Variant report

Variant	rs1340608
Chromosome Location	chr1:85600804-85600805
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85600744..85602624-chr1:85606340..85608066,2	K562	blood:
2	chr1:85596438..85598886-chr1:85599914..85602285,2	K562	blood:
3	chr1:85600190..85603293-chr1:85664973..85667718,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000097096	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17121989	0.88[AFR][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85594800-85614400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:85598400-85602000	Weak transcription	Gastric	stomach
3	chr1:85598400-85603600	Weak transcription	Right Atrium	heart
4	chr1:85598400-85608400	Weak transcription	Pancreas	Pancrea
5	chr1:85598600-85608600	Weak transcription	Left Ventricle	heart
6	chr1:85598800-85602000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:85599400-85601400	Enhancers	Fetal Lung	lung
8	chr1:85599400-85602200	Enhancers	Hela-S3	cervix
9	chr1:85599400-85604400	Enhancers	Fetal Intestine Large	intestine
10	chr1:85599600-85603800	Enhancers	Fetal Intestine Small	intestine
11	chr1:85599800-85602600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:85599800-85602800	Weak transcription	Fetal Heart	heart
13	chr1:85600000-85601400	Enhancers	NHLF	lung
14	chr1:85600200-85601000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:85600200-85602200	Enhancers	Placenta	Placenta
16	chr1:85600200-85604000	Enhancers	Liver	Liver
17	chr1:85600400-85601200	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr1:85600400-85601400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:85600400-85601400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:85600400-85601400	Enhancers	HMEC	breast
21	chr1:85600400-85601400	Enhancers	NHDF-Ad	bronchial
22	chr1:85600400-85601400	Enhancers	NHEK	skin
23	chr1:85600600-85601200	Enhancers	Duodenum Mucosa	Duodenum
24	chr1:85600600-85601200	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr1:85600600-85601400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:85600600-85601400	Enhancers	Fetal Brain Male	brain
27	chr1:85600600-85601400	Enhancers	HepG2	liver
28	chr1:85600600-85601600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:85600600-85601800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:85600600-85602000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:85600600-85603800	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr1:85600800-85601000	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr1:85600800-85601800	Weak transcription	Colonic Mucosa	Colon
34	chr1:85600800-85602000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:85600800-85602000	Weak transcription	Lung	lung
36	chr1:85600800-85602200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:85600800-85602600	Weak transcription	Spleen	Spleen

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