Variant report

Variant	rs5753700
Chromosome Location	chr22:31971258-31971259
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:31961151-31976153..22:33253287-33262063	K562	blood:
2	chr22:31969040..31971908-chr22:31972285..31974264,2	MCF-7	breast:
3	22:31961151-31976153..22:32513817-32522138	K562	blood:
4	chr22:31970328..31972082-chr22:32024479..32026454,2	K562	blood:
5	22:31961151-31976153..22:33030812-33041554	K562	blood:
6	22:31961151-31976153..22:32284948-32287956	K562	blood:
7	chr22:31970602..31972211-chr22:32029166..32030723,2	K562	blood:

Variant related genes	Relation type
ENSG00000227813	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000251890	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000183531	Chromatin interaction
ENSG00000234479	Chromatin interaction

Extended variants
information (count: 168 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:164)

rs_ID	r²[population]
rs1018487	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1018488	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs12160763	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[TSI][hapmap]
rs12165609	0.83[ASN][1000 genomes]
rs12168645	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs130089	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13433626	0.83[ASN][1000 genomes]
rs16989274	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989278	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989279	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs16989312	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16989334	1.00[CEU][hapmap];1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs16989336	1.00[CEU][hapmap];0.83[ASN][1000 genomes]
rs16989337	1.00[ASW][hapmap]
rs16989379	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16989385	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16989427	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16989617	1.00[CEU][hapmap];1.00[CHD][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16989620	1.00[CEU][hapmap];1.00[CHD][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16989623	1.00[CEU][hapmap];0.86[ASN][1000 genomes]
rs16989635	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[ASN][1000 genomes]
rs16989638	1.00[CEU][hapmap];0.86[ASN][1000 genomes]
rs16989650	0.86[ASN][1000 genomes]
rs16989682	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989753	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989760	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2009893	0.83[ASN][1000 genomes]
rs2180142	1.00[CEU][hapmap];0.86[ASN][1000 genomes]
rs41302569	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs45594940	0.83[ASN][1000 genomes]
rs55648708	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55673702	0.83[ASN][1000 genomes]
rs55684328	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55728055	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55734125	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55806621	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55844032	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55853109	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55868468	0.83[ASN][1000 genomes]
rs55894054	0.83[ASN][1000 genomes]
rs55916646	0.83[ASN][1000 genomes]
rs55931230	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56112397	1.00[EUR][1000 genomes]
rs56150546	0.83[ASN][1000 genomes]
rs56156742	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56211407	0.83[ASN][1000 genomes]
rs56227594	0.83[ASN][1000 genomes]
rs56298010	0.83[ASN][1000 genomes]
rs56314242	0.86[ASN][1000 genomes]
rs56318295	0.83[ASN][1000 genomes]
rs56355520	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56385611	0.86[ASN][1000 genomes]
rs56411340	0.83[ASN][1000 genomes]
rs57103115	0.83[ASN][1000 genomes]
rs57886497	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58365021	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58807171	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58825043	0.86[ASN][1000 genomes]
rs5998099	0.81[YRI][hapmap]
rs60324934	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60359561	0.83[ASN][1000 genomes]
rs60907110	1.00[ASN][1000 genomes]
rs61151238	0.83[ASN][1000 genomes]
rs61561528	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62236215	0.86[ASN][1000 genomes]
rs62236218	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62236223	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62236224	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62236225	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236226	0.81[EUR][1000 genomes]
rs62236230	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236231	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236232	1.00[ASN][1000 genomes]
rs62236257	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236258	1.00[ASN][1000 genomes]
rs62237760	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237761	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237764	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237765	1.00[ASN][1000 genomes]
rs62237766	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237767	1.00[ASN][1000 genomes]
rs62237768	1.00[ASN][1000 genomes]
rs62237769	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237770	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237772	1.00[ASN][1000 genomes]
rs62237773	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237774	1.00[ASN][1000 genomes]
rs62237775	1.00[ASN][1000 genomes]
rs62237790	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237791	0.83[ASN][1000 genomes]
rs62237793	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237794	0.83[ASN][1000 genomes]
rs62237796	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237797	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237798	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237800	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237801	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237806	0.83[ASN][1000 genomes]
rs62237808	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237809	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237812	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237813	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237814	0.83[ASN][1000 genomes]
rs62237818	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237819	0.83[ASN][1000 genomes]
rs62237829	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237832	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237833	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237834	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237836	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237837	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237838	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237839	0.83[ASN][1000 genomes]
