Variant report

Variant	rs4756195
Chromosome Location	chr11:35198032-35198033
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	chr11:35197745-35203204	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr11:35197908-35203212	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr11:35197880-35203195	U87	brain:	n/a	n/a
4	POLR2A	chr11:35197784-35203201	U87	brain:	n/a	n/a
5	POLR2A	chr11:35197998-35198791	U87	brain:	n/a	n/a
6	POLR2A	chr11:35198009-35198564	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
CD44	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs353625	0.82[CHD][hapmap]
rs353633	0.90[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs353634	0.90[CHB][hapmap];0.87[CHD][hapmap];0.92[JPT][hapmap];0.89[MEX][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7928464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2758263	chr11:35029933-35226784	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2759818	chr11:35029933-35238578	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv541001	chr11:35053717-35224624	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv2757437	chr11:35067482-35238578	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv2752912	chr11:35074167-35238578	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv508623	chr11:35094933-35203363	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv541002	chr11:35101282-35224624	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv541003	chr11:35122694-35261451	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv541004	chr11:35122694-35297414	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	esv3693078	chr11:35179651-35217745	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4756195	TCP11L1	cis	cerebellum	SCAN

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35187800-35200800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:35189400-35213800	Weak transcription	Right Ventricle	heart
3	chr11:35189400-35218800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:35189600-35198200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:35189600-35204800	Weak transcription	Brain Hippocampus Middle	brain
6	chr11:35190200-35200000	Weak transcription	Brain Anterior Caudate	brain
7	chr11:35190200-35204400	Weak transcription	Brain Substantia Nigra	brain
8	chr11:35190400-35198200	Weak transcription	Left Ventricle	heart
9	chr11:35190600-35200400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:35192200-35202000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr11:35195000-35198200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:35195000-35198200	Weak transcription	Lung	lung
13	chr11:35195000-35199000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:35195000-35201200	Weak transcription	Right Atrium	heart
15	chr11:35195000-35211200	Weak transcription	Gastric	stomach
16	chr11:35195400-35198800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:35195800-35201800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:35195800-35213600	Weak transcription	Liver	Liver
19	chr11:35196000-35198200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr11:35196000-35198200	Weak transcription	Esophagus	oesophagus
21	chr11:35196000-35198200	Weak transcription	Spleen	Spleen
22	chr11:35196000-35199000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:35196000-35199400	Weak transcription	Psoas Muscle	Psoas
24	chr11:35196000-35212200	Weak transcription	Fetal Intestine Small	intestine
25	chr11:35196400-35198200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr11:35196400-35201600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:35196600-35198200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:35196600-35198400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:35196600-35199000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:35196600-35199000	Weak transcription	Fetal Intestine Large	intestine
31	chr11:35196600-35199600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:35196800-35198200	Weak transcription	Aorta	Aorta
33	chr11:35196800-35198200	Weak transcription	Placenta	Placenta
34	chr11:35196800-35198200	Weak transcription	Pancreas	Pancrea
35	chr11:35196800-35198200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:35196800-35198200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:35196800-35198400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:35196800-35198800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr11:35196800-35198800	Genic enhancers	Primary B cells from peripheral blood	blood
40	chr11:35196800-35199400	Weak transcription	Colonic Mucosa	Colon
41	chr11:35196800-35199800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:35196800-35200400	Weak transcription	Small Intestine	intestine
43	chr11:35196800-35200600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr11:35196800-35201400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:35197000-35198200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr11:35197000-35198200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr11:35197000-35198200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr11:35197000-35198200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr11:35197000-35198200	Weak transcription	GM12878-XiMat	blood
50	chr11:35197000-35198200	Strong transcription	HMEC	breast

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