Variant report

Variant	rs2712213
Chromosome Location	chr7:107187774-107187775
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:107182408..107183981-chr7:107186639..107188614,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1015410	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1018869	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1024401	0.94[EUR][1000 genomes]
rs10244871	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10245210	0.85[EUR][1000 genomes]
rs10267978	0.95[EUR][1000 genomes]
rs10276321	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10953538	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12532304	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1468335	0.96[EUR][1000 genomes]
rs1858889	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2250410	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2253856	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2283042	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2520257	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2520258	0.95[EUR][1000 genomes]
rs2520259	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2520262	0.95[EUR][1000 genomes]
rs2520266	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2520270	0.98[EUR][1000 genomes]
rs2520272	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2520276	0.85[EUR][1000 genomes]
rs2520278	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2520279	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2712186	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2712188	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2712192	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2712194	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2712203	0.94[EUR][1000 genomes]
rs2712217	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2712223	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2712225	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28410326	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3779496	0.83[EUR][1000 genomes]
rs4588787	0.88[AMR][1000 genomes]
rs4610672	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4727682	0.95[EUR][1000 genomes]
rs60490203	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62483724	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6466172	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6466174	0.92[EUR][1000 genomes]
rs6945488	0.87[EUR][1000 genomes]
rs6962433	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6968804	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6979121	0.81[EUR][1000 genomes]
rs7786186	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7787113	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7791955	0.83[EUR][1000 genomes]
rs7805630	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1019963	chr7:107033342-107188641	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv539052	chr7:107033342-107188641	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1028571	chr7:107114479-107299723	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv539053	chr7:107114479-107299723	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv482365	chr7:107122401-107271861	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv608074	chr7:107179131-107260856	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107154000-107193800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:107156400-107195000	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:107162200-107203400	Weak transcription	Fetal Kidney	kidney
4	chr7:107166600-107194600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:107170200-107203600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:107172800-107200200	Weak transcription	Psoas Muscle	Psoas
7	chr7:107178600-107194200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:107178800-107194400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:107179400-107203200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:107182800-107188400	Strong transcription	Duodenum Mucosa	Duodenum
11	chr7:107183000-107188600	Strong transcription	Hela-S3	cervix
12	chr7:107183200-107188400	Strong transcription	Dnd41	blood
13	chr7:107183200-107198800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr7:107183600-107188000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:107183600-107188200	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr7:107183600-107188200	Strong transcription	HUVEC	blood vessel
17	chr7:107183600-107189000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:107183800-107188600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:107184000-107187800	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr7:107184200-107188400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:107184400-107187800	Strong transcription	Colonic Mucosa	Colon
22	chr7:107184400-107188200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
23	chr7:107184400-107188200	Strong transcription	Placenta	Placenta
24	chr7:107184400-107188200	Strong transcription	NHDF-Ad	bronchial
25	chr7:107184400-107189000	Strong transcription	Fetal Thymus	thymus
26	chr7:107184600-107188000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:107184600-107188200	Strong transcription	Rectal Smooth Muscle	rectum
28	chr7:107184600-107195800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:107184800-107188200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr7:107184800-107188600	Strong transcription	Liver	Liver
31	chr7:107185000-107188000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr7:107185000-107188200	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:107185000-107188200	Strong transcription	NH-A	brain
34	chr7:107185000-107200200	Weak transcription	Pancreas	Pancrea
35	chr7:107185000-107203600	Weak transcription	Gastric	stomach
36	chr7:107185200-107188000	Strong transcription	HSMM	muscle
37	chr7:107185200-107188400	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:107185200-107189000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:107185200-107193200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr7:107185200-107193400	Weak transcription	Brain Substantia Nigra	brain
41	chr7:107185200-107194400	Weak transcription	Aorta	Aorta
42	chr7:107185200-107199800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:107185200-107203600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:107185200-107203800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:107185400-107187800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr7:107185600-107194600	Weak transcription	Brain Anterior Caudate	brain
47	chr7:107185800-107188200	ZNF genes & repeats	Primary T cells from cord blood	blood
48	chr7:107186000-107188600	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:107186000-107189000	Strong transcription	Primary B cells from peripheral blood	blood
50	chr7:107186000-107194000	Weak transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links