Variant report

Variant	rs17190886
Chromosome Location	chr11:3808367-3808368
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:3805522..3809084-chr11:3816316..3820191,6	K562	blood:
2	chr11:3800022..3802769-chr11:3806589..3809326,2	MCF-7	breast:
3	chr11:3805860..3809513-chr11:3815479..3820191,6	K562	blood:
4	chr11:3806705..3808859-chr11:3857209..3860146,2	K562	blood:
5	chr11:3805418..3808552-chr11:3809921..3811624,3	K562	blood:
6	chr11:3807957..3810519-chr11:3817559..3819910,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110713	Chromatin interaction
ENSG00000177105	Chromatin interaction
ENSG00000238304	Chromatin interaction
ENSG00000148985	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11029772	0.82[EUR][1000 genomes]
rs11605255	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11607564	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs276894	0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs276896	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs276898	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs276902	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2957867	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2957869	0.87[ASN][1000 genomes]
rs2957871	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56163942	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs581757	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs596269	0.81[ASN][1000 genomes]
rs619479	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs636642	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66480520	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73430457	0.94[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]

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	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1803195	chr11:3806490-3924156	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 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	chr11:3739400-3817600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:3780600-3817000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:3786800-3816000	Weak transcription	Stomach Mucosa	stomach
4	chr11:3791200-3813200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:3793800-3816800	Weak transcription	Fetal Heart	heart
6	chr11:3793800-3817000	Weak transcription	Fetal Brain Male	brain
7	chr11:3800000-3808400	Weak transcription	Psoas Muscle	Psoas
8	chr11:3800400-3808400	Weak transcription	Pancreas	Pancrea
9	chr11:3800400-3812800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:3800400-3813200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:3800400-3813400	Weak transcription	Fetal Kidney	kidney
12	chr11:3800400-3816400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:3800400-3816400	Weak transcription	Small Intestine	intestine
14	chr11:3800400-3817000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:3800400-3817600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:3800600-3813400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:3800600-3816400	Weak transcription	Colonic Mucosa	Colon
18	chr11:3800600-3817000	Weak transcription	HSMMtube	muscle
19	chr11:3800600-3817200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr11:3800800-3808400	Weak transcription	Right Ventricle	heart
21	chr11:3801400-3812800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:3801600-3813800	Weak transcription	Fetal Brain Female	brain
23	chr11:3801800-3810400	Enhancers	Primary hematopoietic stem cells	blood
24	chr11:3802200-3813200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr11:3802400-3808400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:3802400-3808400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr11:3802400-3808400	Weak transcription	Placenta	Placenta
28	chr11:3802400-3808400	Weak transcription	Fetal Stomach	stomach
29	chr11:3802400-3808400	Weak transcription	Lung	lung
30	chr11:3802400-3811200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr11:3802400-3811200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr11:3802400-3811400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:3802400-3814200	Weak transcription	Aorta	Aorta
34	chr11:3802400-3814200	Weak transcription	Brain Germinal Matrix	brain
35	chr11:3802600-3813200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:3802800-3808600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr11:3802800-3813200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr11:3803000-3811200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:3803000-3811200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:3803400-3808400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:3803600-3811400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:3803600-3813400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:3804000-3813800	Weak transcription	HMEC	breast
44	chr11:3804400-3813600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:3804600-3808400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:3804600-3813200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:3804600-3813800	Weak transcription	Esophagus	oesophagus
48	chr11:3804600-3816000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:3804800-3809000	Weak transcription	HepG2	liver
50	chr11:3804800-3809400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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