Variant report

Variant	rs7520630
Chromosome Location	chr1:92958961-92958962
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92956534..92958964-chr1:92961185..92963845,2	K562	blood:
2	chr1:92952134..92955339-chr1:92958128..92960891,5	K562	blood:

Variant related genes	Relation type
ENSG00000162676	Chromatin interaction

Extended variants
information (count: 149 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:148)

rs_ID	r²[population]
rs1034218	0.92[CEU][hapmap];0.85[CHB][hapmap];0.84[EUR][1000 genomes]
rs1034219	0.82[CHB][hapmap]
rs1059267	0.92[EUR][1000 genomes]
rs1059268	0.92[EUR][1000 genomes]
rs10735779	0.82[CHB][hapmap]
rs10735781	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs10735782	0.82[CHB][hapmap]
rs10747445	0.82[CHB][hapmap]
rs10747446	0.95[CEU][hapmap];0.85[CHB][hapmap]
rs10747448	0.82[CHB][hapmap]
rs10747449	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10747450	0.82[CHB][hapmap]
rs10782912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10782922	0.82[CHB][hapmap]
rs10782936	0.95[CEU][hapmap];0.85[CHB][hapmap];0.84[EUR][1000 genomes]
rs10782937	0.80[EUR][1000 genomes]
rs10782940	0.82[CHB][hapmap]
rs10874710	0.92[CEU][hapmap];0.85[CHB][hapmap];0.86[EUR][1000 genomes]
rs10874711	0.92[CEU][hapmap];0.85[CHB][hapmap];0.86[EUR][1000 genomes]
rs10874715	0.82[CHB][hapmap]
rs10874716	0.82[CHB][hapmap]
rs10874724	0.84[EUR][1000 genomes]
rs10874725	0.85[CHB][hapmap];0.84[EUR][1000 genomes]
rs10874726	0.82[EUR][1000 genomes]
rs10874727	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs10874728	0.82[CHB][hapmap]
rs10874729	0.82[CHB][hapmap]
rs10874731	0.82[CHB][hapmap]
rs11164601	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164778	0.82[CHB][hapmap]
rs11164785	0.82[EUR][1000 genomes]
rs11164791	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs11164796	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs12025792	0.92[CEU][hapmap];0.85[CHB][hapmap];0.81[EUR][1000 genomes]
rs12046739	0.82[CHB][hapmap]
rs1325434	0.92[CEU][hapmap];0.85[CHB][hapmap];0.94[EUR][1000 genomes]
rs1359490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1408916	0.82[CHB][hapmap]
rs1415294	0.82[CHB][hapmap]
rs1415295	0.82[CHB][hapmap]
rs1537498	0.82[CHB][hapmap]
rs1538029	0.82[CHB][hapmap]
rs1556562	0.82[CHB][hapmap]
rs1556564	0.82[CHB][hapmap]
rs1556565	0.82[CHB][hapmap]
rs1570837	0.82[CHB][hapmap]
rs1886682	0.82[CHB][hapmap]
rs1886683	0.82[CHB][hapmap]
rs1886684	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs1932965	1.00[CHB][hapmap]
rs1932966	0.82[CHB][hapmap]
rs2027059	0.82[CHB][hapmap]
rs2027060	0.82[CHB][hapmap]
rs2039452	0.82[CHB][hapmap]
rs2050597	0.82[CHB][hapmap]
rs2065916	0.82[CHB][hapmap]
rs2095268	0.82[CHB][hapmap]
rs2151577	0.82[CHB][hapmap]
rs2391164	0.82[CHB][hapmap]
rs2893217	0.82[CHB][hapmap]
rs3903212	0.91[CEU][hapmap];0.85[CHB][hapmap];0.88[EUR][1000 genomes]
rs3928821	0.82[CHB][hapmap]
rs3936944	0.81[EUR][1000 genomes]
rs3936945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs3936946	1.00[CHB][hapmap]
rs4000736	0.86[EUR][1000 genomes]
rs4294422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs4294424	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs4484938	0.94[EUR][1000 genomes]
rs4565725	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4568842	0.82[CHB][hapmap]
rs4847181	0.82[CHB][hapmap]
rs4847232	0.82[CHB][hapmap]
rs4847247	0.82[CHB][hapmap]
rs4847266	0.82[CHB][hapmap]
rs4847267	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs4847280	0.82[CHB][hapmap]
rs4847305	0.82[CHB][hapmap]
rs4847327	0.82[CHB][hapmap]
rs4847377	0.82[CHB][hapmap]
