Variant report

Variant	rs161975
Chromosome Location	chr12:32369071-32369072
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs16916329	0.82[ASN][1000 genomes]
rs261888	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][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	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
5	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
6	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
7	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv832366	chr12:32328559-32511360	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32293600-32369200	Weak transcription	Thymus	Thymus
2	chr12:32313400-32369400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:32323600-32373800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:32333400-32369200	Weak transcription	Left Ventricle	heart
5	chr12:32337000-32369800	Weak transcription	Hela-S3	cervix
6	chr12:32348600-32375800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:32348800-32370400	Weak transcription	A549	lung
8	chr12:32352000-32369200	Weak transcription	Osteobl	bone
9	chr12:32352400-32369400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:32352400-32369400	Weak transcription	HMEC	breast
11	chr12:32353400-32369600	Weak transcription	NHDF-Ad	bronchial
12	chr12:32353600-32369400	Weak transcription	Primary B cells from cord blood	blood
13	chr12:32357600-32370600	Weak transcription	Pancreas	Pancrea
14	chr12:32357800-32370600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:32358000-32369200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:32358800-32370600	Weak transcription	NHLF	lung
17	chr12:32359000-32370200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:32361600-32369200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:32361600-32369200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:32361600-32371600	Weak transcription	Fetal Heart	heart
21	chr12:32363400-32369200	Weak transcription	Primary T cells from cord blood	blood
22	chr12:32364000-32369800	Weak transcription	Brain Anterior Caudate	brain
23	chr12:32364000-32370600	Weak transcription	Aorta	Aorta
24	chr12:32364200-32369200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr12:32364200-32369800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:32364200-32370400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr12:32364200-32379800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:32364200-32390000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:32364400-32369200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:32364400-32370600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:32364600-32369200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr12:32364600-32369600	Weak transcription	Adipose Nuclei	Adipose
33	chr12:32364800-32369200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:32364800-32369400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:32364800-32369400	Weak transcription	HSMMtube	muscle
36	chr12:32364800-32372000	Weak transcription	Colon Smooth Muscle	Colon
37	chr12:32364800-32388000	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:32365000-32369200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:32365000-32370000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr12:32365000-32370000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr12:32365000-32390000	Weak transcription	Brain Substantia Nigra	brain
42	chr12:32365000-32390200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr12:32365200-32369200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:32365200-32369600	Weak transcription	Brain Angular Gyrus	brain
45	chr12:32365200-32369800	Weak transcription	Brain Germinal Matrix	brain
46	chr12:32365200-32370600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:32365200-32382800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr12:32365600-32369200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:32365600-32369200	Weak transcription	Ovary	ovary
50	chr12:32365600-32369200	Weak transcription	HUVEC	blood vessel

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