Variant report

Variant	rs7545147
Chromosome Location	chr1:94294473-94294474
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94294008..94296854-chr1:94310661..94313251,3	K562	blood:
2	chr1:94279623..94281366-chr1:94292858..94294814,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000211575	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000260464	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6657088	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508415	chr1:94256122-94305339	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv1822452	chr1:94278128-94320233	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
3	esv1003322	chr1:94285785-94294520	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv546832	chr1:94288524-94294492	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv1831177	chr1:94288524-94304239	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv998755	chr1:94294015-94341712	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 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	chr1:94279600-94302800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:94283400-94310000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:94284000-94294600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:94284200-94306200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr1:94284200-94311200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:94284400-94296000	Weak transcription	Fetal Intestine Small	intestine
7	chr1:94286400-94294800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:94286600-94295600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr1:94290000-94296400	Enhancers	Placenta	Placenta
10	chr1:94290200-94311400	Weak transcription	Aorta	Aorta
11	chr1:94291200-94294800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:94292400-94294800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:94292400-94294800	Enhancers	HepG2	liver
14	chr1:94292600-94294800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr1:94292600-94303200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:94292800-94294800	Enhancers	HSMM	muscle
17	chr1:94292800-94295400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr1:94292800-94295600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr1:94293000-94294800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr1:94293000-94295000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:94293000-94295000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:94293000-94295400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr1:94293200-94294600	Weak transcription	HSMMtube	muscle
24	chr1:94293200-94294800	Enhancers	HMEC	breast
25	chr1:94293200-94294800	Enhancers	NHEK	skin
26	chr1:94293200-94295000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:94293200-94296600	Weak transcription	Lung	lung
28	chr1:94293600-94294800	Enhancers	Esophagus	oesophagus
29	chr1:94293600-94295000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:94293800-94295400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr1:94293800-94295400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr1:94294000-94295000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr1:94294000-94295200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:94294000-94302200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:94294200-94295600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr1:94294200-94297800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:94294200-94305400	Weak transcription	A549	lung
38	chr1:94294400-94295200	Enhancers	HUES6 Cell Line	embryonic stem cell

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