Variant report

Variant	rs8137317
Chromosome Location	chr22:31518824-31518825
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:50 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr22:31518723-31519731	HEK293-T-REx	kidney:	n/a	n/a
2	POLR2A	chr22:31518790-31519054	ProgFib	skin:	n/a	n/a
3	E2F4	chr22:31518805-31519074	MCF10A-Er-Src	breast:	n/a	n/a
4	RFX5	chr22:31517988-31519697	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr22:31518799-31519090	Hela-S3	cervix:	n/a	n/a
6	BRCA1	chr22:31518655-31519059	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr22:31518608-31519304	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr22:31518746-31519201	ECC-1	luminal epithelium:	n/a	n/a
9	MAX	chr22:31518749-31519036	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr22:31518822-31519181	MCF-7	breast:	n/a	n/a
11	POLR2A	chr22:31518801-31518838	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr22:31518673-31519192	ECC-1	luminal epithelium:	n/a	n/a
13	JUND	chr22:31518732-31519076	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr22:31518740-31518970	GM12867	blood:	n/a	n/a
15	RFX5	chr22:31518756-31519117	H1-hESC	embryonic stem cell:	n/a	n/a
16	RCOR1	chr22:31518702-31519531	Hela-S3	cervix:	n/a	n/a
17	NFIC	chr22:31518355-31519148	ECC-1	luminal epithelium:	n/a	chr22:31518555-31518572
18	ZNF143	chr22:31518708-31519452	Hela-S3	cervix:	n/a	chr22:31519251-31519269
19	POLR2A	chr22:31518744-31519126	HCT-116	colon:	n/a	n/a
20	NR2F2	chr22:31518260-31518937	MCF-7	breast:	n/a	n/a
21	TAF1	chr22:31518804-31519118	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr22:31518750-31519096	H1-hESC	embryonic stem cell:	n/a	n/a
23	REST	chr22:31518519-31519695	H1-neurons	neurons:	n/a	chr22:31519191-31519211 chr22:31519219-31519237 chr22:31519177-31519195
24	JUND	chr22:31518727-31519259	K562	blood:	n/a	n/a
25	POLR2A	chr22:31518792-31519206	SK-N-MC	brain:	n/a	n/a
26	RFX5	chr22:31518742-31519099	HepG2	liver:	n/a	n/a
27	RFX5	chr22:31518207-31519310	IMR90	lung:	n/a	n/a
28	TAF1	chr22:31518788-31519342	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr22:31518745-31519352	H1-neurons	neurons:	n/a	n/a
30	CEBPB	chr22:31518742-31519090	Hela-S3	cervix:	n/a	n/a
31	MAX	chr22:31518583-31519211	ECC-1	luminal epithelium:	n/a	n/a
32	CREB1	chr22:31518807-31519001	A549	lung:	n/a	n/a
33	RFX5	chr22:31518509-31519377	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr22:31518740-31519181	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr22:31518733-31519139	K562	blood:	n/a	n/a
36	ATF2	chr22:31518653-31519058	H1-hESC	embryonic stem cell:	n/a	n/a
37	ZKSCAN1	chr22:31518608-31518992	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr22:31518605-31519411	H1-hESC	embryonic stem cell:	n/a	n/a
39	JUND	chr22:31518798-31519070	HepG2	liver:	n/a	n/a
40	CREB1	chr22:31518655-31519210	H1-hESC	embryonic stem cell:	n/a	n/a
41	SMC3	chr22:31518813-31519081	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr22:31518672-31519167	Gliobla	brain:	n/a	n/a
43	TBP	chr22:31518802-31519032	H1-hESC	embryonic stem cell:	n/a	n/a
44	GTF2F1	chr22:31518644-31518985	Hela-S3	cervix:	n/a	n/a
45	MAZ	chr22:31518372-31519126	Hela-S3	cervix:	n/a	n/a
46	TAF1	chr22:31518773-31519406	H1-neurons	neurons:	n/a	n/a
47	POLR2A	chr22:31518710-31519273	H1-neurons	neurons:	n/a	n/a
48	ATF2	chr22:31518728-31519136	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr22:31518801-31519227	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr22:31518700-31519152	HCT-116	colon:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31516152..31519079-chr22:31523414..31526420,3	MCF-7	breast:
2	chr22:31516943..31520253-chr22:31521243..31524070,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198832	TF binding region
INPP5J	TF binding region
ENSG00000185133	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11089488	0.87[ASN][1000 genomes]
rs11703478	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12330010	0.87[ASN][1000 genomes]
rs13054770	0.87[ASN][1000 genomes]
rs2229875	1.00[CHB][hapmap]
rs2413027	1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35342535	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35413173	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35657209	0.87[ASN][1000 genomes]
rs35685997	0.87[ASN][1000 genomes]
rs62236159	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7284757	1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs740231	1.00[CHB][hapmap]
rs8135353	0.87[ASN][1000 genomes]
rs9621184	0.87[ASN][1000 genomes]
rs9621185	0.87[ASN][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	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31517800-31519400	Enhancers	K562	blood
2	chr22:31518000-31519800	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr22:31518200-31519000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr22:31518200-31519000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr22:31518200-31519000	Enhancers	HSMMtube	muscle
6	chr22:31518200-31519200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr22:31518200-31519200	Enhancers	Psoas Muscle	Psoas
8	chr22:31518200-31519400	Enhancers	Placenta	Placenta
9	chr22:31518200-31519800	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr22:31518200-31519800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr22:31518200-31520200	Enhancers	Fetal Brain Male	brain
12	chr22:31518400-31519000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr22:31518400-31519000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr22:31518400-31519000	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr22:31518400-31519000	Enhancers	Spleen	Spleen
16	chr22:31518400-31519400	Flanking Active TSS	Colonic Mucosa	Colon
17	chr22:31518400-31519600	Flanking Bivalent TSS/Enh	HepG2	liver
18	chr22:31518400-31520000	Flanking Active TSS	Hela-S3	cervix
19	chr22:31518600-31519000	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr22:31518600-31519000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:31518600-31519000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr22:31518600-31519000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr22:31518600-31519000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
24	chr22:31518600-31519000	Flanking Active TSS	Left Ventricle	heart
25	chr22:31518600-31519000	Flanking Active TSS	Osteobl	bone
26	chr22:31518600-31519200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr22:31518600-31519200	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr22:31518600-31519200	Flanking Active TSS	Fetal Brain Female	brain
29	chr22:31518600-31519200	Enhancers	Ovary	ovary
30	chr22:31518600-31519200	Flanking Active TSS	HMEC	breast
31	chr22:31518600-31519400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr22:31518600-31519400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:31518600-31519400	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr22:31518600-31519600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr22:31518600-31519600	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr22:31518600-31519600	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr22:31518600-31519600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr22:31518600-31519600	Enhancers	Brain Substantia Nigra	brain
39	chr22:31518600-31519600	Flanking Active TSS	Fetal Intestine Small	intestine
40	chr22:31518600-31519600	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr22:31518600-31519600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr22:31518600-31519800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr22:31518600-31519800	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr22:31518600-31519800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr22:31518600-31520000	Active TSS	Brain Hippocampus Middle	brain
46	chr22:31518800-31519000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr22:31518800-31519000	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr22:31518800-31519000	Enhancers	Adipose Nuclei	Adipose
49	chr22:31518800-31519000	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr22:31518800-31519000	Active TSS	Rectal Smooth Muscle	rectum

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