Variant report

Variant	rs546347992
Chromosome Location	chr1:85187459-85187460
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78544669..78546952-chr1:85187355..85190224,2	K562	blood:
2	chr1:85150908..85155231-chr1:85184814..85188587,5	K562	blood:
3	chr1:85155152..85157036-chr1:85185986..85188079,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117155	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3511544	chr1:85187067-85187518	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv3511545	chr1:85187067-85187518	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85181800-85190200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr1:85182000-85189600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:85184200-85190000	Enhancers	Fetal Intestine Large	intestine
4	chr1:85184400-85189000	Enhancers	Fetal Intestine Small	intestine
5	chr1:85184600-85188000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:85184600-85188600	Enhancers	Duodenum Mucosa	Duodenum
7	chr1:85184600-85188800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:85184800-85187600	Enhancers	Brain Germinal Matrix	brain
9	chr1:85184800-85187600	Enhancers	NHLF	lung
10	chr1:85185400-85187600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:85185600-85188400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:85185800-85189800	Enhancers	NHDF-Ad	bronchial
13	chr1:85186000-85187600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:85186000-85187600	Enhancers	Colon Smooth Muscle	Colon
15	chr1:85186000-85189000	Enhancers	Liver	Liver
16	chr1:85186200-85187600	Enhancers	Primary T cells from cord blood	blood
17	chr1:85186200-85189800	Enhancers	Rectal Smooth Muscle	rectum
18	chr1:85186400-85188400	Weak transcription	Stomach Mucosa	stomach
19	chr1:85186400-85189000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:85186400-85189400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:85186600-85190600	Enhancers	HepG2	liver
22	chr1:85186800-85187600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:85186800-85188000	Enhancers	Small Intestine	intestine
24	chr1:85187000-85187600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:85187200-85188200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:85187200-85188800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:85187200-85192000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:85187400-85189000	Enhancers	K562	blood
29	chr1:85187400-85189000	Weak transcription	Osteobl	bone
30	chr1:85187400-85191600	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:85187400-85191800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:85187400-85192000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:85187400-85192000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:85187400-85192000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:85187400-85192000	Weak transcription	NHEK	skin
36	chr1:85187400-85192400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:85187400-85192600	Weak transcription	Fetal Lung	lung
38	chr1:85187400-85193000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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