Variant report

Variant	rs808913
Chromosome Location	chr7:40031871-40031872
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:39987287..39990526-chr7:40030076..40032814,4	MCF-7	breast:
2	chr7:40025445..40027288-chr7:40029164..40032016,2	K562	blood:
3	chr7:40031268..40032823-chr7:40035953..40037510,2	MCF-7	breast:
4	chr7:40030873..40032517-chr7:40032744..40035272,2	MCF-7	breast:
5	chr7:39988482..39990728-chr7:40029986..40032615,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259826	Chromatin interaction
ENSG00000065883	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1082021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082027	1.00[AMR][1000 genomes]
rs1082033	1.00[AMR][1000 genomes]
rs12113257	1.00[AMR][1000 genomes]
rs12113345	1.00[AMR][1000 genomes]
rs1257697	1.00[AMR][1000 genomes]
rs1257711	1.00[AMR][1000 genomes]
rs1314087	1.00[AMR][1000 genomes]
rs1829909	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55825872	1.00[AMR][1000 genomes]
rs55913371	1.00[AMR][1000 genomes]
rs56684313	1.00[AMR][1000 genomes]
rs58681548	1.00[AMR][1000 genomes]
rs73687511	1.00[AMR][1000 genomes]
rs73687519	1.00[AMR][1000 genomes]
rs73687565	1.00[AMR][1000 genomes]
rs773380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773394	1.00[AMR][1000 genomes]
rs773396	1.00[AMR][1000 genomes]
rs773400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773401	1.00[AMR][1000 genomes]
rs773404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773408	1.00[AMR][1000 genomes]
rs773416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773418	1.00[AMR][1000 genomes]
rs773419	1.00[AMR][1000 genomes]
rs773420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs773423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9942572	1.00[AMR][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:115 , 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	chr7:40020000-40037400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr7:40020400-40077600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:40023400-40046800	Weak transcription	HMEC	breast
7	chr7:40023800-40043200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:40025400-40033200	Weak transcription	NHLF	lung
9	chr7:40025600-40035600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:40025600-40037200	Weak transcription	Fetal Lung	lung
11	chr7:40025600-40042600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:40025600-40046800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:40025600-40055400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr7:40025800-40035000	Weak transcription	GM12878-XiMat	blood
15	chr7:40025800-40039600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:40025800-40043200	Weak transcription	Left Ventricle	heart
17	chr7:40025800-40054800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr7:40025800-40055400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr7:40025800-40055400	Weak transcription	Fetal Heart	heart
20	chr7:40025800-40055400	Weak transcription	Stomach Mucosa	stomach
21	chr7:40025800-40059600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:40025800-40062800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:40025800-40082200	Weak transcription	Spleen	Spleen
24	chr7:40026000-40071200	Weak transcription	Brain Germinal Matrix	brain
25	chr7:40026400-40036800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr7:40026600-40096800	Weak transcription	Right Ventricle	heart
27	chr7:40026800-40032200	Strong transcription	Primary B cells from cord blood	blood
28	chr7:40026800-40032200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:40026800-40032800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:40027200-40032200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:40027400-40032600	Weak transcription	Colon Smooth Muscle	Colon
32	chr7:40027400-40045400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:40027600-40032200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:40027600-40042000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:40027600-40042400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:40027600-40042400	Weak transcription	Esophagus	oesophagus
37	chr7:40027600-40043200	Weak transcription	Pancreas	Pancrea
38	chr7:40027800-40033000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr7:40027800-40042200	Weak transcription	Osteobl	bone
40	chr7:40027800-40047400	Weak transcription	Fetal Kidney	kidney
41	chr7:40027800-40047600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:40027800-40047800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr7:40027800-40048400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr7:40027800-40049600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr7:40027800-40053800	Weak transcription	HepG2	liver
46	chr7:40027800-40054800	Weak transcription	Aorta	Aorta
47	chr7:40027800-40055400	Weak transcription	Fetal Brain Female	brain
48	chr7:40028000-40032400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:40028000-40032400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr7:40028000-40032400	Weak transcription	Brain Anterior Caudate	brain

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