Variant report

Variant	rs7100978
Chromosome Location	chr10:43635474-43635475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43632409..43636039-chr10:43698014..43700588,4	K562	blood:
2	chr10:43632409..43636039-chr10:43698014..43700588,6	K562	blood:
3	chr10:43634643..43637619-chr10:43638128..43641213,3	K562	blood:

Variant related genes	Relation type
ENSG00000198915	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2249000	1.00[AMR][1000 genomes]
rs2252458	1.00[AMR][1000 genomes]
rs2460564	1.00[AMR][1000 genomes]
rs74135436	1.00[AMR][1000 genomes]
rs74135437	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv1038102	chr10:43441601-43642908	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv895082	chr10:43530071-43755506	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv895083	chr10:43549708-43765485	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1051701	chr10:43555542-43642895	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv1046892	chr10:43609488-43636278	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv916378	chr10:43622151-43868356	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv1042310	chr10:43623060-43688505	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43632200-43635600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr10:43632200-43635600	Active TSS	HSMMtube	muscle
3	chr10:43632600-43635600	Active TSS	Rectal Smooth Muscle	rectum
4	chr10:43632600-43635600	Active TSS	NHLF	lung
5	chr10:43632600-43636200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr10:43632800-43636200	Active TSS	Muscle Satellite Cultured Cells	--
7	chr10:43632800-43636200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr10:43632800-43636400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr10:43634400-43635800	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr10:43634400-43636000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr10:43634400-43636600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:43634400-43636600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:43634600-43635600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr10:43634600-43635600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr10:43634600-43635800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr10:43634600-43635800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr10:43634600-43636000	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr10:43634600-43636000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr10:43634600-43636600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr10:43634600-43636800	Enhancers	Small Intestine	intestine
21	chr10:43634600-43637200	Weak transcription	Spleen	Spleen
22	chr10:43634600-43637800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr10:43634800-43635600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr10:43634800-43635600	Enhancers	Pancreas	Pancrea
25	chr10:43634800-43635800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:43634800-43635800	Flanking Active TSS	HUVEC	blood vessel
27	chr10:43634800-43635800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr10:43634800-43636000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr10:43634800-43636400	Enhancers	Hela-S3	cervix
30	chr10:43634800-43636600	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr10:43634800-43636600	Flanking Active TSS	Dnd41	blood
32	chr10:43634800-43641000	Weak transcription	Stomach Mucosa	stomach
33	chr10:43634800-43646800	Weak transcription	Left Ventricle	heart
34	chr10:43634800-43652200	Weak transcription	Gastric	stomach
35	chr10:43635000-43635600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr10:43635000-43635600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr10:43635000-43635600	Enhancers	Liver	Liver
38	chr10:43635000-43635600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr10:43635000-43635600	Enhancers	Fetal Muscle Trunk	muscle
40	chr10:43635000-43635600	Enhancers	Fetal Muscle Leg	muscle
41	chr10:43635000-43635600	Enhancers	Lung	lung
42	chr10:43635000-43635800	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr10:43635000-43636400	Enhancers	Fetal Lung	lung
44	chr10:43635000-43636400	Flanking Active TSS	NHDF-Ad	bronchial
45	chr10:43635000-43636600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr10:43635000-43636600	Flanking Active TSS	GM12878-XiMat	blood
47	chr10:43635000-43637600	Enhancers	Primary B cells from peripheral blood	blood
48	chr10:43635000-43638000	Enhancers	Primary T cells fromperipheralblood	blood
49	chr10:43635000-43639000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr10:43635000-43639600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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