Variant report

Variant	rs3860136
Chromosome Location	chr5:16704806-16704807
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	chr5:16699313..16701301-chr5:16704583..16706193,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10073942	1.00[CHB][hapmap]
rs10074163	1.00[CHB][hapmap]
rs11747522	1.00[CHB][hapmap]
rs2288440	0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs2288442	0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs3849106	0.85[CEU][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs3849107	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs4702164	1.00[CHB][hapmap]
rs6554944	1.00[CHB][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	nsv869660	chr5:16651289-16766428	Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv4737	chr5:16681166-16707357	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16663000-16712400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:16663800-16713400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:16673800-16713400	Weak transcription	Psoas Muscle	Psoas
4	chr5:16675800-16713600	Weak transcription	Left Ventricle	heart
5	chr5:16677800-16706000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:16681600-16713200	Weak transcription	Small Intestine	intestine
7	chr5:16682400-16736000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:16683800-16707200	Weak transcription	Liver	Liver
9	chr5:16686000-16708400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:16688000-16711600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:16688400-16711400	Strong transcription	Fetal Lung	lung
12	chr5:16689800-16710000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr5:16690200-16713200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:16690400-16707400	Weak transcription	Hela-S3	cervix
15	chr5:16695000-16710600	Weak transcription	Stomach Mucosa	stomach
16	chr5:16696600-16705000	Strong transcription	Fetal Stomach	stomach
17	chr5:16697200-16705200	Strong transcription	NHEK	skin
18	chr5:16697200-16711600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:16697400-16705600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:16697400-16711200	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr5:16697400-16711400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:16697800-16705000	Strong transcription	Fetal Muscle Leg	muscle
23	chr5:16697800-16711400	Strong transcription	HMEC	breast
24	chr5:16698000-16711400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:16698000-16711400	Strong transcription	Osteobl	bone
26	chr5:16698200-16711400	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr5:16698400-16707400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:16699000-16705200	Strong transcription	A549	lung
29	chr5:16699000-16706200	Strong transcription	HSMMtube	muscle
30	chr5:16699000-16711400	Strong transcription	Ovary	ovary
31	chr5:16699000-16711400	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:16699200-16705000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr5:16699200-16705600	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr5:16699200-16711400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:16700200-16705200	Strong transcription	Placenta	Placenta
36	chr5:16701400-16709200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr5:16701400-16711200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:16701600-16705000	Weak transcription	Adipose Nuclei	Adipose
39	chr5:16701600-16707400	Weak transcription	Right Atrium	heart
40	chr5:16701800-16708600	Weak transcription	Aorta	Aorta
41	chr5:16701800-16709000	Weak transcription	Colonic Mucosa	Colon
42	chr5:16701800-16709200	Weak transcription	Spleen	Spleen
43	chr5:16701800-16709400	Weak transcription	Esophagus	oesophagus
44	chr5:16701800-16711000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr5:16701800-16711600	Strong transcription	Fetal Intestine Large	intestine
46	chr5:16701800-16713400	Weak transcription	Right Ventricle	heart
47	chr5:16702000-16705000	Genic enhancers	H1 Cell Line	embryonic stem cell
48	chr5:16702000-16709200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr5:16702000-16711400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr5:16702200-16705000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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