Variant report

Variant	rs7980379
Chromosome Location	chr12:10520190-10520191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs4764430	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6488285	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7307721	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7310643	0.98[ASN][1000 genomes]
rs7957681	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7958658	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7964772	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7965744	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7980379	KLRK1	Cis_1M	lymphoblastoid	RTeQTL
rs7980379	KLRC4///KLRK1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10518400-10520400	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:10518400-10521000	Weak transcription	Ovary	ovary
3	chr12:10518400-10537000	Weak transcription	Left Ventricle	heart
4	chr12:10518600-10520200	Enhancers	Fetal Intestine Large	intestine
5	chr12:10518600-10520400	Enhancers	Fetal Lung	lung
6	chr12:10518600-10520400	Enhancers	Dnd41	blood
7	chr12:10518600-10521000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:10518600-10521000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:10518600-10521000	Enhancers	Brain Anterior Caudate	brain
10	chr12:10518600-10521000	Enhancers	Brain Cingulate Gyrus	brain
11	chr12:10518600-10521000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:10518600-10521400	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr12:10518600-10525200	Weak transcription	Lung	lung
14	chr12:10518600-10526600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:10518800-10521000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr12:10518800-10521000	Enhancers	Brain Substantia Nigra	brain
17	chr12:10518800-10527400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:10519000-10523600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr12:10519000-10525200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:10519200-10520400	Genic enhancers	Hela-S3	cervix
21	chr12:10519200-10520600	Enhancers	Fetal Kidney	kidney
22	chr12:10519200-10521000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:10519200-10522200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:10519200-10523400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:10519200-10523600	Weak transcription	Gastric	stomach
26	chr12:10519200-10525200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:10519200-10525200	Weak transcription	Spleen	Spleen
28	chr12:10519200-10525400	Weak transcription	Aorta	Aorta
29	chr12:10519400-10520200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr12:10519400-10520200	Weak transcription	Fetal Thymus	thymus
31	chr12:10519400-10520800	Weak transcription	Adipose Nuclei	Adipose
32	chr12:10519400-10520800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr12:10519400-10520800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:10519400-10521000	Weak transcription	Brain Angular Gyrus	brain
35	chr12:10519400-10521000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr12:10519400-10521200	Genic enhancers	Primary T cells fromperipheralblood	blood
37	chr12:10519400-10522200	Weak transcription	Psoas Muscle	Psoas
38	chr12:10519400-10523400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:10519400-10525000	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr12:10519400-10525000	Weak transcription	Pancreas	Pancrea
41	chr12:10519400-10525200	Weak transcription	Esophagus	oesophagus
42	chr12:10519400-10525200	Weak transcription	Right Atrium	heart
43	chr12:10519600-10520200	Weak transcription	Primary B cells from cord blood	blood
44	chr12:10519600-10520400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:10519600-10521000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:10519600-10521000	Enhancers	Brain Hippocampus Middle	brain
47	chr12:10519600-10521000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:10519600-10521000	Weak transcription	Placenta	Placenta
49	chr12:10519600-10521200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:10519600-10521200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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