Variant report

Variant	rs6540691
Chromosome Location	chr1:211776775-211776776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211767890..211769411-chr1:211775688..211777230,2	MCF-7	breast:
2	chr1:211750136..211754035-chr1:211775376..211778750,5	MCF-7	breast:
3	chr1:211772283..211774202-chr1:211774309..211776934,2	MCF-7	breast:
4	chr1:211749761..211758387-chr1:211774495..211787871,24	K562	blood:
5	chr1:211749584..211755940-chr1:211774898..211785859,28	K562	blood:
6	chr1:211759135..211762333-chr1:211776227..211780241,4	K562	blood:
7	chr1:211770870..211774910-chr1:211776208..211782840,10	K562	blood:
8	chr1:211775675..211778278-chr1:211779018..211782912,5	K562	blood:
9	chr1:211775676..211777293-chr1:211832136..211834585,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170385	Chromatin interaction
ENSG00000261314	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs35258060	0.89[ASN][1000 genomes]
rs4951536	0.80[CEU][hapmap]
rs6661565	1.00[JPT][hapmap]
rs6702177	0.89[ASN][1000 genomes]
rs676520	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7520829	0.89[ASN][1000 genomes]
rs7528646	0.89[ASN][1000 genomes]
rs894856	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9430073	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9430075	1.00[JPT][hapmap];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211771600-211786200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:211772200-211778000	Enhancers	Placenta	Placenta
3	chr1:211772600-211780600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:211775200-211776800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:211775200-211777000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr1:211775200-211777400	Enhancers	NHDF-Ad	bronchial
7	chr1:211775200-211777600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:211775200-211778600	Enhancers	Fetal Intestine Small	intestine
9	chr1:211775400-211777000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr1:211775400-211777000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr1:211775400-211777000	Enhancers	Hela-S3	cervix
12	chr1:211775400-211777400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:211775400-211777400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:211775400-211777600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:211775400-211777600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:211775400-211777600	Enhancers	Duodenum Mucosa	Duodenum
17	chr1:211775400-211777600	Enhancers	HMEC	breast
18	chr1:211775400-211777600	Enhancers	NHEK	skin
19	chr1:211775400-211778000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:211775400-211778400	Enhancers	Liver	Liver
21	chr1:211775400-211778800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:211775600-211777000	Enhancers	Adipose Nuclei	Adipose
23	chr1:211775600-211777200	Enhancers	NHLF	lung
24	chr1:211775800-211777200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:211776000-211776800	Weak transcription	Esophagus	oesophagus
26	chr1:211776000-211777000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:211776000-211777000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:211776000-211777200	Enhancers	Osteobl	bone
29	chr1:211776000-211777800	Enhancers	K562	blood
30	chr1:211776000-211778400	Weak transcription	GM12878-XiMat	blood
31	chr1:211776200-211777000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:211776200-211778000	Enhancers	Fetal Intestine Large	intestine
33	chr1:211776200-211778000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr1:211776200-211779200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr1:211776400-211776800	Weak transcription	Stomach Mucosa	stomach
36	chr1:211776400-211777000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:211776400-211777000	Enhancers	NH-A	brain
38	chr1:211776400-211777200	Enhancers	Gastric	stomach
39	chr1:211776400-211779000	Weak transcription	Primary B cells from cord blood	blood
40	chr1:211776400-211779800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:211776600-211776800	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr1:211776600-211777000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:211776600-211777000	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr1:211776600-211777000	Enhancers	HepG2	liver
45	chr1:211776600-211777400	Enhancers	A549	lung
46	chr1:211776600-211777800	Weak transcription	Small Intestine	intestine

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