Variant report

Variant	rs7311888
Chromosome Location	chr12:32649404-32649405
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17537634	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs17537724	1.00[AMR][1000 genomes]
rs17609311	1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7311487	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer 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	14 gene(s)	inside rSNPs	diseases
4	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3342938	chr12:32551041-32716745	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv898970	chr12:32622097-32680236	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32594600-32659000	Weak transcription	Esophagus	oesophagus
2	chr12:32621800-32654000	Weak transcription	Lung	lung
3	chr12:32625000-32655800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:32625200-32655200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:32634000-32655000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:32636800-32650800	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:32639000-32655000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:32639400-32653800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:32639400-32653800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:32639400-32653800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:32640200-32651000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:32641000-32651000	Weak transcription	Fetal Intestine Small	intestine
13	chr12:32641200-32653800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:32643200-32650000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:32644000-32653800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:32644800-32650400	Weak transcription	Brain Substantia Nigra	brain
17	chr12:32644800-32654400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:32646000-32653800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:32646200-32651800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:32646200-32654200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr12:32646600-32650400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:32646600-32650600	Weak transcription	Psoas Muscle	Psoas
23	chr12:32646600-32650600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:32646600-32651000	Weak transcription	Pancreas	Pancrea
25	chr12:32646600-32651800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:32646600-32652600	Weak transcription	Left Ventricle	heart
27	chr12:32646600-32653800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr12:32646600-32653800	Weak transcription	Gastric	stomach
29	chr12:32646600-32654000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:32647000-32651800	Weak transcription	Fetal Intestine Large	intestine
31	chr12:32647200-32653000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:32647400-32651400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:32647800-32653800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:32647800-32654000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:32648000-32650400	Weak transcription	Stomach Mucosa	stomach
36	chr12:32648000-32652000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:32648000-32652000	Weak transcription	HUVEC	blood vessel
38	chr12:32648000-32653800	Weak transcription	Spleen	Spleen
39	chr12:32648000-32654200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:32648200-32649800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:32648200-32650600	Weak transcription	Brain Hippocampus Middle	brain
42	chr12:32648200-32650600	Weak transcription	Fetal Heart	heart
43	chr12:32648200-32651000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr12:32648200-32653600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:32648200-32653800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:32648200-32653800	Weak transcription	Adipose Nuclei	Adipose
47	chr12:32648200-32654400	Weak transcription	HMEC	breast
48	chr12:32648200-32655600	Weak transcription	NHEK	skin
49	chr12:32648200-32657200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:32648400-32650600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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