Variant report

Variant	rs2888602
Chromosome Location	chr2:39760800-39760801
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39742330..39745298-chr2:39759462..39761280,2	MCF-7	breast:
2	chr2:39751067..39752674-chr2:39760072..39761587,2	MCF-7	breast:
3	chr2:39757987..39759726-chr2:39760387..39763403,3	K562	blood:

Variant related genes	Relation type
ENSG00000231312	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10191970	1.00[JPT][hapmap]
rs13027520	0.80[ASN][1000 genomes]
rs13391377	0.80[ASN][1000 genomes]
rs17023874	0.84[ASN][1000 genomes]
rs17023923	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35377016	0.80[ASN][1000 genomes]
rs4569458	0.96[AFR][1000 genomes]
rs4670282	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4670285	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4670943	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72803115	0.81[ASN][1000 genomes]
rs734663	0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7565507	0.81[EUR][1000 genomes]
rs7588713	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7594624	0.81[ASN][1000 genomes]
rs7594967	1.00[JPT][hapmap]
rs7608399	0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39749400-39761000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:39750000-39761000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:39752600-39760800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:39753400-39761000	Weak transcription	HSMMtube	muscle
5	chr2:39753400-39768400	Weak transcription	Right Ventricle	heart
6	chr2:39753400-39768600	Weak transcription	Right Atrium	heart
7	chr2:39753600-39767000	Weak transcription	Psoas Muscle	Psoas
8	chr2:39757200-39761800	Weak transcription	Aorta	Aorta
9	chr2:39757800-39761400	Weak transcription	NH-A	brain
10	chr2:39758000-39760800	Weak transcription	NHEK	skin
11	chr2:39758000-39761000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:39758000-39761000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:39758200-39761800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:39758200-39767400	Weak transcription	Fetal Kidney	kidney
15	chr2:39758400-39760800	Weak transcription	Fetal Heart	heart
16	chr2:39758400-39761000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:39758400-39761200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:39758400-39761400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:39758600-39760800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:39758600-39761000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:39758600-39761200	Weak transcription	NHDF-Ad	bronchial
22	chr2:39758600-39761400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:39758600-39761400	Weak transcription	NHLF	lung
24	chr2:39758600-39761400	Weak transcription	Osteobl	bone
25	chr2:39758600-39766600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:39758600-39767000	Weak transcription	Lung	lung
27	chr2:39759400-39764200	Enhancers	HepG2	liver
28	chr2:39760200-39761200	Enhancers	Placenta	Placenta
29	chr2:39760200-39761600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr2:39760200-39761800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:39760400-39760800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:39760400-39761800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:39760400-39762000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr2:39760400-39762200	Enhancers	HSMM	muscle
35	chr2:39760400-39763000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:39760400-39763000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:39760600-39761000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:39760600-39766200	Weak transcription	Left Ventricle	heart
39	chr2:39760800-39761000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr2:39760800-39761200	Enhancers	Fetal Heart	heart
41	chr2:39760800-39761800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:39760800-39762600	Enhancers	HMEC	breast
43	chr2:39760800-39762800	Enhancers	Muscle Satellite Cultured Cells	--
44	chr2:39760800-39762800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:39760800-39763000	Enhancers	NHEK	skin

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