Variant report

Variant	rs6949502
Chromosome Location	chr7:47824174-47824175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:47620215..47623501-chr7:47821573..47827272,7	MCF-7	breast:
2	chr7:47615873..47619377-chr7:47823257..47826592,4	MCF-7	breast:
3	chr7:47673413..47676550-chr7:47822059..47827530,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136205	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10951928	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10951929	0.92[ASN][1000 genomes]
rs11760448	0.92[ASN][1000 genomes]
rs11760486	0.92[ASN][1000 genomes]
rs12113948	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12669829	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12670494	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4273763	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4295570	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4341074	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4724641	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4724642	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949650	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950124	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6965904	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6970254	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970275	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised 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
3	nsv1018608	chr7:47708525-47831535	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1022906	chr7:47709936-47831535	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1015163	chr7:47734913-47832389	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv538831	chr7:47734913-47832389	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv830990	chr7:47767540-47837584	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47816200-47826000	Weak transcription	Right Atrium	heart
2	chr7:47817200-47846600	Weak transcription	Left Ventricle	heart
3	chr7:47817800-47824600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:47819000-47826600	Weak transcription	Small Intestine	intestine
5	chr7:47820000-47826000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr7:47821400-47827000	Enhancers	HSMMtube	muscle
7	chr7:47821400-47827600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr7:47821400-47827600	Enhancers	HSMM	muscle
9	chr7:47821600-47827200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:47821600-47827200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:47821600-47827200	Enhancers	Rectal Smooth Muscle	rectum
12	chr7:47821600-47827200	Enhancers	NHDF-Ad	bronchial
13	chr7:47821600-47827600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:47821600-47827600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:47821600-47827600	Enhancers	Osteobl	bone
16	chr7:47821600-47827800	Enhancers	HMEC	breast
17	chr7:47821800-47825800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:47822000-47824400	Weak transcription	Placenta	Placenta
19	chr7:47822000-47825000	Weak transcription	Aorta	Aorta
20	chr7:47822200-47827400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:47822400-47824600	Weak transcription	Fetal Kidney	kidney
22	chr7:47822400-47827600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:47823000-47827600	Enhancers	Fetal Stomach	stomach
24	chr7:47823200-47824200	Flanking Active TSS	A549	lung
25	chr7:47823200-47824400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:47823200-47824400	Enhancers	Fetal Muscle Trunk	muscle
27	chr7:47823200-47824800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr7:47823200-47827000	Enhancers	Fetal Muscle Leg	muscle
29	chr7:47823200-47827200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr7:47823400-47824200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:47823400-47824200	Weak transcription	Ovary	ovary
32	chr7:47823400-47824200	Flanking Active TSS	NHEK	skin
33	chr7:47823400-47824400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr7:47823400-47824600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:47823400-47825800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:47823400-47826000	Weak transcription	Pancreas	Pancrea
37	chr7:47823400-47827400	Enhancers	Stomach Smooth Muscle	stomach
38	chr7:47823400-47847200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr7:47823400-47849400	Weak transcription	Psoas Muscle	Psoas
40	chr7:47823400-47852200	Weak transcription	Right Ventricle	heart
41	chr7:47823600-47824600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr7:47823600-47824600	Weak transcription	Fetal Intestine Large	intestine
43	chr7:47823600-47824600	Weak transcription	Fetal Intestine Small	intestine
44	chr7:47823600-47825800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:47823600-47825800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:47823600-47825800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:47823600-47825800	Enhancers	Hela-S3	cervix
48	chr7:47823600-47826000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr7:47823600-47826200	Weak transcription	Fetal Lung	lung
50	chr7:47823600-47826600	Enhancers	NH-A	brain

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