Variant report

Variant	rs1001756
Chromosome Location	chr6:161526507-161526508
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:161525695-161526841	K562	blood:	n/a	n/a
2	STAT3	chr6:161526440-161526780	MCF10A-Er-Src	breast:	n/a	chr6:161526599-161526610
3	MAFK	chr6:161526371-161526663	HepG2	liver:	n/a	n/a
4	FOS	chr6:161526115-161526741	MCF10A-Er-Src	breast:	n/a	chr6:161526255-161526262 chr6:161526254-161526262 chr6:161526253-161526262
5	STAT3	chr6:161526330-161526778	MCF10A-Er-Src	breast:	n/a	chr6:161526599-161526610
6	MAFF	chr6:161526426-161526669	K562	blood:	n/a	n/a
7	FOS	chr6:161526208-161526706	MCF10A-Er-Src	breast:	n/a	chr6:161526255-161526262 chr6:161526254-161526262 chr6:161526253-161526262
8	MAFF	chr6:161526367-161526594	HepG2	liver:	n/a	n/a
9	MAFK	chr6:161526338-161526648	IMR90	lung:	n/a	n/a
10	E2F4	chr6:161526228-161526623	MCF10A-Er-Src	breast:	n/a	n/a
11	MAFK	chr6:161526346-161526683	HepG2	liver:	n/a	n/a
12	STAT1	chr6:161526347-161526881	Hela-S3	cervix:	n/a	chr6:161526561-161526572 chr6:161526599-161526610
13	FOS	chr6:161526122-161526512	MCF10A-Er-Src	breast:	n/a	chr6:161526255-161526262 chr6:161526254-161526262 chr6:161526253-161526262
14	STAT3	chr6:161526418-161526771	MCF10A-Er-Src	breast:	n/a	chr6:161526599-161526610
15	FOS	chr6:161526113-161526721	MCF10A-Er-Src	breast:	n/a	chr6:161526255-161526262 chr6:161526254-161526262 chr6:161526253-161526262

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:161523685..161528183-chr6:161528584..161533736,8	K562	blood:

Variant related genes	Relation type
MAP3K4	TF binding region
ENSG00000085511	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1001421	1.00[CHB][hapmap]
rs1001422	1.00[CHB][hapmap]
rs11751634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11751688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11751843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11753446	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11755042	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11755244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11757223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11757309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757882	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs11758794	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759000	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759408	1.00[CHB][hapmap];0.87[AMR][1000 genomes]
rs11962121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs12110827	1.00[CHB][hapmap]
rs1404269	1.00[CHB][hapmap]
rs1464781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1534020	1.00[CHB][hapmap]
rs1562025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs1807426	1.00[CHB][hapmap]
rs2009830	1.00[CHB][hapmap]
rs2314190	1.00[CHB][hapmap]
rs2314376	1.00[CHB][hapmap]
rs2314377	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778225	1.00[CHB][hapmap]
rs3798916	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823057	1.00[CHB][hapmap]
rs41268545	0.87[AMR][1000 genomes]
rs55799452	0.87[AMR][1000 genomes]
rs57922639	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58040353	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59129068	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59318837	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905734	1.00[CHB][hapmap]
rs6907956	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922534	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6940321	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs719474	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7738423	0.90[EUR][1000 genomes]
rs7754215	1.00[CHB][hapmap]
rs9365245	1.00[CHB][hapmap]
rs9456635	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9456636	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9458121	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9458135	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9458141	1.00[CHB][hapmap]

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:126 , 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	chr6:161491600-161528800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr6:161491600-161529000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr6:161491600-161539800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:161494400-161542400	Strong transcription	Duodenum Mucosa	Duodenum
6	chr6:161495200-161538000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:161496000-161539800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:161497800-161539600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:161498000-161541800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:161499000-161531800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr6:161500200-161540400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:161500600-161539800	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr6:161500600-161541800	Strong transcription	K562	blood
14	chr6:161500800-161538200	Strong transcription	Primary B cells from cord blood	blood
15	chr6:161502600-161531600	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr6:161503200-161532000	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr6:161504800-161531800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr6:161505000-161528200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr6:161505800-161529800	Weak transcription	Fetal Brain Male	brain
20	chr6:161509400-161528000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:161510600-161529000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:161510600-161531600	Weak transcription	Stomach Mucosa	stomach
23	chr6:161510800-161537400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr6:161512600-161528200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:161514000-161544600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:161514400-161539800	Strong transcription	Left Ventricle	heart
27	chr6:161514600-161541000	Strong transcription	Fetal Intestine Large	intestine
28	chr6:161515400-161527600	Weak transcription	Brain Hippocampus Middle	brain
29	chr6:161515400-161528400	Weak transcription	Brain Angular Gyrus	brain
30	chr6:161517000-161539600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:161517600-161543000	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr6:161517800-161540400	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr6:161517800-161542200	Strong transcription	Liver	Liver
34	chr6:161518000-161534800	Strong transcription	Brain Anterior Caudate	brain
35	chr6:161518000-161537200	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr6:161518000-161538200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:161518000-161538600	Strong transcription	Fetal Stomach	stomach
38	chr6:161518000-161539600	Strong transcription	Fetal Muscle Leg	muscle
39	chr6:161518000-161540000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr6:161518000-161540800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr6:161518000-161541400	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr6:161518200-161539800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr6:161519600-161528800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr6:161519800-161526600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr6:161519800-161527600	Weak transcription	Brain Substantia Nigra	brain
46	chr6:161519800-161530800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr6:161520200-161528000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr6:161520400-161527600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr6:161520800-161527600	Weak transcription	Small Intestine	intestine
50	chr6:161521200-161527600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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