Variant report

Variant	rs7602751
Chromosome Location	chr2:174003249-174003250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173996961..173999501-chr2:174001497..174003387,2	K562	blood:
2	chr2:174002531..174005175-chr2:174006407..174008888,2	K562	blood:
3	chr2:174001713..174004612-chr2:174011601..174013779,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12465665	0.89[ASN][1000 genomes]
rs12996371	0.95[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs16861266	0.95[CHB][hapmap]
rs16861279	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs2053964	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs3769190	0.86[ASN][1000 genomes]
rs3769206	0.95[CHB][hapmap]
rs4632313	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs56676752	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv834461	chr2:173979734-174038471	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173974400-174005200	Weak transcription	Fetal Intestine Small	intestine
2	chr2:173982800-174006400	Weak transcription	Fetal Lung	lung
3	chr2:173988200-174004600	Weak transcription	Fetal Intestine Large	intestine
4	chr2:173989200-174006000	Weak transcription	Primary B cells from cord blood	blood
5	chr2:173989600-174003800	Weak transcription	Right Ventricle	heart
6	chr2:173989600-174007600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:173991800-174005200	Weak transcription	K562	blood
8	chr2:173996600-174012800	Weak transcription	Ovary	ovary
9	chr2:173996600-174013400	Weak transcription	Aorta	Aorta
10	chr2:173997400-174003400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:174001200-174005400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:174001400-174005200	Weak transcription	A549	lung
13	chr2:174001600-174006000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:174001600-174012800	Weak transcription	Left Ventricle	heart
15	chr2:174001600-174013200	Weak transcription	HUVEC	blood vessel
16	chr2:174001800-174003400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:174001800-174003400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:174001800-174003800	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:174001800-174005400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:174001800-174005600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:174002000-174003400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:174002000-174003600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:174002000-174005800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:174002000-174010800	Weak transcription	NHLF	lung
25	chr2:174002000-174012800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:174002200-174003400	Weak transcription	HMEC	breast
27	chr2:174002200-174003600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:174002200-174005400	Weak transcription	NHEK	skin
29	chr2:174002200-174005800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:174002200-174005800	Weak transcription	Dnd41	blood
31	chr2:174002200-174010200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:174002200-174012800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:174002200-174012800	Weak transcription	Osteobl	bone
34	chr2:174002200-174014600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:174002200-174014600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr2:174002600-174003800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:174002600-174006000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:174002600-174006000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:174002600-174006000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr2:174002800-174003600	Enhancers	Psoas Muscle	Psoas
41	chr2:174002800-174003800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:174002800-174013000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:174003000-174003600	Weak transcription	GM12878-XiMat	blood
44	chr2:174003000-174004200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr2:174003000-174006800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:174003200-174004200	Enhancers	Fetal Heart	heart

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