Variant report

Variant	rs10952639
Chromosome Location	chr7:140027122-140027123
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139758879..139760781-chr7:140025827..140028156,2	K562	blood:
2	chr7:139929869..139932027-chr7:140025336..140027515,3	MCF-7	breast:
3	chr7:140024572..140026122-chr7:140027015..140029639,2	K562	blood:
4	chr7:139875688..139878782-chr7:140020537..140027140,7	K562	blood:
5	chr7:140024916..140027848-chr7:140096767..140099113,2	K562	blood:

Variant related genes	Relation type
ENSG00000260231	Chromatin interaction
ENSG00000157800	Chromatin interaction
ENSG00000006459	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10952635	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12669023	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12703744	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4476922	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4513893	0.84[ASN][1000 genomes]
rs7800262	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889247	chr7:139855216-140033631	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1026255	chr7:139944473-140043299	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140016200-140034000	Weak transcription	Pancreas	Pancrea
2	chr7:140016800-140034200	Weak transcription	Small Intestine	intestine
3	chr7:140017000-140033200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:140017200-140032800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:140017600-140033600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:140017600-140034000	Weak transcription	HMEC	breast
7	chr7:140022800-140030400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:140023800-140033800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:140024000-140048800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:140026000-140033800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:140026000-140033800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:140026000-140034400	Weak transcription	Gastric	stomach
13	chr7:140026000-140040800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:140026000-140040800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:140026200-140027200	Weak transcription	Fetal Intestine Small	intestine
16	chr7:140026200-140027800	Enhancers	Duodenum Mucosa	Duodenum
17	chr7:140026200-140027800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr7:140026200-140030000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:140026200-140030600	Weak transcription	Brain Germinal Matrix	brain
20	chr7:140026200-140031600	Weak transcription	Fetal Stomach	stomach
21	chr7:140026200-140032800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:140026200-140032800	Weak transcription	Esophagus	oesophagus
23	chr7:140026200-140033000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr7:140026200-140033200	Weak transcription	Primary B cells from cord blood	blood
25	chr7:140026200-140033200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr7:140026200-140033200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:140026200-140033200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:140026200-140033200	Weak transcription	Fetal Intestine Large	intestine
29	chr7:140026200-140033200	Weak transcription	HSMMtube	muscle
30	chr7:140026200-140033400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:140026200-140033400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:140026200-140033400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr7:140026200-140033600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:140026200-140033800	Weak transcription	Placenta	Placenta
35	chr7:140026200-140034000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr7:140026200-140034000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr7:140026200-140034000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:140026200-140034000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr7:140026200-140034000	Weak transcription	Fetal Kidney	kidney
40	chr7:140026200-140034000	Weak transcription	Right Ventricle	heart
41	chr7:140026200-140034000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr7:140026200-140034000	Weak transcription	Spleen	Spleen
43	chr7:140026200-140034000	Weak transcription	Dnd41	blood
44	chr7:140026200-140034000	Weak transcription	NHLF	lung
45	chr7:140026200-140034200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr7:140026200-140034200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr7:140026200-140034400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:140026200-140034400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr7:140026200-140034400	Weak transcription	Hela-S3	cervix
50	chr7:140026200-140034600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links