Variant report

Variant	rs314751
Chromosome Location	chr11:68179560-68179561
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:68179255..68181332-chr11:68230126..68231810,2	MCF-7	breast:
2	chr11:68162958..68165501-chr11:68179267..68181226,2	MCF-7	breast:
3	chr11:68177783..68180880-chr11:68182528..68185254,6	K562	blood:
4	chr11:68080308..68083110-chr11:68179226..68181046,2	MCF-7	breast:
5	chr11:68179321..68181405-chr11:68212679..68214653,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162337	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs23691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314750	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3853616	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs471966	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs497261	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs525592	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs554734	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs556442	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs599083	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs599301	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs603129	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs607887	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs608343	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs630225	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs638076	0.88[EUR][1000 genomes]
rs653056	0.87[EUR][1000 genomes]
rs683978	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs689075	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7950129	0.88[EUR][1000 genomes]
rs901823	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	esv3347272	chr11:67969427-68218997	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv897857	chr11:68056770-68231240	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription 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	22 gene(s)	inside rSNPs	diseases
4	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv897859	chr11:68102000-68231240	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1047532	chr11:68103330-68239242	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv541082	chr11:68103330-68239242	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1039671	chr11:68120571-68206630	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv897861	chr11:68129606-68196830	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv897862	chr11:68129606-68236389	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv469965	chr11:68140781-68217420	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv555285	chr11:68144283-68231240	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv468618	chr11:68171013-68231240	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68147400-68181600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:68148600-68196800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:68149600-68180400	Weak transcription	NHLF	lung
4	chr11:68157200-68196600	Weak transcription	NH-A	brain
5	chr11:68157600-68180400	Weak transcription	Osteobl	bone
6	chr11:68167200-68179600	Weak transcription	K562	blood
7	chr11:68167800-68181000	Weak transcription	Small Intestine	intestine
8	chr11:68167800-68196600	Weak transcription	Fetal Brain Male	brain
9	chr11:68168400-68185000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:68168400-68189000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:68168600-68181400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:68168600-68188800	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:68168600-68188800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:68168600-68193600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:68168600-68195600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:68169000-68193600	Strong transcription	Fetal Intestine Small	intestine
17	chr11:68169200-68180200	Strong transcription	Fetal Stomach	stomach
18	chr11:68169200-68180800	Strong transcription	Adipose Nuclei	Adipose
19	chr11:68169400-68181400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:68169400-68181600	Strong transcription	Thymus	Thymus
21	chr11:68169400-68196600	Weak transcription	Right Atrium	heart
22	chr11:68169600-68188200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:68169600-68196800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:68171800-68179600	Weak transcription	Fetal Kidney	kidney
25	chr11:68172200-68180200	Weak transcription	NHDF-Ad	bronchial
26	chr11:68173000-68184600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:68173000-68188400	Strong transcription	Dnd41	blood
28	chr11:68173400-68184200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:68173400-68187400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:68173600-68180200	Weak transcription	Fetal Heart	heart
31	chr11:68173800-68189000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:68174000-68180200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr11:68174000-68181400	Strong transcription	Fetal Thymus	thymus
34	chr11:68174400-68180200	Strong transcription	Stomach Smooth Muscle	stomach
35	chr11:68174400-68192800	Strong transcription	Fetal Intestine Large	intestine
36	chr11:68174400-68195800	Weak transcription	Primary B cells from cord blood	blood
37	chr11:68174600-68180400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr11:68174600-68196800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:68175200-68180400	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr11:68175400-68184800	Strong transcription	Fetal Lung	lung
41	chr11:68175600-68180600	Strong transcription	Ovary	ovary
42	chr11:68175600-68196000	Strong transcription	Brain Germinal Matrix	brain
43	chr11:68176000-68184800	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:68176000-68210400	Strong transcription	HepG2	liver
45	chr11:68176200-68182800	Genic enhancers	Fetal Muscle Trunk	muscle
46	chr11:68176200-68186400	Strong transcription	Pancreas	Pancrea
47	chr11:68176800-68180400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr11:68177000-68180200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:68177000-68182400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:68177000-68182800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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