Variant report

Variant	rs2964949
Chromosome Location	chr7:47517846-47517847
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:47511004..47513393-chr7:47517633..47520191,2	MCF-7	breast:
2	chr7:47516756..47518483-chr7:47673724..47676288,2	MCF-7	breast:
3	chr7:47514022..47520135-chr7:47620421..47623304,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136205	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17172883	1.00[AMR][1000 genomes]
rs2964947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73334685	1.00[AMR][1000 genomes]
rs7804596	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3438007	chr7:47516227-47520525	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47480400-47534000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:47511800-47522000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:47512800-47530000	Enhancers	Placenta	Placenta
4	chr7:47513000-47521000	Enhancers	Fetal Heart	heart
5	chr7:47513600-47519000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr7:47513600-47522600	Enhancers	Ovary	ovary
7	chr7:47513600-47523000	Enhancers	Adipose Nuclei	Adipose
8	chr7:47513600-47526400	Enhancers	Liver	Liver
9	chr7:47513800-47518000	Enhancers	Right Atrium	heart
10	chr7:47513800-47519000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr7:47513800-47522600	Enhancers	Small Intestine	intestine
12	chr7:47513800-47522600	Enhancers	Spleen	Spleen
13	chr7:47513800-47526200	Enhancers	Right Ventricle	heart
14	chr7:47514000-47526000	Enhancers	Left Ventricle	heart
15	chr7:47514200-47519600	Weak transcription	Fetal Brain Male	brain
16	chr7:47514200-47519800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:47514200-47521200	Enhancers	Osteobl	bone
18	chr7:47514200-47524200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:47514400-47524800	Enhancers	Primary hematopoietic stem cells	blood
20	chr7:47514800-47518000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:47514800-47519800	Enhancers	Fetal Lung	lung
22	chr7:47514800-47528400	Enhancers	Stomach Mucosa	stomach
23	chr7:47514800-47528800	Enhancers	Pancreas	Pancrea
24	chr7:47515000-47529800	Genic enhancers	Fetal Intestine Small	intestine
25	chr7:47515200-47518000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr7:47515400-47518400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:47515400-47518800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:47515400-47519800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:47515400-47520000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr7:47515400-47520000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:47515400-47520400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:47515400-47522000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr7:47515600-47518200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:47515600-47518200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr7:47515600-47518600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr7:47515600-47520600	Weak transcription	HUVEC	blood vessel
37	chr7:47515600-47520800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:47515800-47519800	Weak transcription	Colon Smooth Muscle	Colon
39	chr7:47515800-47520400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:47515800-47520600	Genic enhancers	Fetal Intestine Large	intestine
41	chr7:47515800-47521000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:47515800-47521400	Enhancers	Stomach Smooth Muscle	stomach
43	chr7:47515800-47533600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:47516000-47520600	Weak transcription	HMEC	breast
45	chr7:47516000-47538400	Genic enhancers	A549	lung
46	chr7:47516200-47519800	Enhancers	Duodenum Mucosa	Duodenum
47	chr7:47516200-47519800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr7:47516200-47521000	Weak transcription	Hela-S3	cervix
49	chr7:47516600-47518000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:47516600-47518000	Enhancers	Rectal Mucosa Donor 29	rectum

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