Variant report

Variant	rs56411340
Chromosome Location	chr22:31984476-31984477
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31983609..31985774-chr22:32339217..32341040,2	MCF-7	breast:
2	chr22:31982507..31985125-chr22:32018725..32020856,2	MCF-7	breast:
3	chr22:31982271..31984848-chr22:32044660..32046890,2	MCF-7	breast:
4	chr22:31978255..31985248-chr22:32021950..32028161,12	MCF-7	breast:
5	chr22:31974667..31977596-chr22:31983172..31985417,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128245	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000198089	Chromatin interaction

Extended variants
information (count: 152 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:149)

rs_ID	r²[population]
rs1018486	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1018487	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1018488	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12165609	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168645	1.00[ASN][1000 genomes]
rs130089	0.83[ASN][1000 genomes]
rs13433626	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989274	0.83[ASN][1000 genomes]
rs16989278	0.94[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs16989279	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16989312	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16989334	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989336	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989379	1.00[ASN][1000 genomes]
rs16989385	1.00[ASN][1000 genomes]
rs16989427	1.00[ASN][1000 genomes]
rs16989682	0.83[ASN][1000 genomes]
rs16989753	0.83[ASN][1000 genomes]
rs16989760	0.83[ASN][1000 genomes]
rs2009893	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41302569	1.00[ASN][1000 genomes]
rs45594940	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55648708	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55673702	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55684328	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55728055	1.00[ASN][1000 genomes]
rs55734125	1.00[ASN][1000 genomes]
rs55806621	0.83[ASN][1000 genomes]
rs55844032	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55853109	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs55868468	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55894054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55916646	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55931230	1.00[ASN][1000 genomes]
rs56112397	0.82[AFR][1000 genomes]
rs56150546	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56156742	1.00[ASN][1000 genomes]
rs56211407	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56227594	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56298010	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56318295	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56355520	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57103115	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753700	0.83[ASN][1000 genomes]
rs57886497	1.00[ASN][1000 genomes]
rs58365021	1.00[ASN][1000 genomes]
rs58807171	1.00[ASN][1000 genomes]
rs58825043	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60324934	0.83[ASN][1000 genomes]
rs60359561	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60907110	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61151238	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61249659	1.00[EUR][1000 genomes]
rs61561528	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62236225	0.83[ASN][1000 genomes]
rs62236230	0.83[ASN][1000 genomes]
rs62236231	0.83[ASN][1000 genomes]
rs62236232	0.83[ASN][1000 genomes]
rs62236257	0.83[ASN][1000 genomes]
rs62236258	0.83[ASN][1000 genomes]
rs62237760	0.83[ASN][1000 genomes]
rs62237761	0.83[ASN][1000 genomes]
rs62237765	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237766	0.94[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62237767	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237768	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237769	0.94[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62237770	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62237772	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237773	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62237774	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237775	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237790	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237793	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237794	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237796	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237797	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237798	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237800	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237801	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237806	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237808	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237809	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237810	0.82[AFR][1000 genomes]
rs62237811	0.89[EUR][1000 genomes]
rs62237812	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237813	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237814	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237818	1.00[ASN][1000 genomes]
rs62237819	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237829	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237832	1.00[ASN][1000 genomes]
rs62237833	1.00[ASN][1000 genomes]
rs62237834	1.00[ASN][1000 genomes]
rs62237836	1.00[ASN][1000 genomes]
rs62237837	1.00[ASN][1000 genomes]
rs62237838	1.00[ASN][1000 genomes]
rs62237839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237841	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237843	1.00[ASN][1000 genomes]
rs62237844	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62237845	1.00[ASN][1000 genomes]
rs62237846	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237847	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237848	0.94[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237849	1.00[ASN][1000 genomes]
rs62237850	1.00[ASN][1000 genomes]
rs62237852	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237857	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239168	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62239169	1.00[ASN][1000 genomes]
rs62239172	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239174	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239180	1.00[ASN][1000 genomes]
rs62239181	1.00[ASN][1000 genomes]
rs62239182	1.00[ASN][1000 genomes]
rs62239183	1.00[ASN][1000 genomes]
rs62240689	1.00[ASN][1000 genomes]
rs6518753	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67935422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7285091	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7285893	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7287417	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7287509	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7287516	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7288051	1.00[ASN][1000 genomes]
rs7290517	1.00[ASN][1000 genomes]
rs7292913	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7292915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7293143	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73160635	0.83[ASN][1000 genomes]
rs73160655	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs73160658	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73160700	1.00[ASN][1000 genomes]
rs73162106	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162112	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8137314	1.00[ASN][1000 genomes]
rs8139274	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8139316	0.97[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs8139560	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8142002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142355	1.00[ASN][1000 genomes]
rs8142821	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9619215	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9619217	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9621295	1.00[ASN][1000 genomes]
rs9621299	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv517534	chr22:31977594-32024980	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31929800-31985600	Weak transcription	Fetal Kidney	kidney
2	chr22:31935200-31985400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:31935800-32013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr22:31947800-32009600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr22:31949400-32014400	Weak transcription	Hela-S3	cervix
6	chr22:31957400-32016400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:31964600-31993600	Weak transcription	Psoas Muscle	Psoas
8	chr22:31967000-31985400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr22:31968800-31986200	Strong transcription	Fetal Thymus	thymus
10	chr22:31968800-32003800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr22:31974400-31998200	Weak transcription	Small Intestine	intestine
12	chr22:31974800-31998200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr22:31975000-32003800	Weak transcription	Aorta	Aorta
14	chr22:31976200-32014800	Weak transcription	A549	lung
15	chr22:31976400-32014800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr22:31976400-32019200	Weak transcription	Fetal Brain Male	brain
17	chr22:31977000-31985400	Weak transcription	Stomach Mucosa	stomach
18	chr22:31978200-31987200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr22:31978400-31985800	Strong transcription	Thymus	Thymus
20	chr22:31978600-31985800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr22:31979600-31984600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr22:31979600-31985800	Strong transcription	Dnd41	blood
23	chr22:31979600-31986200	Strong transcription	Primary T cells from cord blood	blood
24	chr22:31979600-31986200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr22:31979600-31986400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr22:31979800-31984600	Strong transcription	Primary hematopoietic stem cells	blood
27	chr22:31979800-31984600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr22:31979800-31984600	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr22:31979800-31984600	Strong transcription	Stomach Smooth Muscle	stomach
30	chr22:31979800-31984800	Strong transcription	Duodenum Mucosa	Duodenum
31	chr22:31979800-31985800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr22:31979800-31985800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr22:31979800-31985800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr22:31979800-31985800	Strong transcription	Fetal Muscle Trunk	muscle
35	chr22:31979800-31986200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr22:31979800-31986200	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr22:31980000-31984600	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr22:31980000-31985800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr22:31981000-31985200	Strong transcription	Fetal Brain Female	brain
40	chr22:31981000-31985800	Strong transcription	Brain Germinal Matrix	brain
41	chr22:31981200-31984600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr22:31981200-31984600	Strong transcription	Fetal Muscle Leg	muscle
43	chr22:31981200-31986400	Weak transcription	Fetal Heart	heart
44	chr22:31981400-31984600	Strong transcription	Esophagus	oesophagus
45	chr22:31981400-31984600	Strong transcription	Ovary	ovary
46	chr22:31981400-31986200	Strong transcription	Fetal Stomach	stomach
47	chr22:31981600-31984600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr22:31981600-31985800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr22:31981600-31985800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr22:31981800-31985200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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