Variant report

Variant	rs11235471
Chromosome Location	chr11:71938085-71938086
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:71937633-71938332	K562	blood:	n/a	n/a
2	POLR2A	chr11:71937613-71938260	GM12878	blood:	n/a	n/a
3	HEY1	chr11:71937739-71938088	K562	blood:	n/a	n/a
4	POLR2A	chr11:71937712-71938307	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:71937435-71938136	K562	blood:	n/a	n/a
6	POLR2A	chr11:71937771-71939619	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:71937494-71944480	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:71937836-71940183	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:71937939-71938146	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:71938015-71939705	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:71937645-71939695	K562	blood:	n/a	n/a
12	POLR2A	chr11:71937701-71939876	K562	blood:	n/a	n/a
13	POLR2A	chr11:71938010-71939754	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:71937777-71938322	GM12892	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71822594..71824677-chr11:71937330..71938993,2	MCF-7	breast:
2	chr11:71936774..71938727-chr11:71967262..71969274,2	MCF-7	breast:
3	chr11:71927693..71930362-chr11:71935799..71938358,2	MCF-7	breast:
4	chr11:71938045..71940787-chr11:72145330..72147281,2	K562	blood:
5	chr11:71899258..71901849-chr11:71937862..71940065,2	MCF-7	breast:
6	chr11:71822132..71825937-chr11:71933388..71938158,5	MCF-7	breast:

No data

Variant related genes	Relation type
INPPL1	TF binding region
ENSG00000110195	Chromatin interaction
ENSG00000162129	Chromatin interaction
ENSG00000110200	Chromatin interaction
ENSG00000165457	Chromatin interaction
ENSG00000110203	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10082673	1.00[AFR][1000 genomes]
rs11235469	1.00[LWK][hapmap]
rs11235481	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11235498	1.00[EUR][1000 genomes]
rs12270774	1.00[EUR][1000 genomes]
rs12273286	1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12274817	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs12285652	1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12291899	1.00[EUR][1000 genomes]
rs34175433	1.00[EUR][1000 genomes]
rs35803854	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv897908	chr11:71927468-71956890	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv897909	chr11:71927468-71960554	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71936800-71938200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:71936800-71938200	Enhancers	Left Ventricle	heart
3	chr11:71937000-71938200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:71937000-71938200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr11:71937000-71938200	Weak transcription	Liver	Liver
6	chr11:71937000-71938200	Weak transcription	Brain Substantia Nigra	brain
7	chr11:71937000-71938400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:71937000-71938400	Weak transcription	Colonic Mucosa	Colon
9	chr11:71937000-71938600	Weak transcription	Esophagus	oesophagus
10	chr11:71937000-71938600	Weak transcription	Fetal Brain Male	brain
11	chr11:71937000-71938600	Weak transcription	Gastric	stomach
12	chr11:71937000-71938600	Weak transcription	Right Ventricle	heart
13	chr11:71937000-71938600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:71937000-71938800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:71937000-71938800	Enhancers	Fetal Heart	heart
16	chr11:71937000-71938800	Enhancers	Fetal Thymus	thymus
17	chr11:71937000-71939000	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr11:71937000-71939000	Genic enhancers	Fetal Intestine Small	intestine
19	chr11:71937000-71939000	Weak transcription	Ovary	ovary
20	chr11:71937000-71939000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr11:71937000-71939200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:71937000-71939200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr11:71937000-71939200	Enhancers	Rectal Smooth Muscle	rectum
24	chr11:71937000-71939200	Genic enhancers	Stomach Smooth Muscle	stomach
25	chr11:71937000-71939200	Enhancers	HMEC	breast
26	chr11:71937000-71939400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:71937000-71939400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr11:71937000-71939400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr11:71937000-71939400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:71937000-71939400	Weak transcription	Primary T cells from cord blood	blood
31	chr11:71937000-71939400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr11:71937000-71939400	Genic enhancers	Fetal Stomach	stomach
33	chr11:71937000-71939600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:71937000-71940000	Weak transcription	NHDF-Ad	bronchial
35	chr11:71937000-71940800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:71937000-71941400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr11:71937000-71949200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr11:71937000-71950200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:71937000-71950600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr11:71937000-71950600	Weak transcription	Psoas Muscle	Psoas
41	chr11:71937200-71938200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr11:71937200-71938200	Genic enhancers	Fetal Muscle Trunk	muscle
43	chr11:71937200-71938200	Genic enhancers	Dnd41	blood
44	chr11:71937200-71938600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:71937200-71938600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:71937200-71938600	Enhancers	Brain Germinal Matrix	brain
47	chr11:71937200-71938800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr11:71937200-71939000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr11:71937200-71939000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr11:71937200-71939200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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