs56706956	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56836063	0.86[EUR][1000 genomes]
rs57129780	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57147026	0.82[EUR][1000 genomes]
rs57614513	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57694277	0.94[EUR][1000 genomes]
rs58013518	0.98[EUR][1000 genomes]
rs58338525	0.87[EUR][1000 genomes]
rs58920861	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59992752	0.87[EUR][1000 genomes]
rs60521816	0.87[EUR][1000 genomes]
rs60595870	0.85[EUR][1000 genomes]
rs60891427	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61707578	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6572290	0.82[CEU][hapmap];0.98[EUR][1000 genomes]
rs66488071	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66535982	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66662385	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67643245	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7140739	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs7145831	0.82[CEU][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7145870	1.00[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7146566	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7147644	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7147811	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7151557	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7153451	0.81[EUR][1000 genomes]
rs7158846	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72621070	0.92[ASN][1000 genomes]
rs73334104	0.98[EUR][1000 genomes]
rs73334112	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73334114	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73334131	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73334135	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73334148	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73334154	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73334157	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73334162	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73334165	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73334172	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73334176	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73334913	0.94[EUR][1000 genomes]
rs73346336	0.96[EUR][1000 genomes]
rs73346344	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73346351	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73346360	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73348060	0.91[ASN][1000 genomes]
rs73348062	0.88[ASN][1000 genomes]
rs73348065	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73348069	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73348075	0.92[ASN][1000 genomes]
rs73348076	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73348079	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73348088	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73348095	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73348285	0.92[ASN][1000 genomes]
rs73348939	0.87[EUR][1000 genomes]
rs73348947	0.87[EUR][1000 genomes]
rs73348950	0.87[EUR][1000 genomes]
rs73348953	0.87[EUR][1000 genomes]
rs73348959	0.87[EUR][1000 genomes]
rs73348966	0.94[EUR][1000 genomes]
rs73348975	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73348977	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73348981	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73348987	0.98[EUR][1000 genomes]
rs73349820	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73350007	0.86[ASN][1000 genomes]
rs73350201	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73352233	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73352238	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73352246	0.92[ASN][1000 genomes]
rs73353644	0.87[EUR][1000 genomes]
rs73353657	0.87[EUR][1000 genomes]
rs7493246	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7493823	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8006685	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8009193	0.86[YRI][hapmap]
rs8015453	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8017844	0.89[YRI][hapmap]
rs8018380	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8022008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8022608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9323106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic 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 target site	66 gene(s)	inside rSNPs	diseases
5	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv1042585	chr14:45401506-45497907	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv1045869	chr14:45415597-45487903	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv1259	chr14:45419323-45444660	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11157423	RP11-398E10.1	cis	Nerve Tibial	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45408600-45430400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:45415000-45430400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:45415200-45430200	Weak transcription	Lung	lung
4	chr14:45426400-45430200	Weak transcription	Pancreas	Pancrea
5	chr14:45426400-45430400	Weak transcription	Spleen	Spleen
6	chr14:45428400-45430400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:45428400-45436600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:45428600-45430400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr14:45428600-45432400	Active TSS	Muscle Satellite Cultured Cells	--
10	chr14:45428600-45433200	Active TSS	K562	blood
11	chr14:45428800-45430200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:45428800-45430400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr14:45428800-45433000	Active TSS	HMEC	breast
14	chr14:45428800-45443400	Active TSS	GM12878-XiMat	blood
15	chr14:45429000-45430200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:45429000-45430400	Flanking Active TSS	Osteobl	bone
17	chr14:45429000-45431400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:45429000-45432400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:45429000-45433000	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr14:45429000-45435000	Active TSS	NHLF	lung
21	chr14:45429000-45435200	Active TSS	Fetal Intestine Large	intestine
22	chr14:45429200-45430200	Enhancers	Primary B cells from peripheral blood	blood
23	chr14:45429200-45430200	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr14:45429200-45430200	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr14:45429200-45430200	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr14:45429200-45430200	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr14:45429200-45430400	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr14:45429200-45430400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:45429200-45430400	Flanking Active TSS	HUVEC	blood vessel
30	chr14:45429200-45430400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr14:45429200-45430600	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr14:45429200-45432600	Active TSS	Psoas Muscle	Psoas
33	chr14:45429200-45432800	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr14:45429200-45432800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr14:45429200-45435000	Active TSS	NHDF-Ad	bronchial
36	chr14:45429200-45435200	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr14:45429200-45435200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:45429200-45435400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:45429200-45436800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr14:45429400-45430200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr14:45429400-45430200	Active TSS	Fetal Thymus	thymus
42	chr14:45429400-45430400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr14:45429400-45430400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr14:45429400-45430600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr14:45429400-45431800	Active TSS	Primary T cells fromperipheralblood	blood
46	chr14:45429400-45432200	Active TSS	Fetal Muscle Leg	muscle
47	chr14:45429400-45432600	Active TSS	H1 Cell Line	embryonic stem cell
48	chr14:45429400-45432600	Active TSS	Fetal Intestine Small	intestine
49	chr14:45429400-45432800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:45429400-45432800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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