Variant report

Variant	rs908545
Chromosome Location	chr2:113389232-113389233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113383343..113387238-chr2:113388797..113391596,3	MCF-7	breast:
2	chr2:113347066..113349613-chr2:113387380..113389746,2	K562	blood:
3	chr2:113385104..113391547-chr2:113463938..113470179,6	K562	blood:
4	chr2:113388586..113390776-chr2:113395916..113398828,2	MCF-7	breast:
5	chr2:113388214..113390218-chr2:113391409..113393753,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228251	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1053652	0.85[CHB][hapmap]
rs10758	0.84[CHB][hapmap]
rs11676691	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677284	0.84[EUR][1000 genomes]
rs11678996	0.92[EUR][1000 genomes]
rs11680446	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs12476928	0.86[EUR][1000 genomes]
rs12479380	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs13023016	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[EUR][1000 genomes]
rs13387435	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs35743012	0.81[EUR][1000 genomes]
rs4368335	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4849079	0.81[EUR][1000 genomes]
rs4849084	0.85[CEU][hapmap];0.89[CHB][hapmap];0.84[EUR][1000 genomes]
rs4849086	0.89[CHB][hapmap]
rs62158654	0.82[EUR][1000 genomes]
rs6542074	0.84[CHB][hapmap]
rs6705487	0.84[CHB][hapmap]
rs6724434	0.89[EUR][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	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

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113381600-113389600	Enhancers	Placenta	Placenta
2	chr2:113384200-113392400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:113384600-113389800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:113384600-113390000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:113385000-113389600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:113385000-113389800	Enhancers	NHDF-Ad	bronchial
7	chr2:113385000-113396000	Weak transcription	Colonic Mucosa	Colon
8	chr2:113385000-113402600	Weak transcription	Esophagus	oesophagus
9	chr2:113385200-113390600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:113385400-113389400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:113385800-113389400	Enhancers	NHEK	skin
12	chr2:113385800-113401800	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:113386600-113390000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:113387400-113389600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:113387400-113389600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:113387400-113389600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:113387400-113389800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:113387400-113389800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:113387400-113389800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:113387400-113389800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:113387400-113389800	Enhancers	HSMMtube	muscle
22	chr2:113387600-113389400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:113387600-113389600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr2:113387600-113389600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:113387600-113389600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr2:113387600-113389600	Enhancers	Fetal Muscle Leg	muscle
27	chr2:113387600-113389800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:113387600-113389800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:113387600-113389800	Enhancers	NHLF	lung
30	chr2:113387600-113390000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:113387800-113389400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:113387800-113389400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr2:113387800-113389600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr2:113387800-113389600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:113387800-113389600	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr2:113387800-113389600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr2:113387800-113389600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr2:113387800-113389800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr2:113387800-113389800	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr2:113387800-113389800	Flanking Active TSS	Dnd41	blood
41	chr2:113388000-113389600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:113388000-113389600	Enhancers	Primary B cells from cord blood	blood
43	chr2:113388000-113389600	Enhancers	Fetal Lung	lung
44	chr2:113388000-113389600	Enhancers	Left Ventricle	heart
45	chr2:113388000-113389800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:113388000-113389800	Enhancers	Primary B cells from peripheral blood	blood
47	chr2:113388000-113389800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:113388000-113389800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr2:113388000-113389800	Enhancers	Duodenum Mucosa	Duodenum
50	chr2:113388000-113389800	Enhancers	Fetal Intestine Large	intestine

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