Variant report

Variant	rs13193246
Chromosome Location	chr6:131350387-131350388
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:131345332..131348195-chr6:131348850..131352317,3	MCF-7	breast:
2	chr6:131303458..131306255-chr6:131349749..131352593,2	K562	blood:
3	chr6:131322621..131325440-chr6:131350090..131351837,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1043598	0.82[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap]
rs10499174	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs12661081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12664355	0.82[ASW][hapmap];1.00[CEU][hapmap];0.92[JPT][hapmap]
rs12965	0.82[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap]
rs1332491	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1338905	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17059681	1.00[CEU][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap]
rs17059683	0.92[JPT][hapmap]
rs17059698	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs17059702	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs17059896	1.00[CEU][hapmap];0.92[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17059925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17831009	0.92[JPT][hapmap]
rs1976982	0.87[ASN][1000 genomes]
rs2007339	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2151069	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2225557	0.94[ASN][1000 genomes]
rs2275063	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs2275065	0.81[ASN][1000 genomes]
rs3777450	1.00[CEU][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs3777453	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs3777463	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs3822864	1.00[CEU][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs4895902	0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4897480	0.99[ASN][1000 genomes]
rs4897481	0.99[ASN][1000 genomes]
rs4897482	0.99[ASN][1000 genomes]
rs4897490	0.91[ASN][1000 genomes]
rs56027377	0.81[ASN][1000 genomes]
rs6569716	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6569718	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6569720	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6569722	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6569725	0.84[ASN][1000 genomes]
rs6900810	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6942081	0.94[ASN][1000 genomes]
rs73623428	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73774307	0.81[ASN][1000 genomes]
rs73774328	0.91[ASN][1000 genomes]
rs7747881	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs7765007	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7765757	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7769153	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs9321268	0.97[ASN][1000 genomes]
rs9372988	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9689026	0.81[AFR][1000 genomes];0.94[ASN][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	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131337800-131351000	Weak transcription	Stomach Mucosa	stomach
2	chr6:131345600-131350400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:131345600-131350600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:131345600-131350800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:131345600-131351000	Weak transcription	Right Ventricle	heart
6	chr6:131345800-131350600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:131345800-131350600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr6:131345800-131350600	Weak transcription	NHEK	skin
9	chr6:131345800-131350800	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:131345800-131351000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:131345800-131351000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:131345800-131351200	Weak transcription	Right Atrium	heart
13	chr6:131345800-131352000	Weak transcription	Lung	lung
14	chr6:131345800-131353200	Weak transcription	Ovary	ovary
15	chr6:131345800-131353800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:131345800-131357600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:131346000-131350400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:131346000-131351200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:131346000-131351200	Weak transcription	Colon Smooth Muscle	Colon
20	chr6:131346000-131375000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:131346200-131351200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:131347000-131350800	Weak transcription	NHLF	lung
23	chr6:131347600-131350600	Weak transcription	Osteobl	bone
24	chr6:131347600-131351200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:131347800-131350800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr6:131347800-131350800	Weak transcription	Fetal Kidney	kidney
27	chr6:131348000-131350800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr6:131348000-131350800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:131348000-131351000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr6:131348000-131351000	Weak transcription	Small Intestine	intestine
31	chr6:131348000-131351200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:131348000-131351200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:131348600-131351600	Enhancers	Adipose Nuclei	Adipose
34	chr6:131348800-131351000	Weak transcription	Psoas Muscle	Psoas
35	chr6:131348800-131351200	Weak transcription	Left Ventricle	heart
36	chr6:131348800-131351400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:131349000-131358800	Weak transcription	Pancreas	Pancrea
38	chr6:131349200-131350800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr6:131349400-131351400	Enhancers	Brain Angular Gyrus	brain
40	chr6:131349600-131351400	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr6:131350000-131350800	Enhancers	GM12878-XiMat	blood
42	chr6:131350000-131351200	Enhancers	NHDF-Ad	bronchial
43	chr6:131350000-131351400	Enhancers	Rectal Smooth Muscle	rectum
44	chr6:131350000-131351600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:131350000-131351600	Enhancers	Fetal Heart	heart
46	chr6:131350000-131351600	Enhancers	HSMMtube	muscle
47	chr6:131350000-131351800	Enhancers	A549	lung
48	chr6:131350000-131351800	Enhancers	HepG2	liver
49	chr6:131350000-131353200	Enhancers	Brain Anterior Caudate	brain
50	chr6:131350200-131350400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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