Variant report

Variant	rs17075812
Chromosome Location	chr3:43589073-43589074
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:43587624..43589880-chr3:43590753..43592706,2	K562	blood:
2	chr3:43588935..43590972-chr3:43733450..43736043,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17075726	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17075840	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2068969	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62250946	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428738	chr3:43491435-43651168	Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv822067	chr3:43584576-43592360	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv822068	chr3:43584795-43592360	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv822069	chr3:43585009-43592360	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv822070	chr3:43585009-43596684	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv820135	chr3:43585311-43594452	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43540200-43602200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:43544000-43617600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:43547600-43595800	Weak transcription	Fetal Stomach	stomach
4	chr3:43553000-43601600	Weak transcription	Colon Smooth Muscle	Colon
5	chr3:43553600-43595800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:43554800-43589400	Weak transcription	HSMMtube	muscle
7	chr3:43556200-43624800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:43558600-43625600	Weak transcription	Lung	lung
9	chr3:43560800-43618000	Weak transcription	Brain Hippocampus Middle	brain
10	chr3:43561200-43601200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:43561400-43600400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr3:43561600-43590600	Weak transcription	Ovary	ovary
13	chr3:43561600-43601000	Weak transcription	Pancreas	Pancrea
14	chr3:43561800-43590600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:43561800-43602000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr3:43562000-43589200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr3:43571000-43594600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:43571000-43613600	Weak transcription	Gastric	stomach
19	chr3:43573800-43596400	Weak transcription	HMEC	breast
20	chr3:43573800-43601400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:43573800-43617800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:43574800-43662400	Weak transcription	Right Ventricle	heart
23	chr3:43576200-43601000	Weak transcription	Esophagus	oesophagus
24	chr3:43576200-43623800	Weak transcription	Psoas Muscle	Psoas
25	chr3:43576400-43613600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:43576400-43621200	Weak transcription	NHEK	skin
27	chr3:43577000-43590800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:43577200-43595400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:43577400-43590600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:43577600-43625400	Weak transcription	HUVEC	blood vessel
31	chr3:43577800-43595000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:43578200-43599800	Weak transcription	Fetal Brain Female	brain
33	chr3:43578400-43593400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr3:43579000-43589200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr3:43579000-43590400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:43579000-43594600	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr3:43579200-43590800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr3:43579200-43600200	Weak transcription	Liver	Liver
39	chr3:43580600-43647600	Weak transcription	Brain Angular Gyrus	brain
40	chr3:43580800-43613800	Weak transcription	Aorta	Aorta
41	chr3:43581800-43590600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:43581800-43594800	Weak transcription	Fetal Muscle Leg	muscle
43	chr3:43581800-43601400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr3:43582000-43590000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr3:43582000-43601600	Weak transcription	HepG2	liver
46	chr3:43582200-43590200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr3:43582200-43590600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr3:43582200-43600600	Weak transcription	Placenta	Placenta
49	chr3:43582400-43590000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr3:43582400-43590600	Weak transcription	H1 Cell Line	embryonic stem cell

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