rs4847432	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs4970700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4970702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4970703	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4970707	0.86[CEU][hapmap];0.85[CHB][hapmap];0.88[EUR][1000 genomes]
rs4970709	0.82[CHB][hapmap]
rs4970710	0.82[CHB][hapmap]
rs4970712	0.82[CHB][hapmap]
rs4970714	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6422512	0.82[CHB][hapmap]
rs6422515	0.82[CHB][hapmap]
rs6603976	0.94[EUR][1000 genomes]
rs6603979	0.82[CHB][hapmap]
rs6603981	0.82[CHB][hapmap]
rs6603982	0.82[CHB][hapmap]
rs6603984	0.82[CHB][hapmap]
rs6603985	0.82[CHB][hapmap]
rs6603986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6603987	0.82[CHB][hapmap]
rs6603988	0.82[CHB][hapmap]
rs6603989	0.85[EUR][1000 genomes]
rs6603990	0.82[CHB][hapmap]
rs6603992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6603993	0.82[CHB][hapmap]
rs6603994	0.82[CHB][hapmap]
rs6603995	0.82[CHB][hapmap]
rs6603997	0.92[CEU][hapmap];0.85[CHB][hapmap];0.82[EUR][1000 genomes]
rs6603999	0.82[CHB][hapmap]
rs6604003	0.82[CHB][hapmap]
rs6660962	0.88[EUR][1000 genomes]
rs6671114	0.82[CHB][hapmap]
rs6675246	0.82[CHB][hapmap]
rs6682801	0.95[CEU][hapmap];0.85[CHB][hapmap];0.84[EUR][1000 genomes]
rs6692187	0.82[CHB][hapmap]
rs6695638	0.85[EUR][1000 genomes]
rs6696173	0.82[CHB][hapmap]
rs6697491	0.85[EUR][1000 genomes]
rs6701130	0.82[CHB][hapmap]
rs6703440	0.95[EUR][1000 genomes]
rs722356	0.92[CEU][hapmap];0.85[CHB][hapmap];0.90[EUR][1000 genomes]
rs7416169	0.82[CHB][hapmap]
rs7417452	0.84[EUR][1000 genomes]
rs7513775	0.95[CEU][hapmap];0.85[CHB][hapmap];0.88[EUR][1000 genomes]
rs7514156	0.93[EUR][1000 genomes]
rs7514716	0.82[CHB][hapmap]
rs7515577	0.82[CHB][hapmap]
rs7521752	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs7529332	0.82[CHB][hapmap]
rs7529630	0.82[CHB][hapmap]
rs7530780	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs7535490	0.84[EUR][1000 genomes]
rs7540407	0.82[CHB][hapmap]
rs7540564	0.95[EUR][1000 genomes]
rs7541942	0.84[EUR][1000 genomes]
rs7545318	0.82[CHB][hapmap]
rs7553367	0.82[CHB][hapmap]
rs7556243	0.82[CHB][hapmap]
rs912795	0.82[CHB][hapmap]
rs912796	0.92[CEU][hapmap];0.85[CHB][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs914966	0.82[CHB][hapmap]
rs942753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs945724	0.82[CHB][hapmap]
rs963043	0.82[CHB][hapmap]
rs963044	0.82[CHB][hapmap]
rs9651256	0.82[CHB][hapmap]
rs989653	0.82[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523354	chr1:92931263-93064823	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92952800-92991400	Weak transcription	Pancreas	Pancrea
2	chr1:92953200-92960400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:92954000-92960200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:92954000-92960400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:92954200-92960000	Weak transcription	Fetal Thymus	thymus
6	chr1:92955000-92959400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:92955600-92960000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:92956400-92960000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:92956400-92960000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:92956400-92960000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:92956400-92960000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:92956400-92960400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:92956600-92959400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr1:92957000-92960400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:92957400-92960000	Weak transcription	Primary T cells from cord blood	blood
16	chr1:92958200-92961400	Enhancers	HepG2	liver

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