Variant report

Variant	rs695630
Chromosome Location	chr22:31797459-31797460
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31686527..31689345-chr22:31795585..31798136,2	MCF-7	breast:
2	chr22:31739411..31743940-chr22:31792561..31797746,12	K562	blood:
3	chr22:31738670..31747056-chr22:31790500..31799012,36	MCF-7	breast:
4	chr22:31737798..31746418-chr22:31793074..31801662,34	MCF-7	breast:
5	chr22:31795756..31797975-chr6:82164220..82166358,2	MCF-7	breast:
6	chr22:31796576..31798824-chr22:32026967..32029510,2	K562	blood:

Variant related genes	Relation type
ENSG00000228839	Chromatin interaction
ENSG00000213888	Chromatin interaction
ENSG00000100105	Chromatin interaction
ENSG00000100100	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11089496	0.84[EUR][1000 genomes]
rs11703005	0.86[EUR][1000 genomes]
rs11703576	0.85[EUR][1000 genomes]
rs11704523	0.80[EUR][1000 genomes]
rs3091392	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55837074	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997965	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60459126	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs695269	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs695455	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs695682	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs695708	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7287715	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8143159	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1063634	chr22:31797004-31921254	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 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	chr22:31796400-31797600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr22:31796400-31799000	Weak transcription	Aorta	Aorta
3	chr22:31796400-31803000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:31796600-31797600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr22:31796600-31798600	Weak transcription	Ovary	ovary
6	chr22:31796600-31799400	Weak transcription	Fetal Brain Male	brain
7	chr22:31796600-31821200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr22:31796600-31830000	Weak transcription	Stomach Mucosa	stomach
9	chr22:31796800-31797600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr22:31796800-31797600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr22:31796800-31797600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr22:31796800-31797600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr22:31796800-31797600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr22:31796800-31797600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr22:31796800-31797600	Weak transcription	Fetal Intestine Large	intestine
16	chr22:31796800-31797600	Genic enhancers	Fetal Muscle Trunk	muscle
17	chr22:31796800-31797800	Weak transcription	Primary T cells from cord blood	blood
18	chr22:31796800-31797800	Enhancers	Esophagus	oesophagus
19	chr22:31796800-31797800	Enhancers	Left Ventricle	heart
20	chr22:31796800-31798200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr22:31796800-31798200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr22:31796800-31798200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr22:31796800-31798200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr22:31796800-31798600	Weak transcription	Brain Anterior Caudate	brain
25	chr22:31796800-31798600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr22:31796800-31798600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr22:31796800-31798600	Weak transcription	Fetal Lung	lung
28	chr22:31796800-31798600	Weak transcription	Lung	lung
29	chr22:31796800-31798600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr22:31796800-31798600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr22:31796800-31798600	Weak transcription	Thymus	Thymus
32	chr22:31796800-31798600	Weak transcription	Spleen	Spleen
33	chr22:31796800-31798600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr22:31796800-31798800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr22:31796800-31798800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr22:31796800-31798800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr22:31796800-31798800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr22:31796800-31799000	Weak transcription	Small Intestine	intestine
39	chr22:31796800-31799200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr22:31796800-31799600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr22:31796800-31802600	Weak transcription	Brain Substantia Nigra	brain
42	chr22:31796800-31803000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr22:31796800-31803000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr22:31796800-31804400	Weak transcription	Colonic Mucosa	Colon
45	chr22:31796800-31805200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr22:31796800-31806600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr22:31796800-31807000	Weak transcription	Fetal Kidney	kidney
48	chr22:31796800-31807000	Weak transcription	A549	lung
49	chr22:31796800-31815800	Weak transcription	Psoas Muscle	Psoas
50	chr22:31796800-31822400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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