Variant report

Variant	rs308338
Chromosome Location	chr11:67776242-67776243
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	ELF1	chr11:67775991-67776838	GM12878	blood:	n/a	chr11:67776656-67776667 chr11:67776234-67776246 chr11:67776654-67776667
2	USF1	chr11:67775788-67776301	ECC-1	luminal epithelium:	n/a	chr11:67776025-67776036 chr11:67776012-67776023
3	POLR2A	chr11:67775677-67777044	HL-60	blood:	n/a	n/a
4	SPI1	chr11:67776174-67777004	HL-60	blood:	n/a	chr11:67776655-67776668 chr11:67776631-67776644
5	USF1	chr11:67775748-67776290	ECC-1	luminal epithelium:	n/a	chr11:67776025-67776036 chr11:67776012-67776023
6	USF1	chr11:67775719-67776295	A549	lung:	n/a	chr11:67776025-67776036 chr11:67776012-67776023
7	NFIC	chr11:67775658-67776272	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr11:67775696-67776963	A549	lung:	n/a	chr11:67776499-67776510 chr11:67776500-67776509 chr11:67776025-67776036 chr11:67776182-67776192 chr11:67776026-67776035 chr11:67776026-67776035
9	SMARCB1	chr11:67775592-67776746	Hela-S3	cervix:	n/a	n/a
10	MAX	chr11:67775570-67783343	A549	lung:	n/a	chr11:67776499-67776510 chr11:67776500-67776509 chr11:67776025-67776036 chr11:67779790-67779800 chr11:67776182-67776192 chr11:67776026-67776035 chr11:67776026-67776035
11	ZEB1	chr11:67776140-67776481	GM12878	blood:	n/a	chr11:67776320-67776329 chr11:67776396-67776407
12	POLR2A	chr11:67775950-67776837	Raji	blood:	n/a	n/a
13	POLR2A	chr11:67775714-67776984	HL-60	blood:	n/a	n/a
14	TCF3	chr11:67776136-67776510	GM12878	blood:	n/a	chr11:67776442-67776456
15	POLR2A	chr11:67775887-67778680	PBDE	blood:	n/a	n/a
16	TCF12	chr11:67775698-67783378	A549	lung:	n/a	chr11:67782099-67782109 chr11:67782990-67783000 chr11:67782981-67782991 chr11:67782696-67782706 chr11:67776259-67776269
17	MAX	chr11:67775841-67776298	Hela-S3	cervix:	n/a	chr11:67776025-67776036 chr11:67776182-67776192 chr11:67776026-67776035 chr11:67776026-67776035
18	USF1	chr11:67775755-67776268	A549	lung:	n/a	chr11:67776025-67776036 chr11:67776012-67776023
19	MAZ	chr11:67775829-67776347	Hela-S3	cervix:	n/a	chr11:67776025-67776036 chr11:67776182-67776192 chr11:67776026-67776035 chr11:67776026-67776035

No.	Distal block	Cell Line	Cell type
1	chr11:67776209..67777895-chr11:67887404..67889163,2	K562	blood:
2	chr11:67776156..67776785-chr11:67788500..67789123,2	MCF-7	breast:
3	chr11:67774356..67776475-chr11:67979797..67981596,2	MCF-7	breast:
4	chr11:67762444..67764941-chr11:67774417..67777074,2	K562	blood:
5	chr11:67770463..67774040-chr11:67774088..67778740,6	K562	blood:
6	chr11:67770966..67773282-chr11:67774269..67777181,2	K562	blood:

