Variant report

Variant	rs13427990
Chromosome Location	chr2:153348335-153348336
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153333966..153336557-chr2:153346831..153349647,2	MCF-7	breast:
2	chr2:153345928..153348906-chr2:153354040..153356962,2	MCF-7	breast:
3	chr2:153344407..153345927-chr2:153347913..153350006,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10173899	0.81[ASN][1000 genomes]
rs10194603	0.82[ASN][1000 genomes]
rs10208776	0.93[ASN][1000 genomes]
rs10432493	0.84[ASN][1000 genomes]
rs12616906	0.96[ASN][1000 genomes]
rs12693378	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831169	0.81[ASN][1000 genomes]
rs2078444	0.92[ASN][1000 genomes]
rs2346205	0.81[ASN][1000 genomes]
rs2346209	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2881339	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4143274	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4146259	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4664112	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4664587	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4664589	0.81[ASN][1000 genomes]
rs4664590	0.81[ASN][1000 genomes]
rs59965317	0.87[ASN][1000 genomes]
rs6434059	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6434060	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434061	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6434062	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725661	0.81[ASN][1000 genomes]
rs73968029	0.81[ASN][1000 genomes]
rs7559217	0.86[ASN][1000 genomes]
rs7590207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7592283	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7606592	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv2754362	chr2:153297577-153366129	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv875292	chr2:153308471-153357383	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv2830258	chr2:153318339-153349165	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153334400-153353800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:153338600-153353400	Weak transcription	NHEK	skin
3	chr2:153340600-153354200	Weak transcription	Small Intestine	intestine
4	chr2:153342000-153349000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:153342000-153351600	Enhancers	Brain Substantia Nigra	brain
6	chr2:153342000-153351800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:153342400-153350000	Weak transcription	Right Ventricle	heart
8	chr2:153342600-153355800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:153343000-153360600	Enhancers	Brain Anterior Caudate	brain
10	chr2:153343200-153350000	Weak transcription	HUVEC	blood vessel
11	chr2:153343800-153349800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:153344800-153351000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr2:153345000-153351600	Enhancers	Fetal Lung	lung
14	chr2:153345200-153348800	Enhancers	Fetal Stomach	stomach
15	chr2:153345200-153349000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:153345400-153348600	Enhancers	Fetal Muscle Leg	muscle
17	chr2:153345400-153348600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr2:153345400-153351400	Enhancers	Brain Angular Gyrus	brain
19	chr2:153345600-153348600	Enhancers	Placenta	Placenta
20	chr2:153345600-153348800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:153345600-153349400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:153345600-153349600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:153345600-153350800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:153345800-153348400	Enhancers	Right Atrium	heart
25	chr2:153345800-153348600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr2:153345800-153350000	Weak transcription	Gastric	stomach
27	chr2:153345800-153351600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr2:153346000-153348600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:153346000-153349400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr2:153346200-153349800	Weak transcription	A549	lung
31	chr2:153346200-153350000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:153346200-153350000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:153346200-153352800	Weak transcription	GM12878-XiMat	blood
34	chr2:153346400-153348800	Enhancers	Fetal Intestine Small	intestine
35	chr2:153346400-153348800	Enhancers	Ovary	ovary
36	chr2:153346600-153348400	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr2:153346600-153350000	Enhancers	NHDF-Ad	bronchial
38	chr2:153346600-153351400	Enhancers	Adipose Nuclei	Adipose
39	chr2:153346800-153349400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:153346800-153349400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr2:153347000-153348400	Enhancers	Left Ventricle	heart
42	chr2:153347000-153348800	Enhancers	Primary hematopoietic stem cells	blood
43	chr2:153347400-153348600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr2:153347400-153348600	Enhancers	Fetal Intestine Large	intestine
45	chr2:153347400-153349200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:153347600-153349000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:153347600-153349400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr2:153347600-153354200	Weak transcription	Pancreas	Pancrea
49	chr2:153347800-153348600	Enhancers	Fetal Muscle Trunk	muscle
50	chr2:153347800-153349000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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