Variant report

Variant	rs7656865
Chromosome Location	chr4:57926736-57926737
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10016108	1.00[CHB][hapmap]
rs11133472	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[ASN][1000 genomes]
rs11573041	1.00[CHB][hapmap]
rs11573128	1.00[CHB][hapmap]
rs11732394	1.00[CHB][hapmap]
rs13125082	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs13146090	1.00[CHB][hapmap]
rs13146153	1.00[CHB][hapmap]
rs1618761	1.00[CHB][hapmap]
rs17087358	1.00[CHB][hapmap]
rs17183291	1.00[CHB][hapmap];0.83[MKK][hapmap]
rs1718846	1.00[CHB][hapmap]
rs1718848	1.00[CHB][hapmap]
rs4109037	1.00[CHB][hapmap]
rs41495551	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs4865176	1.00[CHB][hapmap]
rs4865177	1.00[CHB][hapmap]

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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7656865	POLR2B	cis	cerebellum	SCAN
rs7656865	CLOCK	cis	cerebellum	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57899600-57942200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:57915800-57930200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:57917600-57931000	Weak transcription	Pancreas	Pancrea
4	chr4:57918000-57929000	Weak transcription	HUVEC	blood vessel
5	chr4:57918600-57929200	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:57918600-57936800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr4:57920400-57930200	Weak transcription	Lung	lung
8	chr4:57920600-57927600	Weak transcription	HMEC	breast
9	chr4:57921000-57926800	Weak transcription	Small Intestine	intestine
10	chr4:57921000-57931000	Weak transcription	NHEK	skin
11	chr4:57921800-57928200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:57922800-57931200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:57923000-57928600	Weak transcription	Psoas Muscle	Psoas
14	chr4:57923000-57929200	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:57923000-57930200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:57923000-57931000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:57923000-57931800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr4:57923000-57932000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:57923400-57926800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:57923600-57928800	Weak transcription	Fetal Lung	lung
21	chr4:57923800-57926800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:57923800-57937200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:57924000-57929400	Weak transcription	Brain Anterior Caudate	brain
24	chr4:57924000-57929800	Weak transcription	Fetal Stomach	stomach
25	chr4:57924000-57931200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:57924200-57926800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:57924200-57926800	Weak transcription	Ovary	ovary
28	chr4:57924200-57927000	Weak transcription	Left Ventricle	heart
29	chr4:57924200-57927200	Weak transcription	HSMM	muscle
30	chr4:57924200-57927600	Weak transcription	Right Atrium	heart
31	chr4:57924200-57927800	Weak transcription	Fetal Heart	heart
32	chr4:57924200-57929200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr4:57924200-57931200	Weak transcription	Spleen	Spleen
34	chr4:57924800-57929400	Weak transcription	Right Ventricle	heart
35	chr4:57925600-57927400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:57925600-57927600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr4:57926000-57927200	Enhancers	Rectal Smooth Muscle	rectum
38	chr4:57926000-57931800	Genic enhancers	HSMMtube	muscle
39	chr4:57926200-57926800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:57926200-57926800	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr4:57926200-57927200	Enhancers	Colon Smooth Muscle	Colon
42	chr4:57926200-57927800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:57926200-57929000	Enhancers	Aorta	Aorta
44	chr4:57926200-57929200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:57926200-57929400	Enhancers	A549	lung
46	chr4:57926400-57926800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr4:57926400-57926800	Enhancers	HepG2	liver
48	chr4:57926400-57927200	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr4:57926400-57927200	Genic enhancers	NH-A	brain
50	chr4:57926400-57927800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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