Variant report

Variant	rs6492247
Chromosome Location	chr13:110884920-110884921
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	chr13:110876873..110878993-chr13:110883696..110885536,2	K562	blood:
2	chr13:110884811..110886998-chr13:110899690..110902649,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16975708	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17517598	1.00[ASN][1000 genomes]
rs1874137	1.00[ASN][1000 genomes]
rs1874138	1.00[ASN][1000 genomes]
rs561168	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs56294756	1.00[ASN][1000 genomes]
rs61428489	1.00[ASN][1000 genomes]
rs61963044	1.00[ASN][1000 genomes]
rs61963281	0.82[EUR][1000 genomes]
rs61963290	0.85[EUR][1000 genomes]
rs7318128	1.00[CHD][hapmap]
rs73613433	1.00[ASN][1000 genomes]
rs7999790	1.00[CHD][hapmap]
rs913745	0.83[YRI][hapmap];0.86[AFR][1000 genomes]
rs923945	0.82[YRI][hapmap];0.86[AFR][1000 genomes]
rs923946	1.00[CHD][hapmap];0.88[LWK][hapmap];0.96[MKK][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052147	chr13:110765635-110917782	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110866400-110885000	Weak transcription	Fetal Intestine Large	intestine
2	chr13:110869000-110898800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr13:110878800-110885000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr13:110879000-110885000	Weak transcription	Osteobl	bone
5	chr13:110879000-110888400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:110879000-110889200	Weak transcription	Fetal Intestine Small	intestine
7	chr13:110879600-110890000	Weak transcription	Fetal Kidney	kidney
8	chr13:110880800-110885400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr13:110881400-110894800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr13:110881400-110899800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr13:110881600-110900600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr13:110882200-110885000	Weak transcription	HSMMtube	muscle
13	chr13:110882400-110885000	Weak transcription	HSMM	muscle
14	chr13:110882400-110900400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr13:110882600-110885000	Weak transcription	Ovary	ovary
16	chr13:110882600-110886800	Enhancers	Colon Smooth Muscle	Colon
17	chr13:110882600-110898800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr13:110882600-110899600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr13:110882600-110913600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr13:110882800-110900600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr13:110883000-110885200	Weak transcription	Lung	lung
22	chr13:110883200-110885400	Genic enhancers	NH-A	brain
23	chr13:110883200-110895000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr13:110883400-110885000	Enhancers	Right Atrium	heart
25	chr13:110883400-110885000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
26	chr13:110883600-110885000	Enhancers	Adipose Nuclei	Adipose
27	chr13:110883600-110886200	Weak transcription	Spleen	Spleen
28	chr13:110883800-110885000	Enhancers	HUVEC	blood vessel
29	chr13:110884000-110885000	Enhancers	Fetal Muscle Leg	muscle
30	chr13:110884000-110885200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr13:110884000-110885400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr13:110884000-110886000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr13:110884000-110886200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr13:110884200-110885000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr13:110884200-110885000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr13:110884200-110885200	Weak transcription	Esophagus	oesophagus
37	chr13:110884200-110885200	Weak transcription	Right Ventricle	heart
38	chr13:110884200-110886600	Enhancers	Fetal Stomach	stomach
39	chr13:110884200-110886800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr13:110884200-110902200	Weak transcription	HMEC	breast
41	chr13:110884400-110885000	Enhancers	Stomach Smooth Muscle	stomach
42	chr13:110884400-110885000	Enhancers	NHLF	lung
43	chr13:110884400-110885200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr13:110884400-110885200	Enhancers	Fetal Lung	lung
45	chr13:110884400-110886400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr13:110884400-110886600	Enhancers	Fetal Heart	heart
47	chr13:110884400-110888800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr13:110884400-110890200	Weak transcription	Pancreas	Pancrea
49	chr13:110884600-110885000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr13:110884600-110885200	Enhancers	Duodenum Smooth Muscle	Duodenum

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