Variant report

Variant	rs11703576
Chromosome Location	chr22:31695485-31695486
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31695233..31696902-chr22:31739881..31742693,2	MCF-7	breast:
2	chr22:31688274..31691466-chr22:31695297..31698444,3	K562	blood:
3	chr22:31678127..31679737-chr22:31693354..31695719,2	MCF-7	breast:
4	chr22:31693951..31696638-chr22:31709561..31711095,2	MCF-7	breast:
5	chr22:31685491..31688592-chr22:31694891..31698281,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100105	Chromatin interaction
ENSG00000228839	Chromatin interaction
ENSG00000100100	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11089493	0.81[EUR][1000 genomes]
rs11089495	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11089496	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1123705	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1138706	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11556237	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11703005	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704523	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16989469	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1985726	0.83[AMR][1000 genomes]
rs2057951	0.85[EUR][1000 genomes]
rs2899161	0.83[EUR][1000 genomes]
rs4293639	0.88[EUR][1000 genomes]
rs55837074	0.92[EUR][1000 genomes]
rs56292834	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs57523999	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5753523	0.84[EUR][1000 genomes]
rs5753554	0.85[EUR][1000 genomes]
rs5753629	1.00[ASN][1000 genomes]
rs5994386	0.88[EUR][1000 genomes]
rs5994387	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997917	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5997924	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5997942	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5997948	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997956	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997959	0.83[EUR][1000 genomes]
rs5997965	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60459126	0.83[EUR][1000 genomes]
rs695269	0.82[EUR][1000 genomes]
rs695630	0.85[EUR][1000 genomes]
rs713619	0.85[EUR][1000 genomes]
rs7285027	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7285716	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7286926	0.82[EUR][1000 genomes]
rs7287715	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs739428	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8143159	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9680708	0.85[EUR][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	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31689000-31696400	Weak transcription	HepG2	liver
2	chr22:31689200-31696400	Weak transcription	Liver	Liver
3	chr22:31689200-31696400	Weak transcription	Right Atrium	heart
4	chr22:31689400-31709000	Weak transcription	Placenta	Placenta
5	chr22:31689800-31695600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr22:31690200-31704200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr22:31692600-31709200	Weak transcription	Stomach Mucosa	stomach
8	chr22:31692800-31697800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr22:31692800-31698400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr22:31693000-31696200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr22:31693000-31697800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr22:31693200-31695600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr22:31693200-31696200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr22:31693200-31696400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr22:31693200-31697200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr22:31693400-31696000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr22:31693400-31696200	Weak transcription	Adipose Nuclei	Adipose
18	chr22:31693400-31696400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr22:31693400-31696400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr22:31693400-31697000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr22:31693400-31700800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr22:31693400-31702400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr22:31693400-31709200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr22:31693800-31696800	Weak transcription	Small Intestine	intestine
25	chr22:31693800-31720000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr22:31694000-31700800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr22:31694200-31696400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr22:31694200-31696400	Weak transcription	Fetal Intestine Large	intestine
29	chr22:31694200-31696400	Weak transcription	Fetal Intestine Small	intestine
30	chr22:31694200-31697800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr22:31694200-31702600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr22:31694400-31696400	Weak transcription	Ovary	ovary
33	chr22:31694600-31698000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr22:31694800-31695600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
35	chr22:31695000-31695600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr22:31695000-31695800	Strong transcription	Primary T cells from cord blood	blood
37	chr22:31695000-31703000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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