Variant report

Variant	rs1871214
Chromosome Location	chr7:137652622-137652623
allele	A/C
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:137650809..137652670-chr7:137683631..137686274,2	K562	blood:
2	chr7:137619156..137621856-chr7:137650615..137653310,2	MCF-7	breast:
3	chr7:137650405..137652234-chr7:137652303..137653977,2	K562	blood:
4	chr7:137652166..137654948-chr7:137667610..137670033,2	K562	blood:
5	chr7:137652427..137654026-chr7:137674735..137676938,2	K562	blood:
6	chr7:137650568..137655149-chr7:137681332..137686254,5	K562	blood:
7	chr7:137634525..137637267-chr7:137652549..137655097,2	MCF-7	breast:
8	chr7:137650743..137652751-chr7:137656187..137658700,3	K562	blood:

No data

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10243295	1.00[TSI][hapmap]
rs10261211	1.00[TSI][hapmap]
rs10272404	1.00[MEX][hapmap]
rs11763953	1.00[CEU][hapmap]
rs11773019	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11978173	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs17169449	0.82[CEU][hapmap]
rs3735019	1.00[TSI][hapmap]
rs57351134	1.00[EUR][1000 genomes]
rs57409151	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59321723	1.00[EUR][1000 genomes]
rs60947467	1.00[EUR][1000 genomes]
rs61424261	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6958842	1.00[TSI][hapmap]
rs6960308	1.00[TSI][hapmap]
rs6960313	1.00[TSI][hapmap]
rs6980335	1.00[TSI][hapmap]
rs724064	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs73458446	1.00[EUR][1000 genomes]
rs7788967	1.00[TSI][hapmap]
rs7808800	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9986783	1.00[EUR][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	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137635200-137663400	Weak transcription	Primary B cells from cord blood	blood
2	chr7:137639000-137654800	Weak transcription	Brain Angular Gyrus	brain
3	chr7:137639400-137655000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:137640000-137654600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:137643800-137654800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:137644000-137655400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr7:137644200-137653400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:137646600-137657600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr7:137647600-137653600	Enhancers	Placenta	Placenta
10	chr7:137648800-137653400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr7:137649800-137653000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:137649800-137658000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:137650200-137652800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr7:137650200-137654800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:137650200-137660200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr7:137650400-137653000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:137650400-137653000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:137650400-137653000	Enhancers	Right Atrium	heart
19	chr7:137650400-137653600	Enhancers	Ovary	ovary
20	chr7:137650600-137652800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr7:137650600-137652800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr7:137650600-137653200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:137650600-137653400	Enhancers	Pancreas	Pancrea
24	chr7:137650600-137656400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:137650800-137652800	Enhancers	Brain Anterior Caudate	brain
26	chr7:137650800-137653000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr7:137650800-137653600	Enhancers	Osteobl	bone
28	chr7:137651000-137653000	Enhancers	A549	lung
29	chr7:137651200-137652800	Enhancers	Brain Substantia Nigra	brain
30	chr7:137651200-137653600	Enhancers	Aorta	Aorta
31	chr7:137651200-137656400	Enhancers	NH-A	brain
32	chr7:137651400-137652800	Enhancers	Esophagus	oesophagus
33	chr7:137651400-137653000	Enhancers	Fetal Muscle Leg	muscle
34	chr7:137651400-137653000	Enhancers	HSMM	muscle
35	chr7:137651400-137653600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:137651400-137675200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr7:137651600-137652800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr7:137651600-137652800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:137651600-137652800	Enhancers	Right Ventricle	heart
40	chr7:137651600-137653000	Enhancers	Fetal Heart	heart
41	chr7:137651600-137653000	Enhancers	Fetal Intestine Small	intestine
42	chr7:137651600-137653200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:137651600-137653200	Enhancers	Colon Smooth Muscle	Colon
44	chr7:137651600-137653200	Enhancers	Duodenum Mucosa	Duodenum
45	chr7:137651600-137653800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:137651600-137654800	Enhancers	NHDF-Ad	bronchial
47	chr7:137651800-137652800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr7:137651800-137652800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr7:137651800-137652800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr7:137651800-137652800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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