Variant report

Variant	rs11703079
Chromosome Location	chr22:32054363-32054364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:32053085-32061138..22:32150875-32154575	GM12878	blood:
2	22:32053085-32061138..22:32284948-32287956	Hela-S3	cervix:
3	chr22:32051507..32054411-chr22:32057441..32059720,3	K562	blood:
4	22:32053085-32061138..22:32347255-32351014	GM12878	blood:
5	chr22:32052747..32055838-chr22:32055972..32058709,3	MCF-7	breast:
6	22:31936958-31958600..22:32053085-32061138	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000242251	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000238910	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000227813	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs1013703	1.00[CHB][hapmap];0.84[MEX][hapmap]
rs1076674	1.00[CHB][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.86[AMR][1000 genomes]
rs11703040	1.00[CHB][hapmap]
rs11703102	1.00[CHB][hapmap];0.87[LWK][hapmap];0.81[MKK][hapmap];0.94[AMR][1000 genomes]
rs11703104	1.00[CHB][hapmap]
rs11703232	1.00[CHB][hapmap]
rs11703275	1.00[CHB][hapmap]
rs11703798	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704129	1.00[CHB][hapmap]
rs11705235	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs11705329	1.00[CHB][hapmap];0.92[MEX][hapmap]
rs12157427	0.85[AMR][1000 genomes]
rs12158002	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12159673	1.00[CHB][hapmap]
rs12160120	1.00[CHB][hapmap];0.83[AMR][1000 genomes]
rs12160737	0.85[AMR][1000 genomes]
rs12166848	0.86[AMR][1000 genomes]
rs12171217	0.80[YRI][hapmap]
rs131222	0.83[AMR][1000 genomes]
rs131224	0.83[AMR][1000 genomes]
rs131226	0.82[AMR][1000 genomes]
rs131228	1.00[CHB][hapmap];0.82[AMR][1000 genomes]
rs131231	0.92[MEX][hapmap]
rs131235	1.00[CHB][hapmap];0.85[AMR][1000 genomes]
rs131237	1.00[CHB][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs131243	1.00[CHB][hapmap];0.92[MEX][hapmap]
rs131246	1.00[CHB][hapmap]
rs131252	1.00[CHB][hapmap]
rs131254	1.00[CHB][hapmap];0.92[MEX][hapmap]
rs140079	1.00[CHB][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs16989291	1.00[MEX][hapmap]
rs16989347	0.91[YRI][hapmap]
rs16989374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989529	1.00[CHB][hapmap]
rs16989540	0.84[MEX][hapmap]
rs2040981	1.00[CHB][hapmap]
rs2413054	0.85[MEX][hapmap]
rs28374732	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3804088	1.00[CHB][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs56406828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753682	0.85[MEX][hapmap]
rs5753753	0.85[AMR][1000 genomes]
rs5994417	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994424	0.81[AMR][1000 genomes]
rs5998063	0.87[AMR][1000 genomes]
rs5998064	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998065	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998066	1.00[CHB][hapmap];0.94[AMR][1000 genomes]
rs5998068	1.00[CHB][hapmap];1.00[MEX][hapmap];0.94[AMR][1000 genomes]
rs5998070	0.94[AMR][1000 genomes]
rs5998071	0.94[AMR][1000 genomes]
rs5998074	0.92[MEX][hapmap]
rs5998079	1.00[CHB][hapmap];0.85[AMR][1000 genomes]
rs5998080	1.00[CHB][hapmap];0.86[AMR][1000 genomes]
rs5998081	0.85[AMR][1000 genomes]
rs5998082	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5998084	0.85[AMR][1000 genomes]
rs5998085	1.00[CHB][hapmap];0.83[AMR][1000 genomes]
rs5998089	0.85[AMR][1000 genomes]
rs5998091	0.83[AMR][1000 genomes]
rs5998093	0.83[AMR][1000 genomes]
rs5998095	0.85[AMR][1000 genomes]
rs5998098	1.00[CHB][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.88[AMR][1000 genomes]
rs5998099	1.00[CHB][hapmap];0.87[AMR][1000 genomes]
rs5998114	1.00[CHB][hapmap];0.92[MEX][hapmap]
rs5998115	0.84[MEX][hapmap]
rs5998133	1.00[CHB][hapmap]
rs5998134	1.00[CHB][hapmap]
rs5998135	1.00[CHB][hapmap]
rs5998144	0.84[MEX][hapmap]
rs60209974	0.84[AMR][1000 genomes]
rs60669705	0.86[AMR][1000 genomes]
rs62239167	0.94[AMR][1000 genomes]
rs62239185	0.82[AMR][1000 genomes]
rs62239186	0.85[AMR][1000 genomes]
rs62239187	0.86[AMR][1000 genomes]
rs62239188	0.87[AMR][1000 genomes]
rs62240684	0.85[AMR][1000 genomes]
rs62240686	0.81[AMR][1000 genomes]
rs62240687	0.81[AMR][1000 genomes]
rs7289259	1.00[CHB][hapmap]
rs740227	0.81[AMR][1000 genomes]
