Variant report

Variant	rs56318295
Chromosome Location	chr22:32022848-32022849
allele	G/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	chr22:32011207-32024507	GM12892	blood:	n/a	n/a
2	POLR2A	chr22:32020745-32024303	GM19193	blood:	n/a	n/a
3	CEBPD	chr22:32022458-32022994	K562	blood:	n/a	chr22:32022902-32022913
4	REST	chr22:32022532-32022963	K562	blood:	n/a	chr22:32022541-32022551 chr22:32022663-32022683
5	POLR2A	chr22:32020849-32023057	HepG2	liver:	n/a	n/a
6	ZBTB7A	chr22:32022574-32022972	K562	blood:	n/a	n/a
7	STAT5A	chr22:32022449-32023034	K562	blood:	n/a	n/a
8	JUND	chr22:32022503-32023087	K562	blood:	n/a	n/a
9	POLR2A	chr22:32022673-32023132	GM12878	blood:	n/a	n/a
10	GATA1	chr22:32022520-32022959	PBDEFetal	blood:	n/a	n/a
11	TBL1XR1	chr22:32022443-32022936	K562	blood:	n/a	n/a
12	PAX5	chr22:32022730-32023216	GM12878	blood:	n/a	chr22:32022996-32023013
13	PAX5	chr22:32022833-32023153	GM12878	blood:	n/a	chr22:32022996-32023013
14	MYC	chr22:32022623-32023039	K562	blood:	n/a	chr22:32022902-32022911
15	IRF1	chr22:32022496-32022965	K562	blood:	n/a	n/a
16	RCOR1	chr22:32022435-32023077	K562	blood:	n/a	n/a
17	HDAC2	chr22:32022510-32022967	K562	blood:	n/a	chr22:32022761-32022770
18	POLR2A	chr22:32013628-32027741	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr22:32022469-32022943	K562	blood:	n/a	n/a
20	STAT5A	chr22:32022515-32022952	K562	blood:	n/a	n/a
21	GATA1	chr22:32022546-32022946	K562	blood:	n/a	n/a
22	POLR2A	chr22:32009001-32024875	GM12878	blood:	n/a	n/a
23	CEBPD	chr22:32022441-32023094	K562	blood:	n/a	chr22:32022902-32022913
24	TBL1XR1	chr22:32022421-32023040	K562	blood:	n/a	n/a
25	GATA1	chr22:32022155-32023033	K562	blood:	n/a	n/a
26	POLR2A	chr22:32021836-32027312	GM12878	blood:	n/a	n/a
27	BHLHE40	chr22:32022412-32022913	K562	blood:	n/a	n/a
28	NR2F2	chr22:32022478-32022964	K562	blood:	n/a	n/a
29	SMC3	chr22:32022539-32022860	K562	blood:	n/a	n/a
30	ELF1	chr22:32022572-32022958	K562	blood:	n/a	n/a
31	EP300	chr22:32022536-32022918	K562	blood:	n/a	chr22:32022899-32022913 chr22:32022760-32022770 chr22:32022541-32022557
32	MAX	chr22:32022420-32023200	K562	blood:	n/a	chr22:32022902-32022911
33	MYC	chr22:32022487-32023073	K562	blood:	n/a	chr22:32022902-32022911
34	GATA2	chr22:32022468-32023003	K562	blood:	n/a	n/a
35	EP300	chr22:32022511-32022994	K562	blood:	n/a	chr22:32022899-32022913 chr22:32022760-32022770 chr22:32022541-32022557
36	POLR2A	chr22:32021987-32023530	K562	blood:	n/a	n/a
37	HMGN3	chr22:32022315-32023306	K562	blood:	n/a	n/a
38	POLR2A	chr22:32021733-32024261	GM18505	blood:	n/a	n/a
39	POLR2A	chr22:32022398-32023175	GM12891	blood:	n/a	n/a
40	ETS1	chr22:32022579-32022888	K562	blood:	n/a	n/a
41	POLR2A	chr22:32022242-32024222	GM12878	blood:	n/a	n/a
42	CCNT2	chr22:32022369-32023014	K562	blood:	n/a	n/a
43	GATA2	chr22:32022431-32023060	K562	blood:	n/a	n/a
44	TRIM28	chr22:32022430-32023020	K562	blood:	n/a	n/a
45	CEBPB	chr22:32022428-32023100	K562	blood:	n/a	chr22:32022901-32022914
46	POLR2A	chr22:32019390-32027366	GM12891	blood:	n/a	n/a
47	HDAC2	chr22:32022539-32022952	K562	blood:	n/a	chr22:32022761-32022770
48	PML	chr22:32022399-32023075	K562	blood:	n/a	n/a
49	TAL1	chr22:32022423-32023058	K562	blood:	n/a	n/a
50	ZBTB7A	chr22:32022593-32022955	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	22:32012966-32043914..22:32347255-32351014	K562	blood:
2	22:31936958-31958600..22:32012966-32043914	GM12878	blood:
3	22:32012966-32043914..22:32513817-32522138	K562	blood:
4	22:31829733-31836635..22:32012966-32043914	GM12878	blood:
5	22:32012966-32043914..22:32665993-32670527	K562	blood:
6	chr22:32022238..32024391-chr22:32055761..32058273,2	MCF-7	breast:
7	22:31930706-31935473..22:32012966-32043914	GM12878	blood:
8	22:32012966-32043914..22:32529813-32538538	K562	blood:
9	22:32012966-32043914..22:32846948-32860159	K562	blood:
10	chr22:31978255..31985248-chr22:32021950..32028161,12	MCF-7	breast:
11	chr22:32008021..32010737-chr22:32022618..32024504,2	MCF-7	breast:
12	chr22:31999125..32001513-chr22:32021753..32023468,2	K562	blood:
13	chr22:32021921..32023710-chr22:32058064..32060097,2	K562	blood:
14	22:32012966-32043914..22:32360288-32405313	K562	blood:

Variant related genes	Relation type
PISD	TF binding region
ENSG00000232707	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000229169	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000240647	Chromatin interaction
ENSG00000234479	Chromatin interaction
ENSG00000238910	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000224050	Chromatin interaction
ENSG00000239674	Chromatin interaction
ENSG00000184708	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs1018486	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1018487	1.00[ASN][1000 genomes]
