Variant report

Variant	rs3756636
Chromosome Location	chr5:80546499-80546500
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80546433..80550284-chr5:80550387..80553828,5	K562	blood:

Variant related genes	Relation type
ENSG00000131730	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10041138	0.80[CEU][hapmap]
rs10052929	0.85[CEU][hapmap]
rs10061143	0.89[CEU][hapmap]
rs1566433	0.85[CEU][hapmap]
rs2124888	0.82[CEU][hapmap]
rs4704711	0.96[CEU][hapmap]
rs4704714	0.85[CEU][hapmap]
rs6863732	0.85[CEU][hapmap]
rs6885028	0.88[CEU][hapmap]
rs7709071	0.88[CEU][hapmap]
rs7709149	0.88[CEU][hapmap];0.82[TSI][hapmap]
rs7734902	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598750	chr5:80503528-80599578	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80528000-80564400	Weak transcription	Hela-S3	cervix
2	chr5:80529400-80549400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:80530800-80556400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr5:80531200-80551200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:80531200-80556400	Weak transcription	Thymus	Thymus
6	chr5:80531200-80564200	Weak transcription	HepG2	liver
7	chr5:80531800-80555800	Weak transcription	Fetal Lung	lung
8	chr5:80532000-80548400	Weak transcription	Lung	lung
9	chr5:80532200-80548400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:80532200-80551000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:80532200-80556800	Weak transcription	Dnd41	blood
12	chr5:80536200-80547800	Weak transcription	Spleen	Spleen
13	chr5:80536200-80548600	Weak transcription	Fetal Intestine Small	intestine
14	chr5:80538400-80551400	Weak transcription	GM12878-XiMat	blood
15	chr5:80539000-80555200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:80539200-80548400	Weak transcription	Gastric	stomach
17	chr5:80541400-80549200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:80541800-80550600	Weak transcription	Fetal Intestine Large	intestine
19	chr5:80541800-80564400	Weak transcription	A549	lung
20	chr5:80542200-80557000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr5:80542400-80548600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:80542800-80548400	Weak transcription	Esophagus	oesophagus
23	chr5:80542800-80548800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr5:80543000-80548400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:80543000-80554200	Weak transcription	Pancreas	Pancrea
26	chr5:80543400-80547400	Weak transcription	Small Intestine	intestine
27	chr5:80543600-80549000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:80543800-80565600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:80544000-80549200	Weak transcription	NHEK	skin
30	chr5:80544000-80549400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:80544000-80557000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr5:80544000-80564200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:80544000-80564400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:80544200-80547800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:80544200-80548000	Weak transcription	Adipose Nuclei	Adipose
36	chr5:80544200-80549200	Weak transcription	HMEC	breast
37	chr5:80544200-80549400	Weak transcription	HSMM	muscle
38	chr5:80544200-80549800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:80544200-80550800	Weak transcription	Osteobl	bone
40	chr5:80544200-80551000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:80544200-80551200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr5:80544200-80561400	Weak transcription	NHLF	lung
43	chr5:80544200-80564600	Weak transcription	HSMMtube	muscle
44	chr5:80544400-80547800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr5:80544400-80547800	Weak transcription	Aorta	Aorta
46	chr5:80544400-80548000	Weak transcription	Brain Anterior Caudate	brain
47	chr5:80544400-80548400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:80544400-80550600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr5:80544400-80551400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:80544600-80547600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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