Variant report

Variant	rs4709493
Chromosome Location	chr6:161531006-161531007
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:161512522..161514697-chr6:161530833..161533826,2	K562	blood:
2	chr6:161530149..161531897-chr6:161535661..161538320,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1001809	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11963931	1.00[JPT][hapmap]
rs13194157	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464779	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1464780	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1543261	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1562026	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1982291	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2275925	1.00[JPT][hapmap]
rs2275926	1.00[JPT][hapmap]
rs2872613	0.89[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4472323	0.90[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4559074	1.00[ASN][1000 genomes]
rs4708898	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709486	0.91[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709489	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709490	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709491	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709492	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4709495	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709496	0.91[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs587501	1.00[ASN][1000 genomes]
rs59318594	0.83[AFR][1000 genomes]
rs615269	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs619393	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs628430	1.00[ASN][1000 genomes]
rs628923	1.00[ASN][1000 genomes]
rs6455701	0.90[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455703	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs645718	1.00[ASN][1000 genomes]
rs657551	1.00[ASN][1000 genomes]
rs668638	1.00[ASN][1000 genomes]
rs682110	1.00[ASN][1000 genomes]
rs683549	1.00[ASN][1000 genomes]
rs6900500	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs6902332	1.00[ASN][1000 genomes]
rs6902760	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905942	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913706	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6914092	1.00[JPT][hapmap]
rs6918476	1.00[ASN][1000 genomes]
rs6919831	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6923835	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs6925502	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6925800	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6929462	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6933810	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705829	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs705830	1.00[ASN][1000 genomes]
rs7738762	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7753585	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7760056	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7765098	0.83[AFR][1000 genomes]
rs9346846	0.88[EUR][1000 genomes]
rs9355330	0.90[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9355332	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9355867	0.83[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9355872	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9355873	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9364585	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9364586	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365248	0.91[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9458126	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030045	chr6:161359075-161562255	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1023982	chr6:161382188-161549831	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1030852	chr6:161477750-161589394	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161491000-161538400	Strong transcription	Primary B cells from peripheral blood	blood
2	chr6:161491600-161539800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:161494400-161542400	Strong transcription	Duodenum Mucosa	Duodenum
4	chr6:161495200-161538000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:161496000-161539800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:161497800-161539600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:161498000-161541800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:161499000-161531800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr6:161500200-161540400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:161500600-161539800	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr6:161500600-161541800	Strong transcription	K562	blood
12	chr6:161500800-161538200	Strong transcription	Primary B cells from cord blood	blood
13	chr6:161502600-161531600	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr6:161503200-161532000	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr6:161504800-161531800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr6:161510600-161531600	Weak transcription	Stomach Mucosa	stomach
17	chr6:161510800-161537400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr6:161514000-161544600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:161514400-161539800	Strong transcription	Left Ventricle	heart
20	chr6:161514600-161541000	Strong transcription	Fetal Intestine Large	intestine
21	chr6:161517000-161539600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:161517600-161543000	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr6:161517800-161540400	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:161517800-161542200	Strong transcription	Liver	Liver
25	chr6:161518000-161534800	Strong transcription	Brain Anterior Caudate	brain
26	chr6:161518000-161537200	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr6:161518000-161538200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr6:161518000-161538600	Strong transcription	Fetal Stomach	stomach
29	chr6:161518000-161539600	Strong transcription	Fetal Muscle Leg	muscle
30	chr6:161518000-161540000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr6:161518000-161540800	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr6:161518000-161541400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr6:161518200-161539800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr6:161521600-161539600	Weak transcription	Hela-S3	cervix
35	chr6:161522400-161531600	Strong transcription	Fetal Thymus	thymus
36	chr6:161522400-161542400	Strong transcription	Stomach Smooth Muscle	stomach
37	chr6:161522600-161535400	Strong transcription	HUVEC	blood vessel
38	chr6:161523400-161536200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:161523800-161540800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr6:161524000-161535400	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr6:161524400-161534400	Strong transcription	Psoas Muscle	Psoas
42	chr6:161524400-161540000	Strong transcription	HepG2	liver
43	chr6:161525800-161541200	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr6:161526000-161541200	Strong transcription	Dnd41	blood
45	chr6:161526400-161531800	Strong transcription	Primary T cells from cord blood	blood
46	chr6:161526400-161531800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr6:161526600-161531400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr6:161526600-161540600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr6:161526600-161541400	Strong transcription	Placenta	Placenta
50	chr6:161526600-161542200	Strong transcription	Adipose Nuclei	Adipose

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