Variant report

Variant	rs1636442
Chromosome Location	chr7:101331770-101331771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101330300..101332201-chr7:101453903..101456304,2	MCF-7	breast:
2	chr7:101331223..101332133-chr7:101458500..101459284,3	MCF-7	breast:
3	chr7:101331169..101333172-chr7:101342500..101345849,4	MCF-7	breast:
4	chr7:101330663..101332938-chr7:101456021..101458863,3	K562	blood:
5	chr7:101331353..101331858-chr7:101500393..101500972,2	MCF-7	breast:
6	chr7:101331189..101332041-chr7:101458655..101459223,2	NB4	blood:
7	chr7:101331341..101332151-chr7:101448037..101448804,2	MCF-7	breast:
8	chr7:101331022..101333643-chr7:101341514..101343495,2	MCF-7	breast:
9	chr7:101329586..101337237-chr7:101456658..101461622,22	MCF-7	breast:
10	chr7:101331319..101332632-chr7:101457135..101458012,7	MCF-7	breast:
11	chr7:101331265..101332297-chr7:101457072..101458122,8	K562	blood:
12	chr7:101330774..101332855-chr7:101456777..101459235,3	K562	blood:
13	chr7:101330630..101332814-chr7:101878417..101880968,2	K562	blood:
14	chr7:101330039..101336974-chr7:101455968..101461022,11	MCF-7	breast:
15	chr7:101331127..101332215-chr7:101458442..101459732,4	MCF-7	breast:
16	chr7:101331355..101332298-chr7:101457115..101458094,12	MCF-7	breast:
17	chr7:101245574..101246182-chr7:101331380..101332228,3	MCF-7	breast:
18	chr7:101331101..101332335-chr7:101879641..101880410,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10270145	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11771998	0.82[AMR][1000 genomes]
rs11772618	0.89[AMR][1000 genomes]
rs1636440	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1636441	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1636443	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1636447	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1722218	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1722224	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2529183	0.82[AMR][1000 genomes]
rs4276617	0.82[AMR][1000 genomes]
rs4436052	0.89[AMR][1000 genomes]
rs4535653	0.89[AMR][1000 genomes]
rs4602818	0.89[AMR][1000 genomes]
rs4642556	0.89[AMR][1000 genomes]
rs62463672	0.82[AMR][1000 genomes]
rs62463674	0.82[AMR][1000 genomes]
rs62463676	0.82[AMR][1000 genomes]
rs62466310	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62466312	0.89[AMR][1000 genomes]
rs62466345	0.89[AMR][1000 genomes]
rs62466346	0.89[AMR][1000 genomes]
rs62466347	0.89[AMR][1000 genomes]
rs62466348	0.89[AMR][1000 genomes]
rs62466349	0.82[AMR][1000 genomes]
rs62466350	0.89[AMR][1000 genomes]
rs62466351	0.89[AMR][1000 genomes]
rs62466354	0.89[AMR][1000 genomes]
rs62466355	0.82[AMR][1000 genomes]
rs62466356	0.82[AMR][1000 genomes]
rs62466357	0.89[AMR][1000 genomes]
rs62466358	0.89[AMR][1000 genomes]
rs62467460	0.89[AMR][1000 genomes]
rs62467463	0.89[AMR][1000 genomes]
rs62467464	0.89[AMR][1000 genomes]
rs62467465	0.89[AMR][1000 genomes]
rs62467466	0.89[AMR][1000 genomes]
rs62467468	0.89[AMR][1000 genomes]
rs62467469	0.89[AMR][1000 genomes]
rs757820	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs757821	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs757822	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7785622	0.89[AMR][1000 genomes]
rs7811421	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS 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 miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1018544	chr7:101225639-101424889	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv539045	chr7:101225639-101424889	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv482758	chr7:101231458-101395219	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv831079	chr7:101273495-101466776	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	esv3355104	chr7:101328432-101332730	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101330600-101333000	Enhancers	Spleen	Spleen
2	chr7:101331000-101332000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:101331200-101332200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:101331400-101331800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:101331400-101331800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:101331400-101331800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr7:101331400-101331800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr7:101331400-101331800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:101331400-101331800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr7:101331400-101331800	Bivalent Enhancer	Fetal Stomach	stomach
11	chr7:101331400-101331800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
12	chr7:101331400-101331800	Flanking Active TSS	GM12878-XiMat	blood
13	chr7:101331400-101331800	Flanking Active TSS	NHEK	skin
14	chr7:101331400-101331800	Flanking Active TSS	NHLF	lung
15	chr7:101331400-101331800	Active TSS	Osteobl	bone
16	chr7:101331400-101332000	Active TSS	H9 Cell Line	embryonic stem cell
17	chr7:101331400-101332000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr7:101331400-101332000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr7:101331400-101332000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:101331400-101332000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr7:101331400-101332000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:101331400-101332000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:101331400-101332000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr7:101331400-101332000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:101331400-101332000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:101331400-101332000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr7:101331400-101332000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr7:101331400-101332000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:101331400-101332000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:101331400-101332000	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr7:101331400-101332000	Enhancers	Fetal Heart	heart
32	chr7:101331400-101332000	Enhancers	Lung	lung
33	chr7:101331400-101332000	Active TSS	Rectal Smooth Muscle	rectum
34	chr7:101331400-101332000	Active TSS	A549	lung
35	chr7:101331400-101332000	Enhancers	HMEC	breast
36	chr7:101331400-101332000	Active TSS	HSMM	muscle
37	chr7:101331400-101332000	Active TSS	K562	blood
38	chr7:101331400-101332200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:101331400-101332200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:101331400-101332200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
41	chr7:101331400-101332200	Enhancers	Primary B cells from peripheral blood	blood
42	chr7:101331400-101332200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr7:101331400-101332200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr7:101331400-101332200	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr7:101331400-101332200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:101331400-101332200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:101331400-101332200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:101331400-101332200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr7:101331400-101332200	Enhancers	Colon Smooth Muscle	Colon
50	chr7:101331400-101332200	Enhancers	Esophagus	oesophagus

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