rs8136047	1.00[CHB][hapmap];0.86[AMR][1000 genomes]
rs8141719	1.00[CHB][hapmap];0.85[AMR][1000 genomes]
rs8143084	0.85[AMR][1000 genomes]
rs81946	0.82[AMR][1000 genomes]
rs9619218	0.90[YRI][hapmap]
rs9619221	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9619222	0.86[AMR][1000 genomes]
rs9619224	1.00[CHB][hapmap];0.88[AMR][1000 genomes]
rs9621307	0.94[AMR][1000 genomes]
rs9621316	0.86[AMR][1000 genomes]

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	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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32034400-32056400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:32036400-32056400	Weak transcription	Colonic Mucosa	Colon
3	chr22:32041400-32056400	Weak transcription	Ovary	ovary
4	chr22:32041600-32057400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:32042800-32057000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr22:32043000-32057000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr22:32043800-32056600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr22:32044000-32056200	Weak transcription	Fetal Heart	heart
9	chr22:32044000-32056800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr22:32044200-32056400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr22:32044200-32056400	Weak transcription	Fetal Brain Male	brain
12	chr22:32044200-32057000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr22:32044200-32057000	Weak transcription	Fetal Kidney	kidney
14	chr22:32044400-32056400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr22:32044400-32056400	Weak transcription	Lung	lung
16	chr22:32044400-32057000	Weak transcription	HSMMtube	muscle
17	chr22:32044600-32056600	Weak transcription	HUVEC	blood vessel
18	chr22:32045000-32056400	Weak transcription	Brain Hippocampus Middle	brain
19	chr22:32045000-32057200	Weak transcription	Thymus	Thymus
20	chr22:32045200-32056400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr22:32045200-32057000	Weak transcription	Colon Smooth Muscle	Colon
22	chr22:32045200-32057200	Weak transcription	Aorta	Aorta
23	chr22:32045400-32056400	Weak transcription	Brain Germinal Matrix	brain
24	chr22:32045400-32056400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr22:32045400-32056600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr22:32045400-32057000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr22:32045400-32057000	Weak transcription	Fetal Lung	lung
28	chr22:32045600-32057000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr22:32046000-32055800	Weak transcription	Dnd41	blood
30	chr22:32046000-32056400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr22:32046000-32056600	Weak transcription	Primary B cells from cord blood	blood
32	chr22:32046000-32057000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:32046000-32057200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr22:32046200-32056400	Weak transcription	Liver	Liver
35	chr22:32046200-32056600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr22:32046200-32056800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr22:32046200-32057000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr22:32046400-32056400	Weak transcription	Left Ventricle	heart
39	chr22:32046400-32056600	Weak transcription	Small Intestine	intestine
40	chr22:32046400-32057000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:32046600-32056200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr22:32046600-32056400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr22:32046600-32057200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr22:32046800-32055000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr22:32046800-32055600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr22:32046800-32056200	Weak transcription	Fetal Intestine Large	intestine
47	chr22:32046800-32056400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr22:32046800-32056400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr22:32046800-32056400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr22:32046800-32056400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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