Variant report

Variant	rs17501392
Chromosome Location	chr5:16707837-16707838
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	chr5:16596048..16598772-chr5:16707141..16709830,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs152726	0.92[JPT][hapmap]
rs153184	0.85[JPT][hapmap]
rs153185	1.00[JPT][hapmap]
rs27552	0.81[CHB][hapmap];0.80[CHD][hapmap];0.80[GIH][hapmap];0.92[JPT][hapmap]
rs31293	0.84[ASN][1000 genomes]
rs31299	0.92[JPT][hapmap]
rs39887	0.92[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs40979	0.92[CHD][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap]
rs42564	0.86[JPT][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	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

No data

Chromatin state (count:98 , 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	chr5:16681600-16713200	Weak transcription	Small Intestine	intestine
6	chr5:16682400-16736000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:16686000-16708400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:16688000-16711600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:16688400-16711400	Strong transcription	Fetal Lung	lung
10	chr5:16689800-16710000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:16690200-16713200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:16695000-16710600	Weak transcription	Stomach Mucosa	stomach
13	chr5:16697200-16711600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:16697400-16711200	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr5:16697400-16711400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:16697800-16711400	Strong transcription	HMEC	breast
17	chr5:16698000-16711400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:16698000-16711400	Strong transcription	Osteobl	bone
19	chr5:16698200-16711400	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr5:16699000-16711400	Strong transcription	Ovary	ovary
21	chr5:16699000-16711400	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr5:16699200-16711400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:16701400-16709200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:16701400-16711200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:16701800-16708600	Weak transcription	Aorta	Aorta
26	chr5:16701800-16709000	Weak transcription	Colonic Mucosa	Colon
27	chr5:16701800-16709200	Weak transcription	Spleen	Spleen
28	chr5:16701800-16709400	Weak transcription	Esophagus	oesophagus
29	chr5:16701800-16711000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr5:16701800-16711600	Strong transcription	Fetal Intestine Large	intestine
31	chr5:16701800-16713400	Weak transcription	Right Ventricle	heart
32	chr5:16702000-16709200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:16702000-16711400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr5:16702200-16709600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr5:16702400-16710800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr5:16702600-16711400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr5:16702600-16711600	Strong transcription	HSMM	muscle
38	chr5:16702800-16708800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr5:16703400-16709200	Weak transcription	Fetal Kidney	kidney
40	chr5:16703400-16709800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:16703600-16711200	Strong transcription	Fetal Brain Female	brain
42	chr5:16703800-16710600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:16703800-16710800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:16703800-16711600	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:16704200-16711600	Strong transcription	NHLF	lung
46	chr5:16704400-16711600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr5:16704600-16711600	Strong transcription	NH-A	brain
48	chr5:16704800-16709200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:16704800-16709200	Weak transcription	Gastric	stomach
50	chr5:16704800-16711200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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