Variant report

Variant	rs58662040
Chromosome Location	chr2:113417579-113417580
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113383706..113386562-chr2:113417388..113419756,2	MCF-7	breast:
2	chr2:113417080..113419534-chr2:113478132..113479929,2	K562	blood:
3	chr2:113342394..113343991-chr2:113416861..113418420,2	MCF-7	breast:
4	chr2:113415099..113418730-chr2:113484170..113487314,3	K562	blood:

Variant related genes	Relation type
ENSG00000125611	Chromatin interaction
ENSG00000144130	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10167360	0.82[ASN][1000 genomes]
rs10171024	0.91[EUR][1000 genomes]
rs10184339	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10758	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10779885	0.84[ASN][1000 genomes]
rs11123146	0.83[ASN][1000 genomes]
rs11889567	0.93[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12467747	0.84[ASN][1000 genomes]
rs12475403	0.83[ASN][1000 genomes]
rs12612089	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12612238	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12618806	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17515708	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17515715	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2048873	0.97[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34282612	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35048989	0.92[EUR][1000 genomes]
rs3827758	0.86[ASN][1000 genomes]
rs4261730	0.84[ASN][1000 genomes]
rs4849086	0.91[EUR][1000 genomes]
rs4849091	0.93[ASN][1000 genomes]
rs4849097	0.82[ASN][1000 genomes]
rs60372418	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6542074	0.94[ASN][1000 genomes]
rs6705487	0.85[ASN][1000 genomes]
rs6725228	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72823516	0.82[ASN][1000 genomes]
rs7371700	0.82[ASN][1000 genomes]
rs9308674	0.81[ASN][1000 genomes]
rs9308675	0.93[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9308676	0.82[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	chr2:113405200-113419000	Weak transcription	Stomach Mucosa	stomach
3	chr2:113405200-113423200	Strong transcription	H1 Cell Line	embryonic stem cell
4	chr2:113405200-113423800	Strong transcription	Fetal Muscle Trunk	muscle
5	chr2:113405400-113422600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr2:113405400-113423200	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:113405400-113423200	Strong transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:113405600-113422000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:113405800-113422600	Strong transcription	Fetal Muscle Leg	muscle
10	chr2:113406000-113419600	Strong transcription	Fetal Lung	lung
11	chr2:113406000-113423000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:113406200-113423400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:113406200-113423400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:113406200-113423600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:113406200-113424600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:113406400-113423000	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr2:113406400-113423000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:113406400-113423200	Strong transcription	Duodenum Mucosa	Duodenum
19	chr2:113406800-113423200	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr2:113407000-113420600	Strong transcription	Adipose Nuclei	Adipose
21	chr2:113407000-113423000	Strong transcription	NHDF-Ad	bronchial
22	chr2:113407000-113423200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:113407000-113423200	Strong transcription	Fetal Thymus	thymus
24	chr2:113407000-113423200	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:113407000-113423400	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:113407000-113423400	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr2:113407400-113419400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr2:113407400-113422800	Strong transcription	HSMMtube	muscle
29	chr2:113407600-113422200	Strong transcription	HSMM	muscle
30	chr2:113407600-113422600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:113407600-113422800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:113408200-113423000	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr2:113408400-113422800	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:113408600-113421000	Strong transcription	Brain Anterior Caudate	brain
35	chr2:113408600-113422200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:113408800-113422600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:113409200-113423400	Strong transcription	Stomach Smooth Muscle	stomach
38	chr2:113411000-113418000	Weak transcription	Psoas Muscle	Psoas
39	chr2:113411200-113418000	Strong transcription	Fetal Intestine Small	intestine
40	chr2:113411200-113428200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:113411400-113423400	Strong transcription	Fetal Stomach	stomach
42	chr2:113412400-113420200	Strong transcription	Fetal Intestine Large	intestine
43	chr2:113412600-113418800	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr2:113412600-113421600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:113412600-113421600	Strong transcription	Pancreas	Pancrea
46	chr2:113412600-113423200	Strong transcription	Rectal Smooth Muscle	rectum
47	chr2:113412600-113423400	Strong transcription	Thymus	Thymus
48	chr2:113412800-113423400	Strong transcription	NHLF	lung
49	chr2:113413000-113420800	Strong transcription	Primary B cells from cord blood	blood
50	chr2:113413000-113421600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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