Variant report

Variant	rs4897252
Chromosome Location	chr6:128536730-128536731
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1012049	0.88[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs10485160	0.83[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs11961542	0.83[ASN][1000 genomes]
rs12055654	0.84[ASN][1000 genomes]
rs1543376	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17055441	0.94[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17055472	0.83[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs17055477	0.82[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs1738288	1.00[CEU][hapmap]
rs2076572	0.83[ASN][1000 genomes]
rs3813371	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3813372	0.93[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs3813373	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4140541	0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs4243494	0.94[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4364497	0.85[YRI][hapmap]
rs4421217	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4483000	1.00[MEX][hapmap]
rs61583694	0.83[ASN][1000 genomes]
rs6928143	0.83[CHB][hapmap];0.80[CHD][hapmap];0.84[JPT][hapmap];0.91[LWK][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6933029	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6938118	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs730202	0.89[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs73590673	0.84[ASN][1000 genomes]
rs742736	0.83[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs7753945	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7755836	0.83[CHB][hapmap];0.84[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7773849	0.83[CHB][hapmap];0.84[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9321113	0.83[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs9372885	1.00[CEU][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9372886	0.83[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs9375550	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9375551	0.91[ASN][1000 genomes]
rs9375552	0.94[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9375553	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs9375555	0.83[CHB][hapmap];0.82[CHD][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs9375556	0.82[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs9375557	0.84[ASN][1000 genomes]
rs9375558	0.83[ASN][1000 genomes]
rs9385455	0.82[ASN][1000 genomes]
rs9388618	0.90[ASN][1000 genomes]
rs9388619	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9388621	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9388622	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9388623	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs9388625	0.84[ASN][1000 genomes]
rs9388626	0.83[CHB][hapmap];0.84[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9388627	0.83[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs9398865	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs9398866	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9398868	0.83[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs9402023	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs9402024	0.83[CHB][hapmap];0.84[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9402029	0.82[ASN][1000 genomes]
rs9402030	0.83[CHB][hapmap];0.82[CHD][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs9402032	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9491913	0.81[YRI][hapmap]
rs9784773	0.82[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs9784880	0.88[CHB][hapmap];0.83[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv604647	chr6:128421762-128547177	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv886651	chr6:128450019-128565778	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv886653	chr6:128455539-128555805	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv886654	chr6:128471938-128555805	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 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	chr6:128488200-128565200	Weak transcription	Fetal Stomach	stomach
2	chr6:128492600-128567800	Weak transcription	Ovary	ovary
3	chr6:128503200-128541800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:128505800-128538800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:128505800-128552200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:128506000-128561000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr6:128520400-128536800	Weak transcription	Fetal Intestine Large	intestine
8	chr6:128520400-128573800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:128522000-128560800	Weak transcription	Primary T cells from cord blood	blood
10	chr6:128523800-128538200	Weak transcription	Fetal Thymus	thymus
11	chr6:128523800-128540600	Weak transcription	Lung	lung
12	chr6:128523800-128543600	Weak transcription	Left Ventricle	heart
13	chr6:128525200-128539000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:128526800-128541200	Weak transcription	Adipose Nuclei	Adipose
15	chr6:128527000-128543600	Weak transcription	Fetal Intestine Small	intestine
16	chr6:128527600-128561000	Weak transcription	Esophagus	oesophagus
17	chr6:128528200-128558400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr6:128528400-128561000	Weak transcription	Fetal Brain Male	brain
19	chr6:128529000-128538000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr6:128529400-128538200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:128529400-128552600	Weak transcription	Small Intestine	intestine
22	chr6:128529600-128538200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:128529800-128561000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr6:128530000-128539200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:128530000-128542000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:128531000-128539200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:128531000-128539800	Weak transcription	NHDF-Ad	bronchial
28	chr6:128531000-128550600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr6:128531000-128562400	Weak transcription	Aorta	Aorta
30	chr6:128531200-128538200	Weak transcription	HSMM	muscle
31	chr6:128531200-128540400	Weak transcription	Pancreas	Pancrea
32	chr6:128531200-128554600	Weak transcription	Right Ventricle	heart
33	chr6:128531200-128562400	Weak transcription	HSMMtube	muscle
34	chr6:128531200-128567800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:128531200-128573800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:128531400-128538000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:128531400-128538600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:128531400-128539000	Weak transcription	HMEC	breast
39	chr6:128531400-128539200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:128531400-128539800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:128531400-128543200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr6:128531400-128553600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr6:128531800-128538600	Weak transcription	NH-A	brain
44	chr6:128532000-128538200	Weak transcription	Liver	Liver
45	chr6:128532000-128545600	Weak transcription	NHEK	skin
46	chr6:128532000-128554400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:128532000-128561000	Weak transcription	Osteobl	bone
48	chr6:128532200-128553200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:128532400-128539400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr6:128532400-128540000	Weak transcription	HUVEC	blood vessel

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