Variant report

Variant	rs7560960
Chromosome Location	chr2:174027123-174027124
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12996371	1.00[CEU][hapmap]
rs16861122	1.00[JPT][hapmap]
rs2358086	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3769150	1.00[CEU][hapmap]
rs3769151	1.00[CEU][hapmap]
rs3769152	1.00[CEU][hapmap]

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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174015400-174027400	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:174015400-174047000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:174016200-174048800	Weak transcription	K562	blood
4	chr2:174016400-174028200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:174021600-174027800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:174021600-174030400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:174022000-174027800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:174024800-174037200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:174025000-174028000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:174025200-174029200	Weak transcription	HUVEC	blood vessel
11	chr2:174025400-174027200	Enhancers	Fetal Intestine Large	intestine
12	chr2:174025800-174030000	Weak transcription	Ovary	ovary
13	chr2:174026000-174029400	Weak transcription	Fetal Lung	lung
14	chr2:174026000-174030600	Weak transcription	Pancreas	Pancrea
15	chr2:174026000-174036800	Weak transcription	Small Intestine	intestine
16	chr2:174026000-174037400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:174026000-174037800	Weak transcription	Aorta	Aorta
18	chr2:174026000-174069000	Weak transcription	Primary B cells from cord blood	blood
19	chr2:174026200-174027600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:174026200-174035200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr2:174026200-174036800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:174026200-174040600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:174026200-174045000	Weak transcription	Fetal Intestine Small	intestine
24	chr2:174026400-174030200	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:174026400-174030400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:174026400-174030600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:174026400-174036600	Weak transcription	NHEK	skin
28	chr2:174026400-174039600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:174026400-174047600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:174026600-174027400	Weak transcription	HMEC	breast
31	chr2:174026600-174027600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:174026600-174027600	Enhancers	Left Ventricle	heart
33	chr2:174026600-174027800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:174026600-174028000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:174026600-174028000	Weak transcription	Adipose Nuclei	Adipose
36	chr2:174026600-174029000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:174026600-174029000	Weak transcription	NHDF-Ad	bronchial
38	chr2:174026600-174029200	Weak transcription	A549	lung
39	chr2:174026600-174030000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:174026600-174030400	Weak transcription	Psoas Muscle	Psoas
41	chr2:174026600-174030800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:174026600-174037800	Weak transcription	Right Ventricle	heart
43	chr2:174026600-174048800	Weak transcription	Liver	Liver
44	chr2:174026600-174083200	Weak transcription	Esophagus	oesophagus
45	chr2:174026800-174028200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:174026800-174030200	Weak transcription	Hela-S3	cervix
47	chr2:174027000-174028000	Weak transcription	NHLF	lung
48	chr2:174027000-174028200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:174027000-174028200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:174027000-174029400	Weak transcription	HepG2	liver

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