Variant report

Variant	rs833060
Chromosome Location	chr6:43735149-43735150
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr6:43734063-43735448	HepG2	liver:	n/a	n/a
2	EP300	chr6:43734524-43735358	HepG2	liver:	n/a	chr6:43734834-43734843
3	RXRA	chr6:43734676-43735262	HepG2	liver:	n/a	chr6:43735074-43735088

No.	Distal block	Cell Line	Cell type
1	chr6:43735113..43737668-chr6:44032458..44034599,2	K562	blood:
2	chr6:43734520..43737591-chr6:44223261..44225123,3	K562	blood:
3	chr6:43691243..43691890-chr6:43734525..43735179,2	K562	blood:
4	chr6:43730164..43744120-chr6:44034600..44052665,50	K562	blood:
5	chr6:43700705..43714068-chr6:43733889..43742277,18	K562	blood:
6	chr6:43692844..43694589-chr6:43732603..43735639,3	MCF-7	breast:

Variant related genes	Relation type
VEGFA	TF binding region
ENSG00000231881	Chromatin interaction
ENSG00000237686	Chromatin interaction
ENSG00000236961	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2010963	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3024997	0.83[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs3024998	0.82[ASN][1000 genomes]
rs3025000	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs699946	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[ASN][1000 genomes]
rs735286	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs833068	0.83[CEU][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs833069	0.83[CEU][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs865577	0.80[AMR][1000 genomes];0.84[ASN][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	nsv869383	chr6:43505094-43752189	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
3	nsv1018626	chr6:43694649-43803732	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv885848	chr6:43732669-43753051	Genic enhancers Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv3331607	chr6:43734924-43742622	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:43709000-43737000	Weak transcription	Right Atrium	heart
2	chr6:43722000-43737400	Weak transcription	Fetal Kidney	kidney
3	chr6:43727600-43737200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:43729200-43737200	Weak transcription	Spleen	Spleen
5	chr6:43729800-43737400	Enhancers	Fetal Intestine Small	intestine
6	chr6:43730000-43737400	Enhancers	Fetal Intestine Large	intestine
7	chr6:43731400-43737400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:43731400-43737400	Enhancers	Stomach Mucosa	stomach
9	chr6:43731600-43735400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:43731800-43735800	Weak transcription	Ovary	ovary
11	chr6:43732000-43735800	Weak transcription	Osteobl	bone
12	chr6:43732000-43737400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr6:43732600-43735200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:43732600-43735400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:43732600-43736600	Weak transcription	K562	blood
16	chr6:43733000-43737200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr6:43733400-43735800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:43733400-43737400	Enhancers	Duodenum Mucosa	Duodenum
19	chr6:43733400-43737400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr6:43733600-43735400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:43733800-43735200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
22	chr6:43733800-43736000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:43733800-43736400	Enhancers	Pancreas	Pancrea
24	chr6:43733800-43737000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr6:43733800-43737200	Enhancers	Liver	Liver
26	chr6:43734000-43735400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:43734000-43735600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr6:43734000-43737400	Enhancers	Colonic Mucosa	Colon
29	chr6:43734200-43735200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:43734200-43735400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr6:43734200-43735600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:43734200-43736200	Weak transcription	Small Intestine	intestine
33	chr6:43734200-43736800	Weak transcription	Hela-S3	cervix
34	chr6:43734200-43737400	Enhancers	Fetal Lung	lung
35	chr6:43734400-43735600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr6:43734600-43735200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr6:43734600-43735600	Weak transcription	Fetal Stomach	stomach
38	chr6:43734600-43737200	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr6:43734800-43735400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr6:43734800-43735600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr6:43734800-43735600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr6:43734800-43735600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr6:43734800-43737000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr6:43734800-43737200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr6:43735000-43735200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:43735000-43735800	Flanking Bivalent TSS/Enh	HepG2	liver
47	chr6:43735000-43736200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr6:43735000-43737000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr6:43735000-43737400	Enhancers	Gastric	stomach

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