rs1018488	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12165609	0.94[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];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989274	0.83[ASN][1000 genomes]
rs16989278	0.83[ASN][1000 genomes]
rs16989279	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16989312	1.00[ASN][1000 genomes]
rs16989334	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[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	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41302569	1.00[ASN][1000 genomes]
rs45594940	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55648708	1.00[ASN][1000 genomes]
rs55673702	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55684328	1.00[ASN][1000 genomes]
rs55728055	1.00[ASN][1000 genomes]
rs55734125	1.00[ASN][1000 genomes]
rs55806621	0.83[ASN][1000 genomes]
rs55844032	1.00[ASN][1000 genomes]
rs55853109	0.83[ASN][1000 genomes]
rs55868468	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55894054	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55916646	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55931230	1.00[ASN][1000 genomes]
rs56150546	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56156742	1.00[ASN][1000 genomes]
rs56211407	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56227594	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56298010	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56355520	1.00[ASN][1000 genomes]
rs56411340	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57103115	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	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60324934	0.83[ASN][1000 genomes]
rs60359561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60907110	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61151238	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61249659	0.94[EUR][1000 genomes]
rs61561528	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	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237766	0.83[ASN][1000 genomes]
rs62237767	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237768	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237769	0.83[ASN][1000 genomes]
rs62237770	0.83[ASN][1000 genomes]
rs62237772	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237773	0.83[ASN][1000 genomes]
rs62237774	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237775	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62237790	1.00[ASN][1000 genomes]
rs62237791	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237793	1.00[ASN][1000 genomes]
rs62237794	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237796	1.00[ASN][1000 genomes]
rs62237797	1.00[ASN][1000 genomes]
rs62237798	1.00[ASN][1000 genomes]
rs62237800	1.00[ASN][1000 genomes]
rs62237801	1.00[ASN][1000 genomes]
rs62237806	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237808	1.00[ASN][1000 genomes]
rs62237809	1.00[ASN][1000 genomes]
rs62237811	0.84[EUR][1000 genomes]
rs62237812	1.00[ASN][1000 genomes]
rs62237813	1.00[ASN][1000 genomes]
rs62237814	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237818	1.00[ASN][1000 genomes]
rs62237819	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237829	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[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62237838	1.00[ASN][1000 genomes]
rs62237839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237841	1.00[ASN][1000 genomes]
rs62237843	1.00[ASN][1000 genomes]
rs62237844	0.94[EUR][1000 genomes]
rs62237845	1.00[ASN][1000 genomes]
rs62237846	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237847	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237848	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237849	1.00[ASN][1000 genomes]
rs62237850	1.00[ASN][1000 genomes]
rs62237852	1.00[ASN][1000 genomes]
rs62237857	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239168	1.00[ASN][1000 genomes]
rs62239169	1.00[ASN][1000 genomes]
rs62239172	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62239174	0.94[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	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66666267	0.97[AFR][1000 genomes]
rs67935422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7285091	1.00[ASN][1000 genomes]
rs7285893	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286496	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7287417	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7287509	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7287516	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7288051	1.00[ASN][1000 genomes]