Variant related genes	Relation type
UNC93B1	TF binding region
ALDH3B1	TF binding region
ENSG00000110721	Chromatin interaction
ENSG00000110057	Chromatin interaction
ENSG00000110066	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs105147	0.85[ASW][hapmap];0.85[CEU][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs10896288	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs1636207	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs308328	0.86[JPT][hapmap]
rs308342	0.81[EUR][1000 genomes]
rs4646809	0.94[EUR][1000 genomes]
rs572574	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs581105	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs598156	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036101	chr11:67346813-67828351	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv541079	chr11:67346813-67828351	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
3	nsv468606	chr11:67352689-67816936	Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv555269	chr11:67352689-67816936	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	nsv427892	chr11:67451649-67926562	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
6	esv2757450	chr11:67472905-67891289	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
7	esv2759835	chr11:67472905-67891289	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
8	nsv428260	chr11:67524937-67797669	Enhancers Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
9	esv2758275	chr11:67524937-67859490	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
10	nsv469856	chr11:67639037-67859490	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
11	nsv482760	chr11:67639037-67859490	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
12	nsv1038960	chr11:67727827-67785555	Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
13	nsv1047567	chr11:67747160-67819790	Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
14	nsv8836	chr11:67752879-67819799	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
15	nsv983037	chr11:67756642-67778389	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
16	nsv897836	chr11:67757350-67816936	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
17	nsv897837	chr11:67757350-67821036	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
18	nsv897838	chr11:67757350-67833543	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
19	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
20	nsv1050471	chr11:67764068-67821610	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
21	nsv897839	chr11:67765056-67793014	Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
22	nsv468613	chr11:67765056-67794643	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
23	nsv555277	chr11:67765056-67794643	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
24	nsv468614	chr11:67765056-67799926	ZNF genes & repeats Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
25	nsv897840	chr11:67765056-67804605	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
26	nsv468615	chr11:67765056-67816936	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
27	nsv555278	chr11:67765056-67816936	Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
28	nsv897841	chr11:67765056-67816936	Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
29	nsv469964	chr11:67765056-67821036	Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
30	nsv897842	chr11:67765056-67821036	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
31	nsv897843	chr11:67765056-67833543	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
32	nsv1046054	chr11:67768796-67819790	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	60 gene(s)	inside rSNPs	diseases
33	nsv897844	chr11:67772729-67793014	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
34	nsv897845	chr11:67774231-67821036	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs308338	ALDH3B1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67771600-67777200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:67771600-67797600	Weak transcription	Small Intestine	intestine
3	chr11:67772000-67776400	Weak transcription	Brain Angular Gyrus	brain
4	chr11:67772000-67776400	Weak transcription	Ovary	ovary
5	chr11:67772000-67776600	Weak transcription	Right Atrium	heart
6	chr11:67772000-67776600	Weak transcription	NH-A	brain
7	chr11:67772000-67776600	Weak transcription	NHDF-Ad	bronchial
8	chr11:67772000-67776800	Weak transcription	Osteobl	bone
9	chr11:67772000-67777000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:67772000-67777200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:67772200-67776400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:67772200-67776400	Weak transcription	Fetal Lung	lung
13	chr11:67772200-67776400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:67772200-67776600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:67772200-67776800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:67772200-67776800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr11:67772200-67776800	Weak transcription	Colon Smooth Muscle	Colon
18	chr11:67772200-67777000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:67772200-67777000	Weak transcription	HUVEC	blood vessel
20	chr11:67772200-67777200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:67772200-67777200	Weak transcription	Left Ventricle	heart
22	chr11:67772200-67777400	Weak transcription	NHLF	lung
23	chr11:67772200-67777800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:67772200-67779200	Enhancers	Primary B cells from peripheral blood	blood
25	chr11:67772400-67777400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr11:67772600-67776400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr11:67772600-67777400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:67772600-67792400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:67772800-67776600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:67772800-67777200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:67772800-67777200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr11:67772800-67777200	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr11:67772800-67777800	Weak transcription	Lung	lung
34	chr11:67773400-67776400	Enhancers	A549	lung
35	chr11:67773600-67777800	Enhancers	Stomach Mucosa	stomach
36	chr11:67774200-67776400	Weak transcription	K562	blood
37	chr11:67774600-67776400	Weak transcription	GM12878-XiMat	blood
38	chr11:67774600-67776600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:67775000-67777600	Enhancers	Fetal Muscle Leg	muscle
40	chr11:67775000-67782400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr11:67775200-67777200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:67775200-67777400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:67775200-67777400	Enhancers	Placenta	Placenta
44	chr11:67775200-67777600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr11:67775200-67777800	Enhancers	Pancreas	Pancrea
46	chr11:67775400-67777000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:67775400-67777400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:67775400-67777400	Enhancers	Fetal Intestine Large	intestine
49	chr11:67775400-67777400	Enhancers	Fetal Intestine Small	intestine
50	chr11:67775400-67777600	Enhancers	Adipose Nuclei	Adipose

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