Variant report

Variant	rs17137480
Chromosome Location	chr7:7805461-7805462
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7799254..7806715-chr7:8006933..8010615,16	MCF-7	breast:
2	chr7:7800187..7801769-chr7:7805082..7806731,2	MCF-7	breast:
3	chr7:7801447..7806278-chr7:7806624..7810119,5	K562	blood:
4	chr7:7804210..7807179-chr7:7808630..7811509,2	MCF-7	breast:
5	chr7:7804416..7806243-chr7:7949004..7951328,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106415	Chromatin interaction
ENSG00000214998	Chromatin interaction
ENSG00000233108	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11984316	1.00[CHB][hapmap]
rs12112667	1.00[CHB][hapmap]
rs17137412	1.00[JPT][hapmap]
rs17482123	1.00[CHB][hapmap]
rs2110553	1.00[CHB][hapmap]
rs4725015	1.00[CHB][hapmap]
rs4725024	1.00[CHB][hapmap]
rs717297	1.00[CHB][hapmap]
rs73344540	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7456324	1.00[CHB][hapmap]
rs7777879	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv887480	chr7:7681131-7917360	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv887485	chr7:7692483-7917360	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv1026564	chr7:7734846-7897847	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv887489	chr7:7770203-7913311	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1027770	chr7:7797431-7957507	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv538722	chr7:7797431-7957507	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv887490	chr7:7801684-7908970	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7802200-7809400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:7802400-7805800	Enhancers	Primary T cells from cord blood	blood
3	chr7:7802400-7805800	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr7:7802400-7806200	Enhancers	Stomach Mucosa	stomach
5	chr7:7802400-7807200	Weak transcription	Fetal Stomach	stomach
6	chr7:7802400-7808000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:7802400-7808000	Weak transcription	Psoas Muscle	Psoas
8	chr7:7802400-7809200	Weak transcription	Gastric	stomach
9	chr7:7802400-7812000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:7802400-7812000	Weak transcription	Brain Substantia Nigra	brain
11	chr7:7802400-7812200	Weak transcription	Small Intestine	intestine
12	chr7:7802400-7829800	Weak transcription	Left Ventricle	heart
13	chr7:7802400-7841400	Weak transcription	Ovary	ovary
14	chr7:7802600-7805600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr7:7802600-7805800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr7:7802600-7807400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:7802600-7808000	Enhancers	Hela-S3	cervix
18	chr7:7802600-7808000	Weak transcription	HSMM	muscle
19	chr7:7802600-7809400	Weak transcription	Osteobl	bone
20	chr7:7802600-7809800	Weak transcription	NHLF	lung
21	chr7:7802600-7811200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:7802600-7811800	Weak transcription	Brain Anterior Caudate	brain
23	chr7:7802600-7812200	Weak transcription	Adipose Nuclei	Adipose
24	chr7:7802600-7836600	Weak transcription	Aorta	Aorta
25	chr7:7803200-7807800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:7803200-7807800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:7803600-7806400	Enhancers	A549	lung
28	chr7:7803800-7805800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:7803800-7807200	Weak transcription	Brain Germinal Matrix	brain
30	chr7:7804200-7805800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:7804200-7806800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr7:7804400-7805600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:7804400-7805600	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr7:7804400-7805800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:7804600-7807400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:7804600-7808000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:7804600-7811800	Weak transcription	Colon Smooth Muscle	Colon
38	chr7:7804800-7805800	Enhancers	GM12878-XiMat	blood
39	chr7:7804800-7805800	Enhancers	NHEK	skin
40	chr7:7804800-7807200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr7:7804800-7811600	Weak transcription	Primary B cells from cord blood	blood
42	chr7:7805000-7807400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr7:7805000-7811000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr7:7805000-7811000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:7805400-7805800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr7:7805400-7807400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr7:7805400-7810800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:7805400-7810800	Weak transcription	Thymus	Thymus
49	chr7:7805400-7810800	Weak transcription	HMEC	breast
50	chr7:7805400-7811200	Weak transcription	Fetal Thymus	thymus

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