Variant report

Variant	rs1260709
Chromosome Location	chr12:32267307-32267308
allele	A/C
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	chr12:32266483..32268686-chr12:32270377..32273170,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257530	Chromatin interaction
ENSG00000151746	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10844128	0.81[AFR][1000 genomes]
rs7970965	0.81[AFR][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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32261000-32268600	Weak transcription	Spleen	Spleen
2	chr12:32261200-32268400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr12:32261200-32268400	Weak transcription	Left Ventricle	heart
4	chr12:32261200-32271200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:32261200-32277600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:32261200-32277600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:32261400-32268600	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:32261400-32273800	Weak transcription	Fetal Thymus	thymus
9	chr12:32262000-32268400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:32262000-32268600	Weak transcription	Adipose Nuclei	Adipose
11	chr12:32262200-32268000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:32262200-32268400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr12:32262200-32268400	Weak transcription	Aorta	Aorta
14	chr12:32262200-32268400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:32262200-32268400	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:32262200-32268400	Weak transcription	Fetal Heart	heart
17	chr12:32262200-32268400	Weak transcription	Fetal Stomach	stomach
18	chr12:32262200-32268400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:32262200-32268400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:32262200-32271600	Weak transcription	Fetal Intestine Small	intestine
21	chr12:32262200-32273200	Weak transcription	Small Intestine	intestine
22	chr12:32262200-32275600	Weak transcription	Thymus	Thymus
23	chr12:32262400-32267800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:32262400-32267800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:32262400-32268400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:32262400-32268400	Weak transcription	Right Atrium	heart
27	chr12:32262400-32268600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:32262400-32287400	Weak transcription	Primary T cells from cord blood	blood
29	chr12:32262400-32290200	Weak transcription	Primary B cells from cord blood	blood
30	chr12:32263200-32267800	Weak transcription	HUVEC	blood vessel
31	chr12:32263200-32268400	Weak transcription	Brain Substantia Nigra	brain
32	chr12:32263200-32268600	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:32263200-32274000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr12:32263200-32287000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr12:32263400-32268400	Weak transcription	GM12878-XiMat	blood
36	chr12:32263600-32267600	Weak transcription	NHLF	lung
37	chr12:32263600-32267800	Weak transcription	NHEK	skin
38	chr12:32263600-32268600	Weak transcription	Brain Germinal Matrix	brain
39	chr12:32263600-32273200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:32263800-32268400	Weak transcription	Brain Anterior Caudate	brain
41	chr12:32264200-32267400	Weak transcription	Hela-S3	cervix
42	chr12:32264200-32268200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:32264200-32268200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:32264200-32268400	Weak transcription	Brain Angular Gyrus	brain
45	chr12:32264200-32268400	Weak transcription	Ovary	ovary
46	chr12:32264200-32268600	Weak transcription	K562	blood
47	chr12:32264200-32272600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:32264400-32267600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr12:32264400-32267600	Weak transcription	NH-A	brain
50	chr12:32264400-32267600	Weak transcription	NHDF-Ad	bronchial

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