Variant report

Variant	rs376489433
Chromosome Location	chr1:94294821-94294822
allele	C/T
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	chr1:94294545..94296668-chr1:94310661..94312419,2	K562	blood:

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

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

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	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:30 , 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	chr1:94284200-94306200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:94284200-94311200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:94284400-94296000	Weak transcription	Fetal Intestine Small	intestine
6	chr1:94286600-94295600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr1:94290000-94296400	Enhancers	Placenta	Placenta
8	chr1:94290200-94311400	Weak transcription	Aorta	Aorta
9	chr1:94292600-94303200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:94292800-94295400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr1:94292800-94295600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:94293000-94295000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:94293000-94295000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:94293000-94295400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr1:94293200-94295000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:94293200-94296600	Weak transcription	Lung	lung
17	chr1:94293600-94295000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:94293800-94295400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:94293800-94295400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:94294000-94295000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:94294000-94295200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr1:94294000-94302200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:94294200-94295600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr1:94294200-94297800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:94294200-94305400	Weak transcription	A549	lung
26	chr1:94294400-94295200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr1:94294800-94295000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:94294800-94295400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr1:94294800-94296200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:94294800-94296200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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