Variant report

Variant	rs7958658
Chromosome Location	chr12:10518828-10518829
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10518506..10519182-chr16:20688297..20688797,2	HCT-116	colon:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10743888	0.87[EUR][1000 genomes]
rs10743889	0.86[EUR][1000 genomes]
rs1382264	0.88[EUR][1000 genomes]
rs1382265	0.90[EUR][1000 genomes]
rs1478309	0.88[EUR][1000 genomes]
rs1478310	0.88[EUR][1000 genomes]
rs1600127	0.90[EUR][1000 genomes]
rs2045876	0.88[EUR][1000 genomes]
rs2100923	0.86[EUR][1000 genomes]
rs2126888	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2126889	0.90[EUR][1000 genomes]
rs2246809	0.86[EUR][1000 genomes]
rs2255336	0.90[EUR][1000 genomes]
rs2255353	0.90[EUR][1000 genomes]
rs2255364	0.90[EUR][1000 genomes]
rs2417734	0.90[EUR][1000 genomes]
rs2617151	0.90[EUR][1000 genomes]
rs2617152	0.90[EUR][1000 genomes]
rs2617156	0.90[EUR][1000 genomes]
rs2617157	0.90[EUR][1000 genomes]
rs2617169	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2617172	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2733840	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2733845	0.88[EUR][1000 genomes]
rs2733847	0.90[EUR][1000 genomes]
rs2733848	0.84[EUR][1000 genomes]
rs2733853	0.84[EUR][1000 genomes]
rs2734561	0.85[EUR][1000 genomes]
rs2927561	0.90[EUR][1000 genomes]
rs4764430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6488285	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7307721	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7310643	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7397310	0.87[EUR][1000 genomes]
rs7957681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964772	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7965744	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7980379	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][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	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832328	chr12:10398071-10620443	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv898759	chr12:10454556-10583365	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv3432683	chr12:10470734-10527581	Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3351751	chr12:10472734-10522269	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv898760	chr12:10492982-10564329	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv898761	chr12:10496724-10564329	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv1036390	chr12:10496724-10596720	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv557455	chr12:10508975-10560957	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv898762	chr12:10509383-10564329	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv898763	chr12:10514528-10603670	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7958658	KLRK1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10516400-10519200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:10517800-10519000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
3	chr12:10517800-10519600	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr12:10518000-10519200	Flanking Active TSS	Hela-S3	cervix
5	chr12:10518000-10519400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:10518200-10519000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:10518200-10519000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr12:10518200-10519200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr12:10518200-10519200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:10518200-10519200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:10518200-10519200	Enhancers	Spleen	Spleen
12	chr12:10518200-10519200	Flanking Active TSS	NHDF-Ad	bronchial
13	chr12:10518200-10519200	Flanking Active TSS	NHEK	skin
14	chr12:10518200-10519400	Enhancers	Esophagus	oesophagus
15	chr12:10518200-10519400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr12:10518200-10519400	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr12:10518200-10519600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr12:10518200-10519600	Enhancers	Placenta	Placenta
19	chr12:10518200-10519800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr12:10518400-10519000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:10518400-10519000	Enhancers	GM12878-XiMat	blood
22	chr12:10518400-10519200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:10518400-10519200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:10518400-10519200	Enhancers	Aorta	Aorta
25	chr12:10518400-10519200	Enhancers	Gastric	stomach
26	chr12:10518400-10519200	Enhancers	Right Ventricle	heart
27	chr12:10518400-10519400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:10518400-10519400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:10518400-10519400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr12:10518400-10519400	Enhancers	Fetal Muscle Leg	muscle
31	chr12:10518400-10519400	Enhancers	Fetal Thymus	thymus
32	chr12:10518400-10519400	Enhancers	Pancreas	Pancrea
33	chr12:10518400-10519400	Enhancers	Psoas Muscle	Psoas
34	chr12:10518400-10519400	Flanking Active TSS	K562	blood
35	chr12:10518400-10519600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr12:10518400-10519600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr12:10518400-10519600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:10518400-10519600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr12:10518400-10519600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr12:10518400-10519600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr12:10518400-10519600	Enhancers	Colonic Mucosa	Colon
42	chr12:10518400-10519600	Enhancers	Fetal Stomach	stomach
43	chr12:10518400-10519600	Enhancers	Small Intestine	intestine
44	chr12:10518400-10520400	Enhancers	Primary B cells from peripheral blood	blood
45	chr12:10518400-10521000	Weak transcription	Ovary	ovary
46	chr12:10518400-10537000	Weak transcription	Left Ventricle	heart
47	chr12:10518600-10519000	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr12:10518600-10519000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr12:10518600-10519000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:10518600-10519000	Enhancers	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links