rs7290517	1.00[ASN][1000 genomes]
rs7292913	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7292915	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7293143	0.95[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73160635	0.83[ASN][1000 genomes]
rs73160655	0.83[ASN][1000 genomes]
rs73160658	1.00[ASN][1000 genomes]
rs73160700	1.00[ASN][1000 genomes]
rs73162106	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162112	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8137314	1.00[ASN][1000 genomes]
rs8139274	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8139560	1.00[ASN][1000 genomes]
rs8142002	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142355	1.00[ASN][1000 genomes]
rs8142821	0.83[ASN][1000 genomes]
rs9619215	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9619217	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9621295	1.00[ASN][1000 genomes]
rs9621299	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv829176	chr22:31998223-32029556	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv1845516	chr22:32010436-32024552	Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv2830290	chr22:32011225-32057964	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32010200-32025600	Genic enhancers	Placenta	Placenta
2	chr22:32012600-32024400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr22:32013200-32024000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr22:32013600-32025200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr22:32014000-32025600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr22:32015400-32025200	Weak transcription	Hela-S3	cervix
7	chr22:32016000-32023600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr22:32016400-32025400	Weak transcription	HSMM	muscle
9	chr22:32016600-32025600	Weak transcription	Small Intestine	intestine
10	chr22:32016800-32025600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr22:32017000-32025400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr22:32017600-32025600	Genic enhancers	Spleen	Spleen
13	chr22:32018000-32025400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr22:32018000-32025600	Weak transcription	Aorta	Aorta
15	chr22:32018200-32025600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr22:32018200-32025600	Weak transcription	HSMMtube	muscle
17	chr22:32018400-32023400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr22:32018400-32025200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr22:32018600-32025000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr22:32018800-32024600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:32019000-32023000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr22:32019200-32023200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr22:32019200-32025000	Weak transcription	Osteobl	bone
24	chr22:32019600-32026000	Genic enhancers	Esophagus	oesophagus
25	chr22:32019800-32023600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr22:32020400-32023400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr22:32020400-32025800	Enhancers	Fetal Thymus	thymus
28	chr22:32020600-32023200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr22:32020800-32025600	Genic enhancers	Lung	lung
30	chr22:32020800-32026000	Genic enhancers	Gastric	stomach
31	chr22:32020800-32026000	Enhancers	Stomach Mucosa	stomach
32	chr22:32021200-32023000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr22:32021200-32023000	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr22:32021200-32023200	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr22:32021200-32023600	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr22:32021200-32023800	Flanking Active TSS	K562	blood
37	chr22:32021200-32024000	Enhancers	HUVEC	blood vessel
38	chr22:32021200-32024400	Enhancers	Fetal Heart	heart
39	chr22:32021200-32025400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr22:32021400-32023200	Genic enhancers	NHLF	lung
41	chr22:32021400-32024200	Enhancers	Left Ventricle	heart
42	chr22:32021400-32024800	Enhancers	Ovary	ovary
43	chr22:32021400-32025200	Enhancers	Liver	Liver
44	chr22:32021400-32025800	Enhancers	Right Atrium	heart
45	chr22:32021600-32023400	Enhancers	Colonic Mucosa	Colon
46	chr22:32021600-32023600	Enhancers	Placenta Amnion	Placenta Amnion
47	chr22:32021600-32024200	Enhancers	Fetal Muscle Trunk	muscle
48	chr22:32021800-32023000	Genic enhancers	Primary T cells fromperipheralblood	blood
49	chr22:32021800-32023200	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr22:32021800-32023200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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