Variant report

Variant	rs4693128
Chromosome Location	chr4:86730714-86730715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs7675429	0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7689056	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7693640	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7699404	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][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	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv879517	chr4:86677107-86739805	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4693128	THAP9	cis	parietal	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86718200-86733800	Weak transcription	Gastric	stomach
2	chr4:86719400-86730800	Weak transcription	Primary B cells from cord blood	blood
3	chr4:86722000-86731400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr4:86727400-86730800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr4:86727800-86735800	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:86728000-86731000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:86728200-86747200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:86728600-86730800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:86728600-86731000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:86728800-86731000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr4:86729000-86734000	Weak transcription	Left Ventricle	heart
12	chr4:86729000-86735600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr4:86729000-86739400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:86729000-86744600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:86729200-86733800	Weak transcription	NH-A	brain
16	chr4:86729200-86736200	Weak transcription	Fetal Stomach	stomach
17	chr4:86729400-86747400	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:86729600-86730800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr4:86729800-86730800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:86729800-86730800	Weak transcription	Pancreas	Pancrea
21	chr4:86729800-86731000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr4:86729800-86731200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:86729800-86733600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:86729800-86733600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr4:86729800-86733800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:86729800-86734000	Weak transcription	Right Atrium	heart
27	chr4:86729800-86734800	Weak transcription	Fetal Kidney	kidney
28	chr4:86729800-86743600	Weak transcription	HSMMtube	muscle
29	chr4:86729800-86744600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:86730000-86730800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:86730000-86731000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:86730000-86733400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:86730000-86733800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:86730200-86731600	Enhancers	HUVEC	blood vessel
35	chr4:86730200-86733600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:86730200-86733600	Weak transcription	Osteobl	bone
37	chr4:86730200-86741400	Weak transcription	HSMM	muscle
38	chr4:86730400-86730800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr4:86730400-86733600	Weak transcription	NHDF-Ad	bronchial
40	chr4:86730600-86730800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:86730600-86731800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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