Variant report

Variant	rs2749935
Chromosome Location	chr6:131889881-131889882
allele	A/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	POLR2A	chr6:131889735-131890347	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131889628..131892351-chr6:131895518..131898094,2	K562	blood:

Variant related genes	Relation type
ARG1	TF binding region
ENSG00000118520	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2608897	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2608898	0.82[ASN][1000 genomes]
rs2608976	0.86[JPT][hapmap]
rs2781659	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2781660	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs2781661	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2781662	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2781663	0.82[ASN][1000 genomes]
rs2781664	0.82[ASN][1000 genomes]
rs2781665	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2781666	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2781667	0.90[JPT][hapmap];0.82[ASN][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	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv2829868	chr6:131729859-131898208	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv886668	chr6:131814865-131954797	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131878400-131891600	Weak transcription	HepG2	liver
2	chr6:131883400-131914000	Weak transcription	Pancreas	Pancrea
3	chr6:131883800-131896000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:131886800-131899400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:131887800-131910600	Weak transcription	Small Intestine	intestine
6	chr6:131888200-131903400	Weak transcription	Fetal Stomach	stomach
7	chr6:131888200-131908800	Weak transcription	Brain Angular Gyrus	brain
8	chr6:131888400-131895600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:131888400-131897800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:131888400-131902000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:131888400-131902200	Weak transcription	GM12878-XiMat	blood
12	chr6:131888600-131900000	Weak transcription	Left Ventricle	heart
13	chr6:131888600-131905800	Weak transcription	Aorta	Aorta
14	chr6:131888800-131894000	Weak transcription	Primary B cells from cord blood	blood
15	chr6:131889000-131894400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:131889600-131890600	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr6:131889600-131897000	Weak transcription	Fetal Intestine Large	intestine
18	chr6:131889600-131898000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:131889600-131898400	Weak transcription	Fetal Lung	lung
20	chr6:131889600-131900000	Weak transcription	Ovary	ovary
21	chr6:131889600-131902200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:131889600-131923200	Weak transcription	Esophagus	oesophagus
23	chr6:131889800-131890000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr6:131889800-131890200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:131889800-131891000	Weak transcription	Primary T cells from cord blood	blood

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