Variant report

Variant	rs12613219
Chromosome Location	chr2:153379104-153379105
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153365869..153368986-chr2:153378102..153382040,3	MCF-7	breast:
2	chr2:153377943..153379745-chr2:153415461..153418420,2	K562	blood:
3	chr2:153376259..153378137-chr2:153378821..153381513,2	K562	blood:
4	chr2:153377446..153381563-chr2:153382108..153385052,5	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10168793	0.87[ASN][1000 genomes]
rs10182254	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10188611	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10209069	0.85[ASN][1000 genomes]
rs10211164	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10931154	0.84[ASN][1000 genomes]
rs11904088	0.93[ASN][1000 genomes]
rs12612608	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12619679	0.93[ASN][1000 genomes]
rs12619706	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12622731	0.85[ASN][1000 genomes]
rs13404703	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13427485	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831307	0.82[ASN][1000 genomes]
rs2346182	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2577182	0.85[ASN][1000 genomes]
rs4664114	0.81[EUR][1000 genomes]
rs4664592	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664593	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581544	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs893331	0.85[ASN][1000 genomes]
rs9288108	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153361000-153398600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:153362400-153379400	Weak transcription	Fetal Brain Male	brain
3	chr2:153365600-153386000	Weak transcription	Fetal Stomach	stomach
4	chr2:153371000-153379200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:153373000-153380200	Weak transcription	Brain Germinal Matrix	brain
6	chr2:153374400-153381200	Weak transcription	Gastric	stomach
7	chr2:153374600-153385000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:153375000-153381600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:153375400-153382200	Weak transcription	Fetal Kidney	kidney
10	chr2:153375600-153385000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:153376000-153380800	Weak transcription	Aorta	Aorta
12	chr2:153376000-153380800	Weak transcription	Ovary	ovary
13	chr2:153376000-153381200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:153376000-153381400	Weak transcription	Lung	lung
15	chr2:153376000-153381400	Weak transcription	Psoas Muscle	Psoas
16	chr2:153376000-153381600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:153376000-153381600	Weak transcription	Fetal Lung	lung
18	chr2:153376000-153381600	Weak transcription	Right Atrium	heart
19	chr2:153376000-153381800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:153376000-153381800	Weak transcription	Pancreas	Pancrea
21	chr2:153376000-153382000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:153376000-153385200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:153376000-153388800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:153376200-153379200	Weak transcription	Osteobl	bone
25	chr2:153376200-153379400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:153376200-153380800	Weak transcription	NHEK	skin
27	chr2:153376200-153382800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:153376200-153384800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:153376200-153384800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:153376400-153379200	Weak transcription	HMEC	breast
31	chr2:153376400-153381400	Weak transcription	Brain Angular Gyrus	brain
32	chr2:153376400-153381800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:153376400-153382000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:153376600-153381200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:153376600-153390600	Weak transcription	Colon Smooth Muscle	Colon
36	chr2:153377600-153380800	Weak transcription	A549	lung
37	chr2:153377600-153381200	Weak transcription	HepG2	liver
38	chr2:153377800-153381600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:153377800-153381800	Weak transcription	Small Intestine	intestine
40	chr2:153378000-153379200	Weak transcription	NHDF-Ad	bronchial
41	chr2:153378000-153380200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:153378000-153381800	Weak transcription	Stomach Mucosa	stomach
43	chr2:153378000-153385000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:153378200-153379400	Enhancers	NH-A	brain
45	chr2:153378200-153380800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:153378400-153381200	Weak transcription	Brain Anterior Caudate	brain
47	chr2:153378400-153381200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:153378400-153381200	Weak transcription	Brain Hippocampus Middle	brain
49	chr2:153378400-153381200	Weak transcription	Brain Substantia Nigra	brain
50	chr2:153378400-153382000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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