Variant report

Variant	rs12641030
Chromosome Location	chr4:57803505-57803506
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11133469	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12501990	0.81[AMR][1000 genomes]
rs13108570	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13130605	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6830501	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6830774	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7680140	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7680734	0.80[AMR][1000 genomes]
rs7697176	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv3425352	chr4:57783591-57820951	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57777600-57805600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:57777600-57806000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:57779000-57804600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:57780800-57808200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:57793600-57842000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:57793600-57842000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:57797600-57805400	Weak transcription	Brain Germinal Matrix	brain
8	chr4:57797600-57805400	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:57797600-57807000	Weak transcription	Gastric	stomach
10	chr4:57797600-57811800	Weak transcription	Stomach Mucosa	stomach
11	chr4:57797800-57803600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:57798000-57805800	Weak transcription	Fetal Brain Female	brain
13	chr4:57798000-57806000	Weak transcription	Brain Substantia Nigra	brain
14	chr4:57798000-57806400	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:57798000-57809400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr4:57798000-57814200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:57798200-57803600	Weak transcription	Lung	lung
18	chr4:57798200-57803600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr4:57798200-57803600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr4:57798200-57803600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr4:57798200-57804800	Weak transcription	Right Ventricle	heart
22	chr4:57798200-57805600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:57798200-57805600	Weak transcription	Brain Anterior Caudate	brain
24	chr4:57798200-57809600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:57798200-57811800	Weak transcription	Esophagus	oesophagus
26	chr4:57798200-57828400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr4:57798200-57829600	Weak transcription	Pancreas	Pancrea
28	chr4:57798400-57803600	Weak transcription	NH-A	brain
29	chr4:57798400-57803800	Weak transcription	Left Ventricle	heart
30	chr4:57798400-57805800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr4:57798400-57806000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr4:57798400-57806400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr4:57798400-57808200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr4:57798400-57810800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:57798400-57811800	Weak transcription	Fetal Kidney	kidney
36	chr4:57798400-57814000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:57798400-57828200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr4:57798600-57803600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr4:57798600-57828200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr4:57799400-57808600	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr4:57799800-57805800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:57799800-57807400	Weak transcription	Small Intestine	intestine
43	chr4:57799800-57809000	Weak transcription	HepG2	liver
44	chr4:57800000-57803600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:57800000-57805600	Weak transcription	GM12878-XiMat	blood
46	chr4:57800000-57807200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:57800200-57803600	Weak transcription	Primary B cells from cord blood	blood
48	chr4:57800200-57811000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr4:57800400-57805600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr4:57800400-57809400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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