Variant report

Variant	rs13193708
Chromosome Location	chr6:131346704-131346705
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131341511..131345249-chr6:131345439..131348645,4	K562	blood:
2	chr6:131345332..131348195-chr6:131348850..131352317,3	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10456991	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs10457565	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs10457566	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12193575	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12193685	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs12198862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12202022	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12202345	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs12204522	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12207007	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210131	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210483	1.00[ASN][1000 genomes]
rs12211363	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12212907	1.00[ASN][1000 genomes]
rs12213224	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12214117	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs13191751	1.00[ASN][1000 genomes]
rs13194156	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13199082	1.00[CEU][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13205393	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs13214846	1.00[ASN][1000 genomes]
rs13218427	1.00[ASN][1000 genomes]
rs13219477	1.00[ASN][1000 genomes]
rs34206551	1.00[ASN][1000 genomes]
rs34948572	1.00[ASN][1000 genomes]
rs35061946	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35089988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35111535	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35291891	0.83[EUR][1000 genomes]
rs35916985	1.00[ASN][1000 genomes]
rs6935560	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs71572945	1.00[ASN][1000 genomes]
rs71572950	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760822	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs7767569	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs9885632	1.00[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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131329800-131347400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:131337400-131347200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:131337800-131351000	Weak transcription	Stomach Mucosa	stomach
4	chr6:131339400-131349400	Weak transcription	Brain Angular Gyrus	brain
5	chr6:131344400-131347600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:131345000-131347000	Enhancers	NHLF	lung
7	chr6:131345000-131348000	Enhancers	Brain Anterior Caudate	brain
8	chr6:131345000-131348800	Enhancers	Brain Hippocampus Middle	brain
9	chr6:131345200-131348000	Enhancers	Brain Substantia Nigra	brain
10	chr6:131345400-131347000	Enhancers	Hela-S3	cervix
11	chr6:131345600-131346800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:131345600-131347200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:131345600-131347600	Enhancers	NHDF-Ad	bronchial
14	chr6:131345600-131350400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:131345600-131350600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:131345600-131350800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:131345600-131351000	Weak transcription	Right Ventricle	heart
18	chr6:131345800-131346800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr6:131345800-131346800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr6:131345800-131347400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr6:131345800-131347400	Weak transcription	Small Intestine	intestine
22	chr6:131345800-131348600	Weak transcription	Left Ventricle	heart
23	chr6:131345800-131348800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:131345800-131349000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr6:131345800-131350000	Weak transcription	HSMMtube	muscle
26	chr6:131345800-131350200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:131345800-131350200	Weak transcription	HSMM	muscle
28	chr6:131345800-131350600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr6:131345800-131350600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr6:131345800-131350600	Weak transcription	NHEK	skin
31	chr6:131345800-131350800	Weak transcription	Fetal Muscle Leg	muscle
32	chr6:131345800-131351000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:131345800-131351000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:131345800-131351200	Weak transcription	Right Atrium	heart
35	chr6:131345800-131352000	Weak transcription	Lung	lung
36	chr6:131345800-131353200	Weak transcription	Ovary	ovary
37	chr6:131345800-131353800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:131345800-131357600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:131346000-131347200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:131346000-131350000	Weak transcription	A549	lung
41	chr6:131346000-131350000	Weak transcription	HepG2	liver
42	chr6:131346000-131350200	Weak transcription	NH-A	brain
43	chr6:131346000-131350400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:131346000-131351200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:131346000-131351200	Weak transcription	Colon Smooth Muscle	Colon
46	chr6:131346000-131375000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:131346200-131349600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr6:131346200-131350000	Weak transcription	GM12878-XiMat	blood
49	chr6:131346200-131351200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:131346400-131347600	Enhancers	Osteobl	bone

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