Variant report

Variant	rs13390675
Chromosome Location	chr2:234776752-234776753
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234775602..234777791-chr7:117824084..117825749,2	MCF-7	breast:
2	chr12:50135056..50135749-chr2:234776462..234777035,2	Hela-S3	cervix:
3	2:234635414-234639782..2:234772667-234780240	Hela-S3	cervix:
4	chr2:234600369..234602177-chr2:234775436..234777156,2	MCF-7	breast:
5	2:234683624-234705119..2:234772667-234780240	Hela-S3	cervix:
6	2:234772667-234780240..2:234954947-234965240	Hela-S3	cervix:
7	2:234543708-234558325..2:234772667-234780240	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000242515	Chromatin interaction
ENSG00000185038	Chromatin interaction
ENSG00000072080	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000167165	Chromatin interaction
ENSG00000128534	Chromatin interaction
ENSG00000234143	Chromatin interaction
ENSG00000241635	Chromatin interaction
ENSG00000243135	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10164928	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204079	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890203	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13384181	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13399418	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17862931	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234763600-234776800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:234764200-234776800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:234771200-234776800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:234774600-234776800	ZNF genes & repeats	Placenta	Placenta
5	chr2:234775000-234776800	ZNF genes & repeats	Fetal Stomach	stomach
6	chr2:234775200-234777400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:234775600-234777200	Active TSS	Hela-S3	cervix
8	chr2:234776000-234777400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr2:234776000-234777400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr2:234776000-234777400	Active TSS	A549	lung
11	chr2:234776000-234777400	Active TSS	K562	blood
12	chr2:234776200-234777400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:234776400-234777000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:234776400-234777200	Active TSS	H1 Cell Line	embryonic stem cell
15	chr2:234776400-234777200	Active TSS	H9 Cell Line	embryonic stem cell
16	chr2:234776400-234777200	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr2:234776400-234777200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:234776400-234777400	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr2:234776400-234777400	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr2:234776400-234777400	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr2:234776400-234777400	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr2:234776400-234777400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr2:234776400-234777400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:234776400-234777400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:234776400-234777600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:234776400-234777600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:234776400-234777600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:234776600-234776800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:234776600-234776800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:234776600-234776800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:234776600-234776800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:234776600-234776800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:234776600-234776800	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr2:234776600-234776800	Enhancers	Primary hematopoietic stem cells	blood
35	chr2:234776600-234776800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr2:234776600-234776800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr2:234776600-234776800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:234776600-234776800	Flanking Active TSS	Liver	Liver
39	chr2:234776600-234776800	Active TSS	Fetal Brain Male	brain
40	chr2:234776600-234776800	Flanking Active TSS	Fetal Intestine Small	intestine
41	chr2:234776600-234776800	Flanking Active TSS	HSMM	muscle
42	chr2:234776600-234777000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:234776600-234777000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:234776600-234777000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr2:234776600-234777000	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr2:234776600-234777000	Flanking Active TSS	Primary B cells from peripheral blood	blood
47	chr2:234776600-234777000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
48	chr2:234776600-234777000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr2:234776600-234777000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr2:234776600-234777000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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