Variant report

Variant	rs4357137
Chromosome Location	chr6:53667076-53667077
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	chr6:53658074..53661500-chr6:53665501..53670163,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228614	Chromatin interaction
ENSG00000137269	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10498795	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1543356	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs16884427	0.81[AMR][1000 genomes]
rs17748452	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2223617	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs2820217	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2820218	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4077760	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[ASN][1000 genomes]
rs4276504	1.00[CHB][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4380749	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4397225	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4476827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4580851	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6905927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6908101	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6919924	1.00[ASN][1000 genomes]
rs6925165	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs761135	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs7752696	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9474672	1.00[CEU][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1021506	chr6:53600338-53770482	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv3474747	chr6:53648744-53677210	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3474748	chr6:53648758-53677207	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53661400-53667200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:53661400-53668000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:53661400-53668000	Weak transcription	Ovary	ovary
4	chr6:53661400-53669800	Weak transcription	Gastric	stomach
5	chr6:53661400-53670400	Weak transcription	Primary T cells from cord blood	blood
6	chr6:53661400-53675600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:53661400-53688200	Weak transcription	Right Ventricle	heart
8	chr6:53662000-53670200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:53662200-53667200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:53662400-53667400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr6:53662400-53668000	Weak transcription	NH-A	brain
12	chr6:53662600-53668000	Weak transcription	Pancreas	Pancrea
13	chr6:53662600-53669600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:53662600-53670000	Weak transcription	Esophagus	oesophagus
15	chr6:53662600-53670400	Weak transcription	Thymus	Thymus
16	chr6:53662600-53677600	Weak transcription	Small Intestine	intestine
17	chr6:53662800-53667800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr6:53662800-53668000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr6:53662800-53668000	Weak transcription	NHEK	skin
20	chr6:53662800-53669800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:53662800-53669800	Weak transcription	HMEC	breast
22	chr6:53662800-53670200	Weak transcription	Fetal Intestine Large	intestine
23	chr6:53662800-53670200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr6:53662800-53675400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr6:53663000-53669800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:53663200-53670600	Weak transcription	Fetal Intestine Small	intestine
27	chr6:53664000-53668000	Weak transcription	HUVEC	blood vessel
28	chr6:53664000-53669000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:53664800-53667200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:53664800-53668400	Weak transcription	HepG2	liver
31	chr6:53664800-53669800	Weak transcription	Fetal Thymus	thymus
32	chr6:53664800-53673400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr6:53665000-53667800	Weak transcription	Brain Substantia Nigra	brain
34	chr6:53665000-53669800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr6:53665000-53674800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr6:53665000-53675600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr6:53665800-53667600	Enhancers	Brain Hippocampus Middle	brain
38	chr6:53665800-53667800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:53665800-53668800	Enhancers	Dnd41	blood
40	chr6:53666000-53670000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:53666200-53668200	Weak transcription	Brain Anterior Caudate	brain
42	chr6:53666200-53669800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr6:53666800-53667200	Weak transcription	Aorta	Aorta
44	chr6:53666800-53667800	Enhancers	Colon Smooth Muscle	Colon
45	chr6:53666800-53669000	Enhancers	NHLF	lung
46	chr6:53667000-53667400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr6:53667000-53667800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr6:53667000-53669800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:53667000-53670000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr6:53667000-53670200	Weak transcription	H9 Cell Line	embryonic stem cell

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