Variant report

Variant	rs2417734
Chromosome Location	chr12:10533406-10533407
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1049172	0.85[YRI][hapmap]
rs10743888	0.82[EUR][1000 genomes]
rs10743889	0.81[EUR][1000 genomes]
rs1351113	0.85[YRI][hapmap]
rs1382264	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1382265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1478309	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1478310	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1600127	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17549004	0.88[EUR][1000 genomes]
rs1841958	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs2045876	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2100923	0.81[EUR][1000 genomes]
rs2126888	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2126889	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2246809	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2255336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2255353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2255364	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2294147	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs2617150	0.82[CHB][hapmap];0.84[JPT][hapmap];0.86[YRI][hapmap]
rs2617151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2617152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2617156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2617157	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2617169	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2617172	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2733840	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2733845	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2733847	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2733848	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2733852	0.82[JPT][hapmap];0.82[YRI][hapmap]
rs2733853	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2734414	0.93[CEU][hapmap]
rs2734561	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2734565	0.82[JPT][hapmap]
rs2927561	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4492900	0.81[CEU][hapmap]
rs4764430	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs6488285	0.90[EUR][1000 genomes]
rs7307721	0.90[EUR][1000 genomes]
rs7310643	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs7314384	0.80[CHB][hapmap];0.91[JPT][hapmap]
rs7397310	0.82[EUR][1000 genomes]
rs7957681	0.90[EUR][1000 genomes]
rs7958658	0.90[EUR][1000 genomes]
rs7964772	0.90[EUR][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	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
5	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
6	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
7	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
8	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
9	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
10	nsv8914	chr12:10532300-10662676	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv557456	chr12:10532326-10698255	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2417734	KLRC4///KLRK1	Cis_1M	lymphoblastoid	RTeQTL
rs2417734	KLRK1	Cis_1M	lymphoblastoid	RTeQTL
rs2417734	RP11-277P12.20	cis	Esophagus Mucosa	GTEx
rs2417734	KLRC4	cis	lesional skin	skin_eQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10518400-10537000	Weak transcription	Left Ventricle	heart
2	chr12:10519600-10534800	Weak transcription	Fetal Stomach	stomach
3	chr12:10519600-10547800	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:10521800-10534600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:10522400-10534000	Weak transcription	Thymus	Thymus
6	chr12:10523000-10536000	Weak transcription	Ovary	ovary
7	chr12:10525400-10547200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:10525600-10534600	Weak transcription	Pancreas	Pancrea
9	chr12:10525800-10534400	Weak transcription	Spleen	Spleen
10	chr12:10527200-10534400	Weak transcription	Brain Substantia Nigra	brain
11	chr12:10527400-10534400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:10527600-10538600	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:10531200-10544400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr12:10531800-10534400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:10532000-10534600	Strong transcription	Primary B cells from cord blood	blood
16	chr12:10532800-10533600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:10533000-10533800	Strong transcription	Primary T cells from cord blood	blood
18	chr12:10533000-10533800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:10533000-10533800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:10533000-10534000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
21	chr12:10533000-10534600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:10533000-10534600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:10533000-10534800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:10533000-10534800	Strong transcription	NHEK	skin
25	chr12:10533200-10533600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
26	chr12:10533200-10533600	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
27	chr12:10533200-10533800	Strong transcription	Fetal Intestine Large	intestine
28	chr12:10533200-10533800	Strong transcription	Fetal Intestine Small	intestine
29	chr12:10533200-10534800	Genic enhancers	Hela-S3	cervix
30	chr12:10533200-10541400	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:10533400-10533600	Weak transcription	Fetal Thymus	thymus
32	chr12:10533400-10534000	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr12:10533400-10534800	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood

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