Variant report

Variant	rs17496261
Chromosome Location	chr7:40027215-40027216
allele	A/G
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	GATA3	chr7:40027106-40027428	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39989010..39992398-chr7:40024722..40029040,5	MCF-7	breast:
2	chr7:40025445..40027288-chr7:40029164..40032016,2	K562	blood:

Variant related genes	Relation type
CDK13	TF binding region
ENSG00000259826	Chromatin interaction
ENSG00000065883	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13309988	1.00[CHD][hapmap]
rs17171639	1.00[CHD][hapmap]
rs17496712	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs3801237	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv521293	chr7:40021044-40027484	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv518849	chr7:40021044-40030488	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	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
10	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

No data

Chromatin state (count:123 , 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	chr7:39997800-40027400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:40006800-40031200	Weak transcription	Fetal Stomach	stomach
5	chr7:40009400-40027400	Weak transcription	Osteobl	bone
6	chr7:40009600-40027400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:40011400-40027400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr7:40017400-40027400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:40017800-40027400	Weak transcription	Liver	Liver
10	chr7:40018400-40027400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:40018600-40047800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:40018800-40027400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr7:40019600-40027400	Weak transcription	Placenta	Placenta
14	chr7:40019600-40029400	Weak transcription	Right Atrium	heart
15	chr7:40020000-40037400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:40020400-40027400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:40020400-40077600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:40022200-40027400	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:40022800-40027400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr7:40022800-40027600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr7:40023000-40028000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:40023400-40046800	Weak transcription	HMEC	breast
23	chr7:40023600-40027400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:40023800-40043200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:40024000-40027400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:40024400-40028200	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr7:40024600-40027400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr7:40025000-40027400	Weak transcription	NHDF-Ad	bronchial
29	chr7:40025000-40027800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr7:40025000-40031400	Weak transcription	Fetal Intestine Small	intestine
31	chr7:40025400-40027400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:40025400-40027400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:40025400-40033200	Weak transcription	NHLF	lung
34	chr7:40025600-40027400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr7:40025600-40027400	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr7:40025600-40027400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr7:40025600-40027400	Weak transcription	HSMMtube	muscle
38	chr7:40025600-40027400	Weak transcription	HUVEC	blood vessel
39	chr7:40025600-40027600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:40025600-40027600	Weak transcription	NH-A	brain
41	chr7:40025600-40031000	Weak transcription	Fetal Brain Male	brain
42	chr7:40025600-40031400	Weak transcription	Ovary	ovary
43	chr7:40025600-40031400	Weak transcription	Psoas Muscle	Psoas
44	chr7:40025600-40035600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:40025600-40037200	Weak transcription	Fetal Lung	lung
46	chr7:40025600-40042600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr7:40025600-40046800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:40025600-40055400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr7:40025800-40027400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:40025800-40027400	Weak transcription	Adipose Nuclei	Adipose

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