Variant report

Variant	rs735286
Chromosome Location	chr6:43744621-43744622
allele	A/G
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	POLR2A	chr6:43743876-43745177	PBDE	blood:	n/a	n/a
2	POLR2A	chr6:43737070-43746379	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr6:43737291-43756474	K562	blood:	n/a	n/a
4	POLR2A	chr6:43736571-43752619	HepG2	liver:	n/a	n/a
5	POLR2A	chr6:43743943-43745432	GM12878	blood:	n/a	n/a
6	HEY1	chr6:43736480-43752618	HepG2	liver:	n/a	chr6:43737671-43737686 chr6:43739793-43739808
7	POLR2A	chr6:43742764-43748019	K562	blood:	n/a	n/a
8	POLR2A	chr6:43744598-43745102	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr6:43744615-43756551	K562	blood:	n/a	n/a
10	POLR2A	chr6:43738927-43752629	HepG2	liver:	n/a	n/a
11	POLR2A	chr6:43736601-43746456	IMR90	lung:	n/a	n/a
12	POLR2A	chr6:43736458-43765400	U87	brain:	n/a	n/a
13	POLR2A	chr6:43736482-43752553	HepG2	liver:	n/a	n/a
14	POLR2A	chr6:43737208-43745329	HCT-116	colon:	n/a	n/a
15	POLR2A	chr6:43736371-43765427	U87	brain:	n/a	n/a
16	POLR2A	chr6:43744598-43745301	HepG2	liver:	n/a	n/a
17	POLR2A	chr6:43744602-43752599	K562	blood:	n/a	n/a
18	MAZ	chr6:43735419-43745130	IMR90	lung:	n/a	chr6:43739126-43739135 chr6:43736845-43736855 chr6:43739801-43739811 chr6:43739253-43739262 chr6:43739604-43739614 chr6:43739715-43739724 chr6:43737895-43737904 chr6:43739142-43739151
19	POLR2A	chr6:43736623-43760187	U87	brain:	n/a	n/a
20	GATA1	chr6:43743988-43744694	PBDE	blood:	n/a	n/a
21	CHD1	chr6:43736165-43753887	IMR90	lung:	n/a	chr6:43739796-43739806 chr6:43739318-43739328

No.	Distal block	Cell Line	Cell type
1	chr6:43742782..43745224-chr6:44046035..44049278,3	MCF-7	breast:
2	chr6:43742777..43745112-chr6:43953190..43954729,2	K562	blood:
3	chr6:43591688..43594576-chr6:43742532..43744832,2	K562	blood:
4	chr6:43736441..43745894-chr6:44037513..44049664,39	K562	blood:
5	chr6:43594866..43599640-chr6:43736940..43745540,22	K562	blood:
6	chr6:43743337..43745045-chr6:44056007..44058591,2	K562	blood:
7	chr6:43690346..43692325-chr6:43742986..43744888,2	K562	blood:
8	chr6:43653530..43655714-chr6:43743372..43745381,2	K562	blood:

Variant related genes	Relation type
VEGFA	TF binding region
ENSG00000096080	Chromatin interaction
ENSG00000231881	Chromatin interaction
ENSG00000172432	Chromatin interaction
ENSG00000237686	Chromatin interaction
ENSG00000183239	Chromatin interaction
ENSG00000124688	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2010963	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3024997	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3024998	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3025000	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs699946	0.96[ASN][1000 genomes]
rs833060	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs833068	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs833069	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs865577	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]

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	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

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:43740200-43748000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:43740200-43752200	Weak transcription	Aorta	Aorta
3	chr6:43740600-43745400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
4	chr6:43740800-43755600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:43742200-43745000	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
6	chr6:43742600-43745200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:43742600-43746200	Enhancers	Fetal Heart	heart
8	chr6:43742600-43756400	Weak transcription	Primary T cells from cord blood	blood
9	chr6:43742800-43750200	Genic enhancers	Gastric	stomach
10	chr6:43743000-43744800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
11	chr6:43743000-43744800	Genic enhancers	Stomach Mucosa	stomach
12	chr6:43743000-43744800	Enhancers	Spleen	Spleen
13	chr6:43743000-43745000	Genic enhancers	Lung	lung
14	chr6:43743000-43745000	Genic enhancers	HMEC	breast
15	chr6:43743000-43745400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:43743000-43745600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:43743000-43745600	Genic enhancers	Fetal Muscle Trunk	muscle
18	chr6:43743000-43746000	Weak transcription	HSMMtube	muscle
19	chr6:43743000-43747200	Genic enhancers	Liver	Liver
20	chr6:43743000-43751000	Genic enhancers	Left Ventricle	heart
21	chr6:43743000-43766400	Weak transcription	HUVEC	blood vessel
22	chr6:43743200-43744800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:43743200-43744800	Enhancers	Right Atrium	heart
24	chr6:43743200-43745000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:43743200-43745000	Genic enhancers	Fetal Intestine Small	intestine
26	chr6:43743200-43745000	Enhancers	Psoas Muscle	Psoas
27	chr6:43743200-43745000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr6:43743200-43745200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr6:43743200-43745200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr6:43743200-43745200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:43743200-43745200	Weak transcription	Ovary	ovary
32	chr6:43743200-43745400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:43743200-43745600	Genic enhancers	K562	blood
34	chr6:43743200-43745800	Genic enhancers	Fetal Muscle Leg	muscle
35	chr6:43743200-43748800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr6:43743200-43753600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:43743200-43754600	Strong transcription	Dnd41	blood
38	chr6:43743400-43744800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:43743400-43744800	Weak transcription	Brain Substantia Nigra	brain
40	chr6:43743400-43744800	Weak transcription	Fetal Brain Female	brain
41	chr6:43743400-43745000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:43743400-43745000	Weak transcription	Brain Germinal Matrix	brain
43	chr6:43743400-43745000	Genic enhancers	HepG2	liver
44	chr6:43743400-43745200	Weak transcription	Placenta	Placenta
45	chr6:43743400-43745400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:43743400-43745400	Weak transcription	NH-A	brain
47	chr6:43743400-43746200	Weak transcription	Fetal Brain Male	brain
48	chr6:43743400-43753800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:43743400-43754600	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr6:43743400-43754800	Strong transcription	HSMM	muscle

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