Variant report

Variant	rs4985751
Chromosome Location	chr17:17120613-17120614
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16961505	1.00[AFR][1000 genomes]
rs4985722	1.00[AFR][1000 genomes]

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	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065811	chr17:17104760-17225204	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17109400-17131600	Weak transcription	Fetal Heart	heart
2	chr17:17109600-17124200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:17109800-17123200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr17:17110000-17121000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr17:17113200-17135200	Strong transcription	Fetal Intestine Small	intestine
6	chr17:17113200-17136600	Strong transcription	Fetal Stomach	stomach
7	chr17:17113400-17131400	Strong transcription	Brain Anterior Caudate	brain
8	chr17:17113400-17131400	Strong transcription	Brain Substantia Nigra	brain
9	chr17:17113400-17134600	Strong transcription	Fetal Muscle Trunk	muscle
10	chr17:17113400-17136200	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr17:17113800-17134600	Strong transcription	Fetal Muscle Leg	muscle
12	chr17:17113800-17137600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr17:17114000-17122600	Strong transcription	A549	lung
14	chr17:17114000-17131200	Strong transcription	Liver	Liver
15	chr17:17114000-17131200	Strong transcription	Left Ventricle	heart
16	chr17:17114000-17134800	Strong transcription	Fetal Intestine Large	intestine
17	chr17:17114000-17135200	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr17:17114000-17136200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr17:17114000-17136200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr17:17114000-17136400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr17:17114000-17136400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:17114000-17136400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr17:17114000-17136400	Strong transcription	Placenta	Placenta
24	chr17:17114000-17136600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr17:17114200-17131600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr17:17114200-17131600	Strong transcription	Spleen	Spleen
27	chr17:17114200-17136600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr17:17114400-17131400	Strong transcription	Lung	lung
29	chr17:17114400-17136200	Strong transcription	Primary T cells from cord blood	blood
30	chr17:17114400-17136200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr17:17114400-17136400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr17:17114400-17136600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr17:17114600-17121000	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr17:17114600-17121600	Strong transcription	Primary B cells from cord blood	blood
35	chr17:17114600-17134800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr17:17114600-17136000	Strong transcription	Fetal Brain Female	brain
37	chr17:17114600-17136200	Strong transcription	NHLF	lung
38	chr17:17114600-17136400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr17:17114600-17136400	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr17:17114600-17136400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr17:17114600-17136400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr17:17114600-17136400	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr17:17114600-17136400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr17:17114600-17136600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr17:17114800-17131800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr17:17114800-17136400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr17:17114800-17136400	Strong transcription	Osteobl	bone
48	chr17:17115000-17136200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr17:17115000-17136200	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr17:17115200-17139600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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