Variant report

Variant	rs6947955
Chromosome Location	chr7:48129939-48129940
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:48017568..48020341-chr7:48128356..48131105,2	MCF-7	breast:
2	chr7:48017535..48019169-chr7:48128413..48129998,2	K562	blood:

Variant related genes	Relation type
ENSG00000136273	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11975785	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132070	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1879832	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2056472	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2230761	1.00[EUR][1000 genomes]
rs2348664	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58352699	1.00[EUR][1000 genomes]
rs58646969	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58725335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6951116	1.00[EUR][1000 genomes]
rs73337874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337876	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73694335	0.86[EUR][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	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
3	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1027414	chr7:48117684-48438543	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv997355	chr7:48128431-48138826	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48127600-48130000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:48127600-48130200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr7:48127600-48130200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr7:48127600-48130200	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr7:48127600-48130400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:48127600-48130400	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr7:48127600-48130400	Active TSS	Rectal Smooth Muscle	rectum
8	chr7:48127600-48130600	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr7:48127800-48130200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:48127800-48130200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:48127800-48130200	Active TSS	Colon Smooth Muscle	Colon
12	chr7:48127800-48130200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr7:48127800-48130400	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr7:48127800-48130400	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr7:48127800-48130600	Active TSS	Psoas Muscle	Psoas
16	chr7:48128000-48130000	Active TSS	Left Ventricle	heart
17	chr7:48128000-48130000	Active TSS	A549	lung
18	chr7:48128000-48130000	Active TSS	HSMMtube	muscle
19	chr7:48128000-48130200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:48128000-48130200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:48128000-48130200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:48128000-48130200	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr7:48128000-48130200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:48128000-48130400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:48128000-48130600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:48128000-48131200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr7:48128200-48130000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:48128200-48130000	Active TSS	NHDF-Ad	bronchial
29	chr7:48128200-48130200	Active TSS	Liver	Liver
30	chr7:48128200-48130200	Active TSS	Fetal Kidney	kidney
31	chr7:48128200-48130400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:48128200-48130600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:48128400-48130000	Active TSS	Osteobl	bone
34	chr7:48128400-48130200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
35	chr7:48128600-48130000	Active TSS	Brain Cingulate Gyrus	brain
36	chr7:48128600-48130200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:48128600-48130200	Active TSS	HSMM	muscle
38	chr7:48128800-48130000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:48128800-48130400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:48129000-48130000	Bivalent/Poised TSS	Thymus	Thymus
41	chr7:48129000-48130200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr7:48129000-48130200	Active TSS	Right Atrium	heart
43	chr7:48129000-48130400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
44	chr7:48129000-48137000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:48129200-48130000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
46	chr7:48129200-48130000	Bivalent Enhancer	Fetal Brain Male	brain
47	chr7:48129200-48130000	Flanking Active TSS	Pancreas	Pancrea
48	chr7:48129400-48130000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:48129400-48130000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:48129400-48130000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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