Variant report

Variant	rs12475403
Chromosome Location	chr2:113421715-113421716
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113421512..113426143-chr2:113441172..113445759,7	K562	blood:
2	chr2:113420962..113423174-chr2:113470482..113472440,2	K562	blood:
3	chr2:113420288..113422863-chr2:113448665..113451519,3	MCF-7	breast:
4	chr2:113420362..113422891-chr2:113448382..113450135,2	MCF-7	breast:
5	chr2:113421228..113422950-chr2:113462402..113464448,2	K562	blood:
6	chr2:113419485..113422218-chr2:113423311..113426993,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10167360	0.98[ASN][1000 genomes]
rs10184339	0.83[ASN][1000 genomes]
rs10758	0.85[ASN][1000 genomes]
rs10779885	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11123146	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11889567	0.98[ASN][1000 genomes]
rs12467747	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12612089	1.00[ASN][1000 genomes]
rs12612238	0.98[ASN][1000 genomes]
rs12618806	0.98[ASN][1000 genomes]
rs17515708	0.82[ASN][1000 genomes]
rs17515715	0.82[ASN][1000 genomes]
rs2048873	1.00[ASN][1000 genomes]
rs34282612	0.85[ASN][1000 genomes]
rs3827758	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4261730	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4849091	0.84[AFR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4849097	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57033895	0.85[EUR][1000 genomes]
rs58662040	0.83[ASN][1000 genomes]
rs58797970	0.84[EUR][1000 genomes]
rs60372418	0.98[ASN][1000 genomes]
rs6542074	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72823516	0.98[ASN][1000 genomes]
rs7371700	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9308674	0.97[ASN][1000 genomes]
rs9308675	0.98[ASN][1000 genomes]
rs9308676	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv470480	chr2:113373950-113429752	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113405000-113423200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:113405200-113423200	Strong transcription	H1 Cell Line	embryonic stem cell
3	chr2:113405200-113423800	Strong transcription	Fetal Muscle Trunk	muscle
4	chr2:113405400-113422600	Strong transcription	Primary B cells from peripheral blood	blood
5	chr2:113405400-113423200	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:113405400-113423200	Strong transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:113405600-113422000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:113405800-113422600	Strong transcription	Fetal Muscle Leg	muscle
9	chr2:113406000-113423000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:113406200-113423400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:113406200-113423400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:113406200-113423600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:113406200-113424600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:113406400-113423000	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr2:113406400-113423000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:113406400-113423200	Strong transcription	Duodenum Mucosa	Duodenum
17	chr2:113406800-113423200	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr2:113407000-113423000	Strong transcription	NHDF-Ad	bronchial
19	chr2:113407000-113423200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:113407000-113423200	Strong transcription	Fetal Thymus	thymus
21	chr2:113407000-113423200	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:113407000-113423400	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:113407000-113423400	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr2:113407400-113422800	Strong transcription	HSMMtube	muscle
25	chr2:113407600-113422200	Strong transcription	HSMM	muscle
26	chr2:113407600-113422600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:113407600-113422800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:113408200-113423000	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:113408400-113422800	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:113408600-113422200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:113408800-113422600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:113409200-113423400	Strong transcription	Stomach Smooth Muscle	stomach
33	chr2:113411200-113428200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:113411400-113423400	Strong transcription	Fetal Stomach	stomach
35	chr2:113412600-113423200	Strong transcription	Rectal Smooth Muscle	rectum
36	chr2:113412600-113423400	Strong transcription	Thymus	Thymus
37	chr2:113412800-113423400	Strong transcription	NHLF	lung
38	chr2:113414000-113422800	Strong transcription	Brain Cingulate Gyrus	brain
39	chr2:113414000-113423600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:113414200-113423400	Genic enhancers	K562	blood
41	chr2:113414400-113422400	Strong transcription	Brain Hippocampus Middle	brain
42	chr2:113414400-113423000	Strong transcription	Fetal Brain Female	brain
43	chr2:113414800-113422800	Strong transcription	Placenta	Placenta
44	chr2:113415400-113422200	Strong transcription	Left Ventricle	heart
45	chr2:113415600-113423200	Strong transcription	Brain Germinal Matrix	brain
46	chr2:113415800-113423400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:113415800-113423600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:113416000-113423400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:113416800-113423200	Strong transcription	NH-A	brain
50	chr2:113417200-113423000	Strong transcription	NHEK	skin

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