Variant report

Variant	rs73431999
Chromosome Location	chr6:49524230-49524231
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:49431483..49432991-chr6:49522409..49524636,2	MCF-7	breast:
2	chr6:49506422..49508459-chr6:49522309..49524467,2	K562	blood:
3	chr12:102300169..102302246-chr6:49521968..49524948,2	MCF-7	breast:
4	chr6:49512097..49513917-chr6:49520418..49524282,3	K562	blood:
5	chr6:49522660..49524598-chr6:49816309..49818376,2	MCF-7	breast:
6	chr6:49499696..49501316-chr6:49522105..49524371,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136048	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10456625	1.00[EUR][1000 genomes]
rs41273692	1.00[EUR][1000 genomes]
rs41273694	1.00[EUR][1000 genomes]
rs45551532	1.00[EUR][1000 genomes]
rs6458697	1.00[EUR][1000 genomes]
rs6905369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6912159	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6912178	1.00[EUR][1000 genomes]
rs6912690	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6919458	1.00[EUR][1000 genomes]
rs6925445	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6927176	1.00[EUR][1000 genomes]
rs6927459	1.00[EUR][1000 genomes]
rs6939453	1.00[EUR][1000 genomes]
rs6939457	1.00[EUR][1000 genomes]
rs73431965	1.00[EUR][1000 genomes]
rs73433806	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73433809	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73433816	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7742891	1.00[EUR][1000 genomes]
rs7758141	1.00[EUR][1000 genomes]
rs7760893	1.00[EUR][1000 genomes]
rs7761036	1.00[EUR][1000 genomes]
rs7761928	1.00[EUR][1000 genomes]
rs9349495	1.00[EUR][1000 genomes]
rs9473590	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024959	chr6:49290141-49652124	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021136	chr6:49295037-49631278	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv885881	chr6:49439805-49575141	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv933942	chr6:49480550-50004231	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv933833	chr6:49515134-49961765	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49519400-49526600	Enhancers	Hela-S3	cervix
2	chr6:49519400-49533600	Weak transcription	Pancreas	Pancrea
3	chr6:49520600-49529800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:49521200-49525000	Weak transcription	Esophagus	oesophagus
5	chr6:49522000-49524600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:49522800-49534000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:49523000-49524800	Enhancers	HMEC	breast
8	chr6:49523000-49525400	Weak transcription	Stomach Mucosa	stomach
9	chr6:49523400-49524600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:49523600-49524600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
11	chr6:49523600-49524600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
12	chr6:49523600-49524600	Enhancers	NH-A	brain
13	chr6:49523600-49524600	Flanking Active TSS	NHEK	skin
14	chr6:49523600-49530800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:49523800-49524600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:49523800-49524600	Weak transcription	Fetal Intestine Small	intestine
17	chr6:49523800-49524800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:49523800-49524800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:49523800-49524800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:49523800-49524800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:49523800-49524800	Flanking Active TSS	A549	lung
22	chr6:49523800-49525600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr6:49523800-49526200	Enhancers	HepG2	liver
24	chr6:49524000-49524400	Weak transcription	Fetal Intestine Large	intestine
25	chr6:49524000-49524400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr6:49524000-49524600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:49524000-49524600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:49524000-49524600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
29	chr6:49524000-49524600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
30	chr6:49524000-49524600	Enhancers	Primary hematopoietic stem cells	blood
31	chr6:49524000-49524600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr6:49524000-49524600	Enhancers	HSMM	muscle
33	chr6:49524000-49524600	Enhancers	NHDF-Ad	bronchial
34	chr6:49524000-49524800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr6:49524000-49524800	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr6:49524200-49524400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:49524200-49524400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:49524200-49524600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:49524200-49524600	Enhancers	Fetal Lung	lung
40	chr6:49524200-49524600	Flanking Active TSS	K562	blood
41	chr6:49524200-49524800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:49524200-49524800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr6:49524200-49525200	Enhancers	HUVEC	blood vessel

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