Variant report

Variant	rs4985782
Chromosome Location	chr17:16929508-16929509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:16922760..16926151-chr17:16927403..16930298,5	K562	blood:
2	chr17:16924719..16926363-chr17:16928237..16932446,3	MCF-7	breast:
3	chr17:16922760..16925384-chr17:16927836..16930121,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10852842	0.83[YRI][hapmap]
rs4452010	0.92[CEU][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes]
rs4485423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4985780	0.83[YRI][hapmap]
rs72637385	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72637386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058863	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv543227	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv907727	chr17:16892265-16938582	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv543231	chr17:16926227-16950644	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16918800-16930800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr17:16925000-16930800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr17:16925200-16930600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr17:16925200-16931000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr17:16925400-16930800	Weak transcription	NH-A	brain
6	chr17:16925400-16931000	Enhancers	A549	lung
7	chr17:16925600-16930800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr17:16925600-16930800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr17:16925600-16931800	Weak transcription	Osteobl	bone
10	chr17:16925800-16930600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr17:16925800-16930800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr17:16926000-16930600	Weak transcription	Esophagus	oesophagus
13	chr17:16926000-16930600	Weak transcription	HMEC	breast
14	chr17:16926000-16930800	Weak transcription	Colonic Mucosa	Colon
15	chr17:16926000-16930800	Weak transcription	Spleen	Spleen
16	chr17:16926000-16931400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:16926200-16930800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr17:16926600-16931400	Weak transcription	Brain Angular Gyrus	brain
19	chr17:16926600-16931400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr17:16926800-16930800	Weak transcription	Brain Anterior Caudate	brain
21	chr17:16926800-16930800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr17:16926800-16931200	Weak transcription	Brain Substantia Nigra	brain
23	chr17:16927800-16929600	Enhancers	Fetal Heart	heart
24	chr17:16928000-16929800	Enhancers	Fetal Muscle Leg	muscle
25	chr17:16928000-16929800	Enhancers	Pancreas	Pancrea
26	chr17:16928000-16930000	Enhancers	Fetal Muscle Trunk	muscle
27	chr17:16928000-16930600	Enhancers	Hela-S3	cervix
28	chr17:16928200-16929600	Enhancers	HepG2	liver
29	chr17:16928200-16930000	Enhancers	Stomach Mucosa	stomach
30	chr17:16928400-16929800	Enhancers	Fetal Lung	lung
31	chr17:16928400-16930800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr17:16928600-16931800	Weak transcription	Adipose Nuclei	Adipose
33	chr17:16928600-16933800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr17:16928800-16930800	Weak transcription	Brain Hippocampus Middle	brain
35	chr17:16928800-16934000	Enhancers	Fetal Intestine Large	intestine
36	chr17:16929000-16930600	Weak transcription	Gastric	stomach
37	chr17:16929000-16931400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr17:16929000-16931400	Weak transcription	Right Ventricle	heart
39	chr17:16929000-16931400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr17:16929000-16931600	Weak transcription	Right Atrium	heart
41	chr17:16929200-16930600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr17:16929200-16930800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr17:16929200-16931600	Weak transcription	Left Ventricle	heart
44	chr17:16929400-16930400	Weak transcription	Fetal Intestine Small	intestine
45	chr17:16929400-16930400	Weak transcription	Placenta	Placenta
46	chr17:16929400-16930600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr17:16929400-16930600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr17:16929400-16930600	Weak transcription	HSMMtube	muscle
49	chr17:16929400-16930600	Weak transcription	NHEK	skin
50	chr17:16929400-16930800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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