Variant report

Variant	rs12471256
Chromosome Location	chr2:153228720-153228721
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10460316	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs11884490	1.00[CEU][hapmap]
rs12465320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12468749	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12622247	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12986786	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs16831031	1.00[CEU][hapmap]
rs16831043	1.00[YRI][hapmap]
rs36012952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4293523	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4664575	0.84[AMR][1000 genomes]
rs61079826	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153203000-153233000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:153206800-153240800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:153207600-153246400	Weak transcription	Fetal Intestine Small	intestine
4	chr2:153209400-153237000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:153216600-153233400	Weak transcription	Fetal Lung	lung
6	chr2:153221800-153229600	Enhancers	HepG2	liver
7	chr2:153222600-153230600	Enhancers	Brain Hippocampus Middle	brain
8	chr2:153223200-153229600	Enhancers	Ovary	ovary
9	chr2:153223400-153237000	Weak transcription	Right Atrium	heart
10	chr2:153224200-153234600	Weak transcription	Adipose Nuclei	Adipose
11	chr2:153224600-153228800	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:153224600-153233000	Weak transcription	Pancreas	Pancrea
13	chr2:153224800-153246000	Weak transcription	Fetal Stomach	stomach
14	chr2:153225400-153232200	Enhancers	Brain Substantia Nigra	brain
15	chr2:153225600-153229600	Enhancers	Placenta	Placenta
16	chr2:153225800-153232200	Enhancers	Psoas Muscle	Psoas
17	chr2:153226200-153233000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:153226200-153233200	Weak transcription	Hela-S3	cervix
19	chr2:153226200-153237000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:153226200-153237000	Weak transcription	Aorta	Aorta
21	chr2:153226200-153237000	Weak transcription	Left Ventricle	heart
22	chr2:153226200-153249400	Weak transcription	Right Ventricle	heart
23	chr2:153226200-153251800	Weak transcription	HSMMtube	muscle
24	chr2:153226400-153231400	Weak transcription	NHEK	skin
25	chr2:153226400-153232600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:153226400-153232800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:153226600-153228800	Weak transcription	Fetal Kidney	kidney
28	chr2:153226600-153229000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:153226600-153229000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:153226600-153232800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:153226600-153232800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:153226600-153232800	Weak transcription	HMEC	breast
33	chr2:153226800-153233000	Weak transcription	Gastric	stomach
34	chr2:153226800-153236600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:153226800-153237000	Weak transcription	NHLF	lung
36	chr2:153226800-153240000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:153227000-153229000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr2:153227000-153229000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:153227000-153237200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:153227000-153242000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:153227400-153232000	Enhancers	Brain Angular Gyrus	brain
42	chr2:153227400-153232800	Weak transcription	A549	lung
43	chr2:153227600-153228800	Weak transcription	Brain Anterior Caudate	brain
44	chr2:153227600-153228800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:153227600-153229600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:153227800-153228800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr2:153227800-153231400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:153227800-153232600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:153227800-153232800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:153227800-153239400	Weak transcription	NHDF-Ad	bronchial

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