Variant report

Variant	rs8595
Chromosome Location	chr22:31602641-31602642
allele	C/G
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	CTCF	chr22:31602540-31602690	HAc	cerebellar:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31602004..31608593-chr22:31739507..31744494,7	MCF-7	breast:
2	chr22:31602053..31603755-chr22:31608562..31611221,2	MCF-7	breast:

Variant related genes	Relation type
RNF185-AS1	TF binding region
ENSG00000100105	Chromatin interaction
ENSG00000213888	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11089493	0.93[CEU][hapmap]
rs11089495	0.93[CEU][hapmap]
rs1123705	0.88[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1138706	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11556237	1.00[ASN][1000 genomes]
rs11704523	1.00[ASN][1000 genomes]
rs12157877	0.93[CEU][hapmap]
rs16989469	0.94[CEU][hapmap];1.00[ASN][1000 genomes]
rs2057951	0.93[CEU][hapmap]
rs2899161	0.87[CEU][hapmap]
rs56292834	0.88[EUR][1000 genomes]
rs5997917	0.86[CEU][hapmap];1.00[ASN][1000 genomes]
rs5997921	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs5997924	1.00[ASN][1000 genomes]
rs5997937	0.93[CEU][hapmap]
rs5997942	0.86[CEU][hapmap]
rs5997948	0.80[EUR][1000 genomes]
rs5997959	0.93[CEU][hapmap]
rs713619	0.93[CEU][hapmap]
rs7285716	1.00[ASN][1000 genomes]
rs7286926	0.94[CEU][hapmap]
rs739428	0.81[CEU][hapmap];1.00[ASN][1000 genomes]
rs8143159	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31558800-31606000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr22:31570000-31606400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr22:31575800-31607600	Weak transcription	Hela-S3	cervix
4	chr22:31576000-31607800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr22:31576000-31607800	Weak transcription	A549	lung
6	chr22:31579200-31607400	Weak transcription	K562	blood
7	chr22:31580800-31607600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr22:31581400-31607800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:31582800-31603600	Strong transcription	Liver	Liver
10	chr22:31584000-31608200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:31586000-31603800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr22:31588200-31606600	Strong transcription	Fetal Stomach	stomach
13	chr22:31588400-31603400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr22:31588600-31606400	Strong transcription	Fetal Intestine Small	intestine
15	chr22:31589000-31607200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr22:31589400-31603600	Strong transcription	Adipose Nuclei	Adipose
17	chr22:31589400-31605800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr22:31590600-31603200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr22:31592000-31607800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr22:31592800-31606000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr22:31593000-31607400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr22:31593200-31607600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr22:31595000-31605200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr22:31595000-31605800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr22:31595200-31603400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr22:31595200-31603800	Strong transcription	Stomach Smooth Muscle	stomach
27	chr22:31595200-31604400	Strong transcription	Fetal Intestine Large	intestine
28	chr22:31595400-31603000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr22:31595800-31606000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr22:31596600-31606400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr22:31596600-31607600	Weak transcription	Fetal Kidney	kidney
32	chr22:31597000-31603600	Strong transcription	Brain Cingulate Gyrus	brain
33	chr22:31597400-31602800	Strong transcription	HSMMtube	muscle
34	chr22:31598400-31606600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr22:31598400-31606800	Weak transcription	GM12878-XiMat	blood
36	chr22:31598400-31607600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr22:31598400-31607600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr22:31598400-31607600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr22:31598600-31605800	Weak transcription	HUVEC	blood vessel
40	chr22:31598600-31606600	Weak transcription	Primary B cells from cord blood	blood
41	chr22:31598600-31607800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr22:31598800-31607600	Weak transcription	Pancreas	Pancrea
43	chr22:31599200-31603000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr22:31599200-31603400	Strong transcription	Fetal Muscle Leg	muscle
45	chr22:31599200-31606200	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr22:31599400-31602800	Weak transcription	NHLF	lung
47	chr22:31599400-31603000	Weak transcription	Brain Substantia Nigra	brain
48	chr22:31599400-31603000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr22:31599400-31606400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr22:31599400-31606600	Weak transcription	Colonic Mucosa	Colon

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