Variant report

Variant	rs17075787
Chromosome Location	chr3:43578245-43578246
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:43565394..43567647-chr3:43577685..43579282,2	K562	blood:
2	chr3:43577974..43580770-chr3:43731398..43734604,3	K562	blood:
3	chr3:43572398..43575249-chr3:43575925..43579608,3	K562	blood:

Variant related genes	Relation type
ENSG00000011198	Chromatin interaction
ENSG00000160746	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12496956	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1564614	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1972449	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2888332	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3772164	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3772168	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7632743	0.85[CHB][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	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

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43540000-43582000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:43540200-43602200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:43542800-43588800	Weak transcription	Left Ventricle	heart
4	chr3:43544000-43617600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:43547600-43595800	Weak transcription	Fetal Stomach	stomach
6	chr3:43553000-43601600	Weak transcription	Colon Smooth Muscle	Colon
7	chr3:43553600-43595800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:43554000-43579000	Weak transcription	Fetal Brain Male	brain
9	chr3:43554800-43589400	Weak transcription	HSMMtube	muscle
10	chr3:43556200-43624800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:43558600-43625600	Weak transcription	Lung	lung
12	chr3:43560800-43618000	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:43561200-43601200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr3:43561400-43600400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr3:43561600-43588800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:43561600-43589000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr3:43561600-43590600	Weak transcription	Ovary	ovary
18	chr3:43561600-43601000	Weak transcription	Pancreas	Pancrea
19	chr3:43561800-43590600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:43561800-43602000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:43562000-43589200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr3:43563200-43580000	Weak transcription	HSMM	muscle
23	chr3:43565400-43580000	Weak transcription	Aorta	Aorta
24	chr3:43565400-43583600	Weak transcription	Fetal Intestine Small	intestine
25	chr3:43567000-43583400	Weak transcription	K562	blood
26	chr3:43567200-43583200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr3:43567400-43578600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr3:43568200-43580800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr3:43569600-43587800	Weak transcription	Primary T cells from cord blood	blood
30	chr3:43570200-43580000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr3:43571000-43578800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:43571000-43582000	Weak transcription	Adipose Nuclei	Adipose
33	chr3:43571000-43588000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr3:43571000-43594600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:43571000-43613600	Weak transcription	Gastric	stomach
36	chr3:43573800-43582000	Weak transcription	NHDF-Ad	bronchial
37	chr3:43573800-43596400	Weak transcription	HMEC	breast
38	chr3:43573800-43601400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:43573800-43617800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr3:43574000-43582000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr3:43574000-43582000	Weak transcription	Osteobl	bone
42	chr3:43574600-43578800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr3:43574800-43662400	Weak transcription	Right Ventricle	heart
44	chr3:43575400-43581800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:43576200-43578400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr3:43576200-43586800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:43576200-43601000	Weak transcription	Esophagus	oesophagus
48	chr3:43576200-43623800	Weak transcription	Psoas Muscle	Psoas
49	chr3:43576400-43581400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:43576400-43589000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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