Variant report

Variant	rs7808129
Chromosome Location	chr7:116569412-116569413
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:116569154..116573118-chr7:116592518..116595104,9	MCF-7	breast:
2	chr7:116569093..116573225-chr7:116592050..116596557,6	K562	blood:
3	chr7:116562487..116565467-chr7:116567653..116570595,2	MCF-7	breast:
4	7:115847372-115857098..7:116568602-116574330	GM12878	blood:
5	chr7:116567075..116568820-chr7:116569252..116572115,2	MCF-7	breast:
6	chr7:116557404..116561072-chr7:116567108..116571328,4	K562	blood:
7	chr7:116569093..116572141-chr7:116765850..116768047,3	K562	blood:
8	7:116568602-116574330..7:116957165-116964911	H1-hESC	embryonic stem cell:	embryo
9	chr7:116563032..116565216-chr7:116567059..116570510,3	K562	blood:
10	7:116568602-116574330..7:116754962-116765597	GM12878	blood:
11	7:116568602-116574330..7:116651084-116657331	GM12878	blood:
12	7:116568602-116574330..7:116728195-116740907	GM12878	blood:

No data

Variant related genes	Relation type
ENSG00000227199	Chromatin interaction
ENSG00000135269	Chromatin interaction
ENSG00000214188	Chromatin interaction
ENSG00000105989	Chromatin interaction
ENSG00000226367	Chromatin interaction
ENSG00000004866	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10487354	0.90[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10487355	0.90[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs10487356	0.82[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10953829	0.85[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10953830	0.90[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12533164	0.86[CHB][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12533755	0.86[CHB][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12665952	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12669383	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12670056	0.90[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12670264	0.86[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12671828	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12672008	0.90[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12673979	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12674017	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12706108	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12706109	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12706110	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12706112	0.83[EUR][1000 genomes]
rs12706115	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12706120	0.84[ASN][1000 genomes]
rs12706121	0.90[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12706122	0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12706123	0.89[CEU][hapmap];0.97[EUR][1000 genomes]
rs13224082	0.81[EUR][1000 genomes]
rs13228847	0.82[EUR][1000 genomes]
rs13239000	0.86[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2237720	0.83[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2299441	0.80[EUR][1000 genomes]
rs2301649	0.90[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3173936	0.86[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3807999	0.81[EUR][1000 genomes]
rs4808	0.90[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9791492	0.86[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9791721	0.90[CHB][hapmap];0.87[JPT][hapmap];0.82[EUR][1000 genomes];0.80[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	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv889074	chr7:116552859-116604194	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv889075	chr7:116552859-116610237	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv889073	chr7:116552859-116611113	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116544400-116570600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:116552000-116570600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:116553200-116570600	Weak transcription	Brain Substantia Nigra	brain
4	chr7:116555400-116570400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:116556800-116570600	Weak transcription	Aorta	Aorta
6	chr7:116557000-116570800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:116557000-116570800	Weak transcription	NHEK	skin
8	chr7:116558000-116570600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr7:116558000-116570600	Weak transcription	Lung	lung
10	chr7:116558000-116570800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:116558200-116570400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:116558200-116570400	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:116558200-116570600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr7:116558200-116570800	Weak transcription	HMEC	breast
15	chr7:116558400-116570600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr7:116558400-116570600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:116558400-116570600	Weak transcription	Brain Anterior Caudate	brain
18	chr7:116558400-116570800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:116558600-116570400	Weak transcription	Fetal Lung	lung
20	chr7:116558600-116570600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:116558800-116570400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:116558800-116570400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr7:116559000-116570200	Weak transcription	Placenta	Placenta
24	chr7:116559000-116570400	Weak transcription	Dnd41	blood
25	chr7:116559000-116570400	Weak transcription	Hela-S3	cervix
26	chr7:116559200-116570600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:116559200-116570600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:116559200-116570600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr7:116559200-116576000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:116559600-116570400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr7:116559600-116570400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr7:116559600-116570600	Weak transcription	GM12878-XiMat	blood
33	chr7:116559600-116570800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr7:116559600-116570800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:116559600-116570800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr7:116560800-116570600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr7:116560800-116570600	Weak transcription	Liver	Liver
38	chr7:116561000-116570200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:116561000-116570400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:116561200-116570400	Weak transcription	A549	lung
41	chr7:116561200-116570600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr7:116561200-116570600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr7:116561400-116570000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:116562400-116570600	Weak transcription	HUVEC	blood vessel
45	chr7:116562600-116570600	Weak transcription	Fetal Intestine Small	intestine
46	chr7:116567800-116570000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr7:116568400-116569600	Enhancers	Fetal Brain Female	brain
48	chr7:116568400-116570200	Enhancers	HepG2	liver
49	chr7:116568600-116571400	Enhancers	Fetal Brain Male	brain
50	chr7:116569000-116570600	Weak transcription	Fetal Heart	heart

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