rs62237841	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237843	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237845	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237846	0.83[ASN][1000 genomes]
rs62237847	0.83[ASN][1000 genomes]
rs62237848	0.83[ASN][1000 genomes]
rs62237849	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237850	0.83[ASN][1000 genomes]
rs62237852	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237857	0.83[ASN][1000 genomes]
rs62239168	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62239169	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62239172	0.83[ASN][1000 genomes]
rs62239174	0.83[ASN][1000 genomes]
rs62239180	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62239181	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62239182	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62239183	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62240685	1.00[EUR][1000 genomes]
rs62240689	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6518753	0.83[ASN][1000 genomes]
rs66666267	1.00[EUR][1000 genomes]
rs67935422	0.83[ASN][1000 genomes]
rs7285091	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7285893	1.00[CEU][hapmap];0.83[ASN][1000 genomes]
rs7286496	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs7287417	0.83[ASN][1000 genomes]
rs7287509	0.83[ASN][1000 genomes]
rs7287516	0.83[ASN][1000 genomes]
rs7288051	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7290517	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7292913	1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs7292915	0.83[ASN][1000 genomes]
rs7293143	1.00[CEU][hapmap];0.83[ASN][1000 genomes]
rs73160635	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73160655	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73160658	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73160700	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73162106	0.83[ASN][1000 genomes]
rs73162112	0.83[ASN][1000 genomes]
rs8137314	0.83[ASN][1000 genomes]
rs8139274	0.83[ASN][1000 genomes]
rs8139560	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8142002	0.83[ASN][1000 genomes]
rs8142355	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8142821	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9619215	1.00[CEU][hapmap];0.83[ASN][1000 genomes]
rs9619217	1.00[CEU][hapmap];0.83[ASN][1000 genomes]
rs9621295	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9621299	0.83[ASN][1000 genomes]
rs9680589	1.00[CEU][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459872	chr22:31833759-31977594	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv588894	chr22:31833759-31977594	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv914979	chr22:31964043-31990184	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv914980	chr22:31966274-32024980	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31927400-31979400	Weak transcription	NHDF-Ad	bronchial
2	chr22:31927400-31980000	Weak transcription	HSMMtube	muscle
3	chr22:31927600-31974200	Weak transcription	Small Intestine	intestine
4	chr22:31929800-31985600	Weak transcription	Fetal Kidney	kidney
5	chr22:31933600-31979600	Weak transcription	HUVEC	blood vessel
6	chr22:31934000-31981000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr22:31935200-31985400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:31935800-32013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr22:31941400-31981400	Weak transcription	NHEK	skin
10	chr22:31947400-31972800	Weak transcription	Esophagus	oesophagus
11	chr22:31947800-32009600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr22:31948000-31973400	Weak transcription	Liver	Liver
13	chr22:31948200-31980000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr22:31949200-31971800	Weak transcription	NHLF	lung
15	chr22:31949200-31973400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr22:31949200-31981600	Weak transcription	Left Ventricle	heart
17	chr22:31949400-32014400	Weak transcription	Hela-S3	cervix
18	chr22:31949600-31977800	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr22:31949800-31976400	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr22:31954400-31980000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr22:31956200-31973400	Weak transcription	HSMM	muscle
22	chr22:31957200-31977800	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr22:31957400-31974200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr22:31957400-32016400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr22:31957600-31973400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr22:31957800-31975800	Weak transcription	Stomach Mucosa	stomach
27	chr22:31957800-31975800	Weak transcription	A549	lung
28	chr22:31957800-31979600	Weak transcription	K562	blood
29	chr22:31958000-31975800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr22:31958000-31983000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr22:31962600-31973000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr22:31963200-31976400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr22:31964400-31979800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr22:31964600-31993600	Weak transcription	Psoas Muscle	Psoas
35	chr22:31965000-31977600	Strong transcription	Primary T cells from cord blood	blood
36	chr22:31965200-31977200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr22:31965200-31977400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr22:31965200-31977600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr22:31965600-31976400	Strong transcription	Fetal Stomach	stomach
40	chr22:31965800-31976600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr22:31966200-31976400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr22:31966400-31976800	Strong transcription	Thymus	Thymus
43	chr22:31966600-31974600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr22:31967000-31977200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr22:31967000-31977600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr22:31967000-31985400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr22:31967200-31981000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr22:31967800-31975000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr22:31967800-31977200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr22:31968000-31973400	Weak transcription	Right Ventricle	heart

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