Variant report

Variant	rs939105
Chromosome Location	chr11:45949534-45949535
allele	C/T
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	chr11:45948898-45950704	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:45948970-45950603	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:45948868-45950364	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr11:45949410-45950467	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:45948892-45954354	K562	blood:	n/a	n/a
6	POLR2A	chr11:45949496-45950496	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr11:45949260-45950505	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:45948511-45950651	A549	lung:	n/a	n/a
9	POLR2A	chr11:45948795-45950556	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:45949479-45950065	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:45949414-45949627	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45948094..45950923-chr11:45957515..45959352,2	K562	blood:

Variant related genes	Relation type
GYLTL1B	TF binding region
ENSG00000135365	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10838551	0.80[MEX][hapmap]
rs10838559	0.80[MEX][hapmap]
rs10838564	0.95[MEX][hapmap]
rs10838566	0.85[MEX][hapmap]
rs10838567	0.85[MEX][hapmap]
rs11038761	0.80[MEX][hapmap]
rs3736508	0.81[MEX][hapmap]
rs3929339	0.90[MEX][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	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1047462	chr11:45898630-45953696	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1794798	chr11:45903280-45953636	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv1805505	chr11:45912324-45956109	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45941200-45953400	Weak transcription	Dnd41	blood
2	chr11:45944800-45951800	Weak transcription	Aorta	Aorta
3	chr11:45944800-45955200	Weak transcription	Ovary	ovary
4	chr11:45945000-45953200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:45945200-45950800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:45945200-45951000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:45945200-45952600	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:45945200-45953000	Weak transcription	Brain Anterior Caudate	brain
9	chr11:45945200-45953200	Weak transcription	Liver	Liver
10	chr11:45945200-45954400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:45945200-45955000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:45945200-45955200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:45945200-45969400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:45945400-45950400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr11:45946000-45950800	Genic enhancers	Primary B cells from peripheral blood	blood
16	chr11:45946000-45951400	Weak transcription	K562	blood
17	chr11:45946200-45950400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:45946200-45950600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:45946200-45950800	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr11:45946200-45950800	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr11:45946400-45953000	Weak transcription	Right Atrium	heart
22	chr11:45946600-45950000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:45946600-45952200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:45946800-45952200	Weak transcription	Fetal Brain Female	brain
25	chr11:45947000-45951600	Weak transcription	Brain Germinal Matrix	brain
26	chr11:45947200-45950200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:45947400-45950400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:45947400-45950600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:45947400-45953600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:45947600-45950200	Strong transcription	Pancreas	Pancrea
31	chr11:45947600-45950400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:45947600-45950600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:45947600-45950800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:45947600-45951400	Strong transcription	Fetal Intestine Small	intestine
35	chr11:45947600-45952000	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr11:45947600-45953000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:45947600-45953200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:45947800-45950200	Strong transcription	Gastric	stomach
39	chr11:45947800-45950400	Genic enhancers	Primary B cells from cord blood	blood
40	chr11:45947800-45951400	Weak transcription	Thymus	Thymus
41	chr11:45947800-45951600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr11:45947800-45952600	Enhancers	Placenta	Placenta
43	chr11:45947800-45952800	Weak transcription	Colon Smooth Muscle	Colon
44	chr11:45948000-45949600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr11:45948000-45950400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:45948200-45950600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr11:45948200-45951200	Enhancers	Primary T cells fromperipheralblood	blood
48	chr11:45948200-45951400	Weak transcription	Lung	lung
49	chr11:45948200-45954800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:45948400-45949600	Weak transcription	Esophagus	oesophagus

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