Variant report

Variant	rs73430300
Chromosome Location	chr6:53740602-53740603
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs56044016	0.82[AFR][1000 genomes]
rs56093057	1.00[AFR][1000 genomes]
rs60637604	0.92[AFR][1000 genomes]
rs6933638	0.92[AFR][1000 genomes]
rs73430206	0.92[AFR][1000 genomes]
rs73430273	1.00[AFR][1000 genomes]
rs73430278	1.00[AFR][1000 genomes]
rs73430284	1.00[AFR][1000 genomes]
rs73430290	1.00[AFR][1000 genomes]
rs73430291	0.92[AFR][1000 genomes]
rs73430293	1.00[AFR][1000 genomes]
rs73430295	0.96[AFR][1000 genomes]
rs73430297	0.96[AFR][1000 genomes]
rs73741372	1.00[AFR][1000 genomes]
rs7770003	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv830664	chr6:53698021-53825270	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53695000-53743200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:53709800-53762200	Weak transcription	Primary B cells from cord blood	blood
3	chr6:53719800-53747800	Weak transcription	Primary T cells from cord blood	blood
4	chr6:53720600-53741400	Weak transcription	Dnd41	blood
5	chr6:53722000-53748200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:53727600-53751800	Weak transcription	Thymus	Thymus
7	chr6:53729400-53748000	Weak transcription	HepG2	liver
8	chr6:53730200-53748200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:53730200-53758800	Weak transcription	Brain Anterior Caudate	brain
10	chr6:53730400-53743800	Weak transcription	Fetal Heart	heart
11	chr6:53732000-53747800	Weak transcription	HSMMtube	muscle
12	chr6:53732000-53760400	Weak transcription	Aorta	Aorta
13	chr6:53734600-53741400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:53735000-53751800	Weak transcription	Gastric	stomach
15	chr6:53735400-53755600	Weak transcription	HUVEC	blood vessel
16	chr6:53736200-53751400	Weak transcription	Brain Substantia Nigra	brain
17	chr6:53737800-53744800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr6:53737800-53768400	Weak transcription	Esophagus	oesophagus
19	chr6:53738400-53741400	Weak transcription	Fetal Intestine Small	intestine
20	chr6:53738400-53747800	Weak transcription	Fetal Thymus	thymus
21	chr6:53738600-53741800	Weak transcription	Fetal Intestine Large	intestine
22	chr6:53738800-53742000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:53739000-53741400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:53739000-53741600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:53739000-53753600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:53739000-53753600	Weak transcription	NHEK	skin
27	chr6:53739000-53767800	Weak transcription	Ovary	ovary
28	chr6:53739000-53771800	Weak transcription	Pancreas	Pancrea
29	chr6:53740000-53750600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr6:53740000-53752400	Weak transcription	Brain Hippocampus Middle	brain
31	chr6:53740000-53755200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:53740200-53747800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:53740400-53754000	Weak transcription	HSMM	muscle
34	chr6:53740400-53761000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:53740600-53742200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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