Variant report

Variant	rs6416137
Chromosome Location	chr11:47593945-47593946
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47592895..47594465-chr11:47602509..47604698,2	MCF-7	breast:
2	chr11:47575048..47576708-chr11:47593287..47595867,2	K562	blood:
3	chr11:47592171..47594206-chr11:47641460..47643719,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213619	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10690121	1.00[AMR][1000 genomes]
rs10769279	1.00[AMR][1000 genomes]
rs10769281	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10769283	1.00[AMR][1000 genomes]
rs10769293	1.00[MEX][hapmap]
rs10838735	1.00[ASW][hapmap];0.92[LWK][hapmap];0.97[MKK][hapmap];0.82[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039261	1.00[TSI][hapmap]
rs11039309	1.00[AMR][1000 genomes]
rs11039312	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12286241	1.00[MKK][hapmap];1.00[TSI][hapmap]
rs12289442	1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs2233354	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4256934	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4284367	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4303193	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4331047	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4418760	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4434961	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4486587	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4623856	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4752859	1.00[AMR][1000 genomes]
rs4752863	1.00[MEX][hapmap]
rs6485760	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6485762	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6485764	1.00[AMR][1000 genomes]
rs7103092	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7103351	0.81[AFR][1000 genomes]
rs7105845	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7106293	0.84[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[AMR][1000 genomes]
rs7107473	1.00[AMR][1000 genomes]
rs7109012	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7118271	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7119578	0.83[AFR][1000 genomes]
rs7123107	1.00[EUR][1000 genomes]
rs7129821	1.00[AMR][1000 genomes]
rs7941173	0.87[AFR][1000 genomes]
rs7949024	0.91[AFR][1000 genomes]
rs963331	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv314	chr11:47561564-47606256	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47588000-47594000	Weak transcription	Colonic Mucosa	Colon
2	chr11:47588000-47594200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:47588000-47594200	Weak transcription	Esophagus	oesophagus
4	chr11:47588000-47594400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:47588000-47594600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:47588000-47599800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:47588000-47600000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:47588200-47594200	Weak transcription	Right Ventricle	heart
9	chr11:47588200-47594800	Weak transcription	Small Intestine	intestine
10	chr11:47588400-47594400	Weak transcription	Stomach Mucosa	stomach
11	chr11:47588600-47594600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:47588600-47598600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:47588600-47598800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:47588600-47599000	Strong transcription	Fetal Stomach	stomach
15	chr11:47588600-47599200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:47589200-47594600	Strong transcription	Fetal Muscle Trunk	muscle
17	chr11:47589200-47599000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:47589200-47599000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:47589400-47599400	Strong transcription	Fetal Intestine Small	intestine
20	chr11:47589800-47594200	Strong transcription	Fetal Muscle Leg	muscle
21	chr11:47589800-47595600	Strong transcription	Hela-S3	cervix
22	chr11:47589800-47597200	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:47589800-47597600	Strong transcription	A549	lung
24	chr11:47589800-47598200	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr11:47589800-47598600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:47589800-47599000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:47589800-47599000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:47589800-47599200	Strong transcription	Fetal Thymus	thymus
29	chr11:47590000-47594000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:47590000-47597200	Strong transcription	Dnd41	blood
31	chr11:47590000-47598000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:47590000-47599000	Strong transcription	Duodenum Mucosa	Duodenum
33	chr11:47590000-47599400	Strong transcription	Fetal Intestine Large	intestine
34	chr11:47590200-47599200	Strong transcription	Placenta	Placenta
35	chr11:47590400-47595600	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr11:47590400-47599200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:47590600-47598600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:47590800-47594000	Strong transcription	Fetal Brain Female	brain
39	chr11:47591000-47594000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:47591000-47594000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:47591000-47594000	Strong transcription	Stomach Smooth Muscle	stomach
42	chr11:47591000-47595600	Strong transcription	Primary hematopoietic stem cells	blood
43	chr11:47591000-47596000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr11:47591000-47596800	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:47591000-47597200	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr11:47591000-47597400	Strong transcription	Primary B cells from peripheral blood	blood
47	chr11:47591000-47597600	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr11:47591000-47597600	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr11:47591000-47597800	Strong transcription	HepG2	liver
50	chr11:47591000-47598000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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