Variant report

Variant	rs6688331
Chromosome Location	chr1:84993546-84993547
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84969735..84979623-chr1:84983174..84994888,16	K562	blood:

Variant related genes	Relation type
ENSG00000122432	Chromatin interaction
ENSG00000174021	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11800617	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11801376	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11801784	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11802361	1.00[EUR][1000 genomes]
rs11806835	1.00[EUR][1000 genomes]
rs2911574	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34769319	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57295979	1.00[EUR][1000 genomes]
rs6576716	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72948493	1.00[EUR][1000 genomes]
rs72948498	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72950307	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72950320	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72950348	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72950351	1.00[EUR][1000 genomes]
rs72950354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72950365	1.00[EUR][1000 genomes]
rs72950367	1.00[EUR][1000 genomes]
rs72950382	1.00[EUR][1000 genomes]
rs72952106	1.00[EUR][1000 genomes]
rs72952111	1.00[EUR][1000 genomes]
rs72952122	1.00[EUR][1000 genomes]
rs72952123	1.00[EUR][1000 genomes]
rs7517918	1.00[EUR][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	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84973000-85003200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:84973200-85003200	Weak transcription	Adipose Nuclei	Adipose
3	chr1:84973400-84993800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:84973400-84994400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:84973400-84995200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:84973400-85002000	Weak transcription	Primary T cells from cord blood	blood
7	chr1:84975200-85019600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:84975800-85030200	Weak transcription	Fetal Intestine Small	intestine
9	chr1:84979600-84994400	Weak transcription	Primary B cells from cord blood	blood
10	chr1:84981600-85012200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:84982400-85026800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:84985000-84994800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:84987000-85003200	Weak transcription	Left Ventricle	heart
14	chr1:84988200-85020600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:84991000-85034200	Weak transcription	Esophagus	oesophagus
16	chr1:84991000-85038200	Weak transcription	Thymus	Thymus
17	chr1:84991200-84993800	Weak transcription	Liver	Liver
18	chr1:84991800-85026800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:84992000-84993600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr1:84992000-85003200	Weak transcription	GM12878-XiMat	blood
21	chr1:84992000-85003400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:84992200-85003000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:84992200-85026000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:84992400-85019400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:84992400-85038800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:84992600-85005600	Weak transcription	Osteobl	bone
27	chr1:84992600-85021200	Weak transcription	NHDF-Ad	bronchial
28	chr1:84993200-85025000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:84993400-84993800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
30	chr1:84993400-85025800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr1:84993400-85027000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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