Variant report

Variant	rs8137917
Chromosome Location	chr22:31519173-31519174
allele	C/T
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	ZNF263	chr22:31518723-31519731	HEK293-T-REx	kidney:	n/a	n/a
2	RFX5	chr22:31517988-31519697	SK-N-SH	brain:	n/a	n/a
3	RCOR1	chr22:31518897-31519578	K562	blood:	n/a	n/a
4	POLR2A	chr22:31518608-31519304	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr22:31518746-31519201	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr22:31518822-31519181	MCF-7	breast:	n/a	n/a
7	POLR2A	chr22:31518673-31519192	ECC-1	luminal epithelium:	n/a	n/a
8	RCOR1	chr22:31518702-31519531	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr22:31518847-31519182	MCF-7	breast:	n/a	n/a
10	ZNF143	chr22:31518708-31519452	Hela-S3	cervix:	n/a	chr22:31519251-31519269
11	REST	chr22:31518519-31519695	H1-neurons	neurons:	n/a	chr22:31519191-31519211 chr22:31519219-31519237 chr22:31519177-31519195
12	JUND	chr22:31518727-31519259	K562	blood:	n/a	n/a
13	POLR2A	chr22:31518792-31519206	SK-N-MC	brain:	n/a	n/a
14	RFX5	chr22:31518207-31519310	IMR90	lung:	n/a	n/a
15	TAF1	chr22:31518788-31519342	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr22:31518745-31519352	H1-neurons	neurons:	n/a	n/a
17	MAX	chr22:31518583-31519211	ECC-1	luminal epithelium:	n/a	n/a
18	RFX5	chr22:31518509-31519377	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr22:31518740-31519181	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr22:31518605-31519411	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr22:31518995-31519180	HepG2	liver:	n/a	n/a
22	CREB1	chr22:31518655-31519210	H1-hESC	embryonic stem cell:	n/a	n/a
23	KAP1	chr22:31518934-31519475	HEK293	kidney:	n/a	n/a
24	TAF1	chr22:31518773-31519406	H1-neurons	neurons:	n/a	n/a
25	POLR2A	chr22:31518710-31519273	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr22:31518801-31519227	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31519059..31520976-chr22:31535041..31537963,2	K562	blood:
2	chr22:31519081..31520607-chr22:31520876..31523639,2	MCF-7	breast:
3	chr22:31516943..31520253-chr22:31521243..31524070,4	K562	blood:
4	chr22:31519012..31520650-chr22:31555414..31558501,3	MCF-7	breast:

Variant related genes	Relation type
INPP5J	TF binding region
ENSG00000198832	TF binding region
ENSG00000138942	Chromatin interaction
ENSG00000264141	Chromatin interaction
ENSG00000185133	Chromatin interaction
ENSG00000100078	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs34292278	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57291990	0.85[AMR][1000 genomes]
rs58671664	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61124312	0.85[AMR][1000 genomes]
rs61443428	1.00[AMR][1000 genomes]
rs61674975	1.00[AMR][1000 genomes]
rs73408118	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73408133	0.83[AMR][1000 genomes]
rs73881308	1.00[AMR][1000 genomes]
rs73881309	1.00[AMR][1000 genomes]
rs8138862	1.00[AMR][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:90 , 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	chr22:31518200-31519200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr22:31518200-31519200	Enhancers	Psoas Muscle	Psoas
5	chr22:31518200-31519400	Enhancers	Placenta	Placenta
6	chr22:31518200-31519800	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr22:31518200-31519800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr22:31518200-31520200	Enhancers	Fetal Brain Male	brain
9	chr22:31518400-31519400	Flanking Active TSS	Colonic Mucosa	Colon
10	chr22:31518400-31519600	Flanking Bivalent TSS/Enh	HepG2	liver
11	chr22:31518400-31520000	Flanking Active TSS	Hela-S3	cervix
12	chr22:31518600-31519200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr22:31518600-31519200	Flanking Active TSS	Brain Cingulate Gyrus	brain
14	chr22:31518600-31519200	Flanking Active TSS	Fetal Brain Female	brain
15	chr22:31518600-31519200	Enhancers	Ovary	ovary
16	chr22:31518600-31519200	Flanking Active TSS	HMEC	breast
17	chr22:31518600-31519400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr22:31518600-31519400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr22:31518600-31519400	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr22:31518600-31519600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr22:31518600-31519600	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr22:31518600-31519600	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr22:31518600-31519600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr22:31518600-31519600	Enhancers	Brain Substantia Nigra	brain
25	chr22:31518600-31519600	Flanking Active TSS	Fetal Intestine Small	intestine
26	chr22:31518600-31519600	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr22:31518600-31519600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr22:31518600-31519800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr22:31518600-31519800	Flanking Active TSS	Fetal Intestine Large	intestine
30	chr22:31518600-31519800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr22:31518600-31520000	Active TSS	Brain Hippocampus Middle	brain
32	chr22:31518800-31519200	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr22:31518800-31519200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr22:31518800-31519200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr22:31518800-31519200	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr22:31518800-31519200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr22:31518800-31519200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr22:31518800-31519200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr22:31518800-31519200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr22:31518800-31519200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr22:31518800-31519200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
42	chr22:31518800-31519200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr22:31518800-31519200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr22:31518800-31519200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr22:31518800-31519200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr22:31518800-31519200	Flanking Active TSS	Liver	Liver
47	chr22:31518800-31519200	Active TSS	Colon Smooth Muscle	Colon
48	chr22:31518800-31519200	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr22:31518800-31519200	Active TSS	Esophagus	oesophagus
50	chr22:31518800-31519200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

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