Variant report

Variant	rs565635080
Chromosome Location	chr1:85845117-85845118
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85839536..85841245-chr1:85843364..85846261,2	K562	blood:
2	chr1:85843890..85846384-chr1:85930341..85931976,2	MCF-7	breast:
3	chr1:85839315..85841036-chr1:85844742..85846261,2	K562	blood:

Variant related genes	Relation type
ENSG00000153904	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1008877	chr1:85843238-85897570	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3322419	chr1:85844503-85845234	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85839400-85846400	Weak transcription	Small Intestine	intestine
2	chr1:85839800-85864200	Weak transcription	Aorta	Aorta
3	chr1:85840000-85845200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:85840200-85845200	Weak transcription	HepG2	liver
5	chr1:85840200-85845400	Weak transcription	NHLF	lung
6	chr1:85840200-85845600	Weak transcription	Psoas Muscle	Psoas
7	chr1:85840400-85845200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:85840400-85845200	Weak transcription	HSMM	muscle
9	chr1:85840400-85845400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:85840400-85848000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:85841200-85851400	Weak transcription	Pancreas	Pancrea
12	chr1:85841200-85859800	Weak transcription	NH-A	brain
13	chr1:85841800-85848000	Weak transcription	NHDF-Ad	bronchial
14	chr1:85842000-85845200	Weak transcription	Fetal Lung	lung
15	chr1:85842000-85850800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:85842400-85845400	Weak transcription	Fetal Kidney	kidney
17	chr1:85842400-85847200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:85842600-85846000	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:85842600-85847800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:85842800-85847200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:85842800-85847600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:85843000-85845200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:85844200-85845200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:85844200-85845400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr1:85844200-85845800	Enhancers	Fetal Muscle Leg	muscle
26	chr1:85844800-85845400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:85844800-85845400	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr1:85844800-85845600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:85844800-85846200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:85844800-85846200	Enhancers	Liver	Liver
31	chr1:85844800-85846200	Enhancers	Brain Anterior Caudate	brain
32	chr1:85844800-85846200	Enhancers	Fetal Stomach	stomach
33	chr1:85844800-85846200	Enhancers	Ovary	ovary
34	chr1:85845000-85848000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:85845000-85852800	Strong transcription	Osteobl	bone
36	chr1:85845000-85870000	Weak transcription	HSMMtube	muscle

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