Variant report

Variant	rs6492283
Chromosome Location	chr13:111191856-111191857
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	chr13:111189757..111192699-chr13:111197488..111200352,2	MCF-7	breast:
2	chr13:111190119..111192322-chr13:111194362..111196366,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1106649	1.00[YRI][hapmap]
rs1318377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1886871	0.88[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs1969890	0.95[ASN][1000 genomes]
rs2182272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs331595	0.88[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs331598	0.91[ASN][1000 genomes]
rs331599	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs331601	0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs413695	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs422183	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4771690	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6492284	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs912941	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs912942	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs912943	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs912945	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs927793	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs942921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9555717	0.97[ASN][1000 genomes]
rs9634594	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv832720	chr13:111100235-111295993	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1046291	chr13:111125747-111257861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS 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	16 gene(s)	inside rSNPs	diseases
4	nsv1045143	chr13:111126822-111242791	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1044234	chr13:111143053-111370580	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
6	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
7	nsv901010	chr13:111165390-111286592	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh 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	nsv1053922	chr13:111167764-111330876	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1043849	chr13:111167764-111340418	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv541924	chr13:111167764-111340418	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv1036160	chr13:111167764-111347308	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv541925	chr13:111167764-111347308	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
13	nsv901011	chr13:111168951-111280002	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111160800-111209600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr13:111182000-111192200	Weak transcription	Fetal Heart	heart
3	chr13:111182200-111193400	Weak transcription	Aorta	Aorta
4	chr13:111182400-111193800	Weak transcription	HepG2	liver
5	chr13:111182400-111203600	Weak transcription	Brain Substantia Nigra	brain
6	chr13:111184000-111193200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:111184000-111199600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr13:111184000-111211800	Weak transcription	HMEC	breast
9	chr13:111184200-111193200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr13:111184200-111196400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr13:111184200-111197000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr13:111184600-111209800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:111185800-111193600	Weak transcription	Colon Smooth Muscle	Colon
14	chr13:111186400-111193200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:111186600-111192400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr13:111186800-111192200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr13:111188200-111192600	Enhancers	GM12878-XiMat	blood
18	chr13:111188200-111193200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:111188200-111194000	Weak transcription	Brain Hippocampus Middle	brain
20	chr13:111188400-111196400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr13:111188400-111203600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr13:111188600-111193200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr13:111188800-111193200	Weak transcription	Right Atrium	heart
24	chr13:111188800-111193400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr13:111189000-111193200	Weak transcription	Fetal Stomach	stomach
26	chr13:111189000-111193200	Weak transcription	Right Ventricle	heart
27	chr13:111189000-111193800	Weak transcription	Fetal Intestine Large	intestine
28	chr13:111189000-111198600	Weak transcription	NHLF	lung
29	chr13:111189000-111198800	Weak transcription	Small Intestine	intestine
30	chr13:111189000-111201600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr13:111190000-111193800	Weak transcription	K562	blood
32	chr13:111190200-111193200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr13:111190400-111193200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr13:111190400-111193200	Weak transcription	Fetal Intestine Small	intestine
35	chr13:111190400-111199400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr13:111191200-111193200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr13:111191200-111193200	Weak transcription	Liver	Liver
38	chr13:111191200-111193200	Weak transcription	Gastric	stomach
39	chr13:111191200-111193200	Weak transcription	Left Ventricle	heart
40	chr13:111191200-111193400	Weak transcription	Spleen	Spleen
41	chr13:111191200-111213000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr13:111191400-111192400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr13:111191400-111192400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr13:111191400-111193200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr13:111191400-111193200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr13:111191400-111193200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr13:111191400-111193200	Weak transcription	Placenta	Placenta
48	chr13:111191400-111193200	Weak transcription	Ovary	ovary
49	chr13:111191400-111193200	Weak transcription	Pancreas	Pancrea
50	chr13:111191400-111193400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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