Variant report

Variant	rs37949
Chromosome Location	chr7:7996282-7996283
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7993781..7999497-chr7:8006665..8011144,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106415	Chromatin interaction
ENSG00000233108	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17140477	0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs17140554	0.87[ASN][1000 genomes]
rs17140599	0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs17151593	0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs2041363	0.87[ASN][1000 genomes]
rs34095744	0.98[ASN][1000 genomes]
rs34819831	0.88[ASN][1000 genomes]
rs37950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58586931	0.91[ASN][1000 genomes]
rs66702154	0.87[ASN][1000 genomes]
rs67510479	0.86[ASN][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	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	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
3	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
4	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv1030180	chr7:7860424-8059221	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv3346837	chr7:7915187-8068557	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1020161	chr7:7929384-8047553	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv525502	chr7:7938596-7996590	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv606048	chr7:7938596-7996590	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7984800-7996800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:7985000-8003800	Weak transcription	Primary B cells from cord blood	blood
3	chr7:7985400-8007600	Weak transcription	Psoas Muscle	Psoas
4	chr7:7986800-8007800	Weak transcription	Ovary	ovary
5	chr7:7993000-7997800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:7993200-7997800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:7994000-7996800	Enhancers	NHDF-Ad	bronchial
8	chr7:7994000-7997200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:7994200-7997400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:7994200-7998400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:7994600-7996400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:7994600-7997200	Weak transcription	Fetal Intestine Large	intestine
13	chr7:7995000-7997600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr7:7995200-7996400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:7995200-7996600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:7995400-7996800	Enhancers	NH-A	brain
17	chr7:7995600-7996600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:7995600-7996800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:7995600-7996800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:7995600-7996800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:7995600-7996800	Enhancers	Osteobl	bone
22	chr7:7995600-7997000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:7995600-7997200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:7995800-7996600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:7995800-7996800	Enhancers	NHLF	lung
26	chr7:7995800-7997400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:7995800-7997400	Enhancers	Stomach Mucosa	stomach
28	chr7:7995800-7997400	Enhancers	Hela-S3	cervix
29	chr7:7996000-7996800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:7996000-7996800	Enhancers	HSMM	muscle
31	chr7:7996000-7997000	Weak transcription	Fetal Lung	lung
32	chr7:7996000-7997200	Enhancers	HMEC	breast
33	chr7:7996000-7997200	Enhancers	NHEK	skin
34	chr7:7996200-7997000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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