Variant report

Variant	rs2045876
Chromosome Location	chr12:10541832-10541833
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:10541497-10542115	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr12:10541815-10541946	Hela-S3	cervix:	n/a	n/a
3	TCF7L2	chr12:10541448-10542234	Hela-S3	cervix:	n/a	n/a
4	TBP	chr12:10540861-10541973	Hela-S3	cervix:	n/a	n/a
5	EP300	chr12:10541606-10542088	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
KLRK1	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10743888	0.80[EUR][1000 genomes]
rs12318583	0.84[AMR][1000 genomes]
rs1382264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1382265	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1478309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1478310	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1600127	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17549004	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2126888	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2126889	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2246809	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2255336	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2255353	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2255364	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2294147	0.89[ASN][1000 genomes]
rs2417734	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2617151	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2617152	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2617156	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2617157	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2617169	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2617172	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2733840	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733845	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2733847	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2733848	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2733853	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2734561	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2927561	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4764430	0.87[EUR][1000 genomes]
rs6488285	0.88[EUR][1000 genomes]
rs7307721	0.88[EUR][1000 genomes]
rs7310643	0.86[EUR][1000 genomes]
rs7397310	0.80[EUR][1000 genomes]
rs7957681	0.88[EUR][1000 genomes]
rs7958658	0.88[EUR][1000 genomes]
rs7964772	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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
12	nsv898764	chr12:10537269-10698255	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv898765	chr12:10537269-10701992	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv898766	chr12:10537269-10722585	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	nsv430461	chr12:10539815-10554033	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2045876	KLRC2	cis	lung	GTEx
rs2045876	KLRC4///KLRK1	Cis_1M	lymphoblastoid	RTeQTL
rs2045876	KLRK1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10519600-10547800	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:10525400-10547200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:10531200-10544400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr12:10533800-10544600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:10534600-10544600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:10534800-10542000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:10534800-10544400	Weak transcription	NHEK	skin
8	chr12:10534800-10548800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:10536200-10542800	Active TSS	Primary T cells fromperipheralblood	blood
10	chr12:10537200-10542800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:10537400-10543000	Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr12:10538400-10542800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr12:10538400-10544400	Weak transcription	Osteobl	bone
14	chr12:10538400-10544600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:10538400-10544800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:10538600-10544400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:10538800-10543200	Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr12:10538800-10544400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:10539600-10542600	Active TSS	Primary B cells from cord blood	blood
20	chr12:10539600-10544600	Weak transcription	HSMM	muscle
21	chr12:10539800-10544400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:10540000-10544400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:10541400-10542400	Active TSS	Primary hematopoietic stem cells	blood
24	chr12:10541400-10543200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:10541800-10542000	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr12:10541800-10543400	Enhancers	Hela-S3	cervix

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