Variant report

Variant	rs1260708
Chromosome Location	chr12:32265847-32265848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:32258139..32262130-chr12:32264296..32270162,5	K562	blood:
2	chr12:32264689..32269066-chr12:32271365..32275666,5	K562	blood:
3	chr12:32258502..32261631-chr12:32261998..32266748,8	K562	blood:

Variant related genes	Relation type
ENSG00000151746	Chromatin interaction
ENSG00000257530	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10771921	0.80[AMR][1000 genomes]
rs10844137	0.80[AMR][1000 genomes]
rs10844139	0.80[AMR][1000 genomes]
rs11051885	1.00[ASW][hapmap]
rs11051890	1.00[ASW][hapmap]
rs1144717	0.89[ASN][1000 genomes]
rs1151011	0.80[AMR][1000 genomes]
rs1151012	0.80[AMR][1000 genomes]
rs1151016	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1151017	0.84[ASN][1000 genomes]
rs1261166	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1261167	0.92[AMR][1000 genomes]
rs13328922	1.00[ASW][hapmap]
rs1618256	0.81[CEU][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];0.80[GIH][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1631036	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1673857	1.00[ASW][hapmap];0.95[CEU][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];0.93[JPT][hapmap];0.91[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1673858	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1684146	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1684149	0.90[CEU][hapmap];0.85[GIH][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1716937	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1716941	0.81[CEU][hapmap];0.83[CHB][hapmap];0.85[GIH][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1798260	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1798265	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2458120	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2594013	0.80[AMR][1000 genomes]
rs2630566	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2652014	0.80[AMR][1000 genomes]
rs2652018	0.80[AMR][1000 genomes]
rs2668293	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2683491	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4931613	0.80[AMR][1000 genomes]
rs4931614	0.80[AMR][1000 genomes]
rs4931616	0.80[AMR][1000 genomes]
rs6488034	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv898969	chr12:32224948-32375677	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1042317	chr12:32228872-32316774	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1041733	chr12:32247427-32312547	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32260400-32267200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:32261000-32268600	Weak transcription	Spleen	Spleen
3	chr12:32261200-32268400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr12:32261200-32268400	Weak transcription	Left Ventricle	heart
5	chr12:32261200-32271200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:32261200-32277600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:32261200-32277600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:32261400-32268600	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:32261400-32273800	Weak transcription	Fetal Thymus	thymus
10	chr12:32262000-32268400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:32262000-32268600	Weak transcription	Adipose Nuclei	Adipose
12	chr12:32262200-32268000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:32262200-32268400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr12:32262200-32268400	Weak transcription	Aorta	Aorta
15	chr12:32262200-32268400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:32262200-32268400	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:32262200-32268400	Weak transcription	Fetal Heart	heart
18	chr12:32262200-32268400	Weak transcription	Fetal Stomach	stomach
19	chr12:32262200-32268400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr12:32262200-32268400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:32262200-32271600	Weak transcription	Fetal Intestine Small	intestine
22	chr12:32262200-32273200	Weak transcription	Small Intestine	intestine
23	chr12:32262200-32275600	Weak transcription	Thymus	Thymus
24	chr12:32262400-32267800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:32262400-32267800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:32262400-32268400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:32262400-32268400	Weak transcription	Right Atrium	heart
28	chr12:32262400-32268600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:32262400-32287400	Weak transcription	Primary T cells from cord blood	blood
30	chr12:32262400-32290200	Weak transcription	Primary B cells from cord blood	blood
31	chr12:32263200-32267800	Weak transcription	HUVEC	blood vessel
32	chr12:32263200-32268400	Weak transcription	Brain Substantia Nigra	brain
33	chr12:32263200-32268600	Weak transcription	Brain Hippocampus Middle	brain
34	chr12:32263200-32274000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:32263200-32287000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr12:32263400-32268400	Weak transcription	GM12878-XiMat	blood
37	chr12:32263600-32266000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:32263600-32267600	Weak transcription	NHLF	lung
39	chr12:32263600-32267800	Weak transcription	NHEK	skin
40	chr12:32263600-32268600	Weak transcription	Brain Germinal Matrix	brain
41	chr12:32263600-32273200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:32263800-32268400	Weak transcription	Brain Anterior Caudate	brain
43	chr12:32264200-32266000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr12:32264200-32266000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:32264200-32266800	Weak transcription	Fetal Brain Male	brain
46	chr12:32264200-32267200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:32264200-32267400	Weak transcription	Hela-S3	cervix
48	chr12:32264200-32268200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:32264200-32268200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:32264200-32268400	Weak transcription	Brain Angular Gyrus	brain

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