Variant report

Variant	rs11024614
Chromosome Location	chr11:18326758-18326759
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18319468..18322359-chr11:18325537..18328160,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10766469	0.80[EUR][1000 genomes]
rs10766471	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10832918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10832919	0.81[EUR][1000 genomes]
rs10832920	0.92[CEU][hapmap]
rs11024605	0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs11024607	0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs11024608	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11024609	0.82[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs11024610	0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs11024611	0.80[ASN][1000 genomes]
rs11024612	0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs11024613	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs11024615	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs11024621	0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs11024622	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12224608	0.83[JPT][hapmap]
rs12294486	0.80[EUR][1000 genomes]
rs1869786	0.80[ASN][1000 genomes]
rs1869787	0.80[ASN][1000 genomes]
rs2037867	0.90[CEU][hapmap]
rs2305564	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs2305565	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2403254	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs3781944	0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs3802967	0.91[CEU][hapmap]
rs4150581	0.87[CEU][hapmap]
rs4150606	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4150628	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4150644	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4366463	0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs4586132	0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs4596	0.92[CEU][hapmap]
rs4756938	0.80[ASN][1000 genomes]
rs4757638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757639	0.80[ASN][1000 genomes]
rs60677587	0.80[ASN][1000 genomes]
rs7113249	0.85[JPT][hapmap]
rs7122032	0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs7128017	0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs7128146	0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs73430865	0.80[ASN][1000 genomes]
rs73430866	0.80[ASN][1000 genomes]
rs73430881	0.80[ASN][1000 genomes]
rs73430888	0.80[ASN][1000 genomes]
rs73430894	0.80[ASN][1000 genomes]
rs73432712	0.80[ASN][1000 genomes]
rs7478729	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][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	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv428569	chr11:18194030-18350869	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv933836	chr11:18300254-18440933	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11024614	GTF2H1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18287600-18334000	Weak transcription	Right Atrium	heart
2	chr11:18297400-18328400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:18298200-18333800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:18298800-18327600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:18298800-18331600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:18299200-18332400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:18299600-18334200	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:18300000-18328600	Weak transcription	Stomach Mucosa	stomach
9	chr11:18300000-18334400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:18300200-18333600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:18300200-18334000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:18300200-18334800	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:18300200-18336000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:18300600-18331600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:18300600-18332600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:18300600-18333200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:18300600-18334000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:18300800-18328400	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr11:18300800-18330200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:18300800-18333000	Strong transcription	Dnd41	blood
21	chr11:18301000-18328000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:18301000-18334400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:18302200-18333000	Strong transcription	Adipose Nuclei	Adipose
24	chr11:18303000-18327000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:18303000-18334800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:18303200-18334800	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:18303400-18335000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr11:18304400-18332000	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr11:18304600-18332000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr11:18305000-18331600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr11:18305200-18332000	Strong transcription	Primary B cells from cord blood	blood
32	chr11:18305600-18335000	Strong transcription	Primary T cells from cord blood	blood
33	chr11:18307400-18332400	Strong transcription	Duodenum Mucosa	Duodenum
34	chr11:18308000-18333000	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr11:18309000-18331600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr11:18310800-18334000	Weak transcription	Esophagus	oesophagus
37	chr11:18311800-18343000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:18312800-18334400	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:18313000-18333000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:18314800-18330000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:18315200-18332000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr11:18315600-18327200	Strong transcription	Hela-S3	cervix
43	chr11:18316200-18333800	Weak transcription	Fetal Heart	heart
44	chr11:18316800-18332200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr11:18317000-18330000	Weak transcription	Fetal Brain Male	brain
46	chr11:18317200-18330600	Weak transcription	Lung	lung
47	chr11:18317200-18342200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr11:18318200-18329600	Weak transcription	Colonic Mucosa	Colon
49	chr11:18318800-18329800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr11:18319000-18327400	Weak transcription	Right Ventricle	heart

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