Variant report

Variant	rs17537887
Chromosome Location	chr7:40040336-40040337
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:39988882..39991588-chr7:40039057..40040636,2	K562	blood:
2	chr7:40038956..40041383-chr7:40052873..40055589,2	K562	blood:
3	chr7:40038038..40041383-chr7:40051581..40055589,3	K562	blood:

Variant related genes	Relation type
ENSG00000065883	Chromatin interaction
ENSG00000259826	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17171650	1.00[EUR][1000 genomes]
rs17496240	1.00[EUR][1000 genomes]
rs17496254	1.00[EUR][1000 genomes]
rs17537775	1.00[EUR][1000 genomes]
rs17537936	1.00[EUR][1000 genomes]
rs17537957	1.00[EUR][1000 genomes]
rs17538034	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17538139	1.00[EUR][1000 genomes]
rs17538293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1973397	1.00[EUR][1000 genomes]
rs57602515	1.00[EUR][1000 genomes]
rs57832352	1.00[EUR][1000 genomes]
rs57938128	1.00[EUR][1000 genomes]
rs60166394	1.00[EUR][1000 genomes]
rs60489461	1.00[EUR][1000 genomes]
rs6952564	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6975868	1.00[EUR][1000 genomes]
rs6977290	1.00[EUR][1000 genomes]
rs7797651	1.00[EUR][1000 genomes]
rs7797841	1.00[EUR][1000 genomes]
rs7809041	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv1015322	chr7:40006195-40141195	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv2761319	chr7:40006195-40142139	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv464436	chr7:40018693-40133044	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv606706	chr7:40018693-40133044	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv606707	chr7:40021044-40133044	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv606708	chr7:40021044-40157040	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv887978	chr7:40030488-40124137	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39993600-40048200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:39995200-40042600	Weak transcription	K562	blood
3	chr7:40018600-40047800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:40020400-40077600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:40023400-40046800	Weak transcription	HMEC	breast
6	chr7:40023800-40043200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:40025600-40042600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:40025600-40046800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:40025600-40055400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:40025800-40043200	Weak transcription	Left Ventricle	heart
11	chr7:40025800-40054800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr7:40025800-40055400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr7:40025800-40055400	Weak transcription	Fetal Heart	heart
14	chr7:40025800-40055400	Weak transcription	Stomach Mucosa	stomach
15	chr7:40025800-40059600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:40025800-40062800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:40025800-40082200	Weak transcription	Spleen	Spleen
18	chr7:40026000-40071200	Weak transcription	Brain Germinal Matrix	brain
19	chr7:40026600-40096800	Weak transcription	Right Ventricle	heart
20	chr7:40027400-40045400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:40027600-40042000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:40027600-40042400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:40027600-40042400	Weak transcription	Esophagus	oesophagus
24	chr7:40027600-40043200	Weak transcription	Pancreas	Pancrea
25	chr7:40027800-40042200	Weak transcription	Osteobl	bone
26	chr7:40027800-40047400	Weak transcription	Fetal Kidney	kidney
27	chr7:40027800-40047600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr7:40027800-40047800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:40027800-40048400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr7:40027800-40049600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:40027800-40053800	Weak transcription	HepG2	liver
32	chr7:40027800-40054800	Weak transcription	Aorta	Aorta
33	chr7:40027800-40055400	Weak transcription	Fetal Brain Female	brain
34	chr7:40028000-40042400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:40028000-40042400	Weak transcription	Fetal Intestine Large	intestine
36	chr7:40028000-40042800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr7:40028000-40043000	Weak transcription	NHEK	skin
38	chr7:40028000-40047400	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:40028000-40047400	Weak transcription	HSMMtube	muscle
40	chr7:40028000-40047800	Weak transcription	NH-A	brain
41	chr7:40028000-40077800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr7:40028000-40127800	Weak transcription	Colonic Mucosa	Colon
43	chr7:40028200-40041200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr7:40028200-40041400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:40028200-40041400	Weak transcription	A549	lung
46	chr7:40028200-40042400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr7:40028200-40047400	Weak transcription	Hela-S3	cervix
48	chr7:40028200-40047800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr7:40028200-40048000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr7:40028200-40073000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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