Variant report

Variant	rs542599792
Chromosome Location	chr1:94304323-94304324
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94303067..94305245-chr1:94310697..94313072,2	K562	blood:
2	chr1:94302532..94305136-chr1:94310804..94313101,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction
ENSG00000211575	Chromatin interaction
ENSG00000260464	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	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
4	esv33428	chr1:94304183-94304394	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94283400-94310000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr1:94284200-94306200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:94284200-94311200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:94290200-94311400	Weak transcription	Aorta	Aorta
5	chr1:94294200-94305400	Weak transcription	A549	lung
6	chr1:94295400-94310000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:94298200-94307000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:94298800-94305000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:94299000-94308600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:94299400-94310200	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:94300600-94309400	Weak transcription	Dnd41	blood
12	chr1:94300800-94311600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:94301400-94309600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:94302000-94305000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:94302200-94309600	Weak transcription	Placenta	Placenta
16	chr1:94302200-94311200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:94302200-94311200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:94302800-94304600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:94302800-94309600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr1:94303000-94304400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:94303000-94305800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:94303200-94304400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:94303200-94309200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:94303200-94310200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:94303800-94306000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:94303800-94306800	Weak transcription	Spleen	Spleen
27	chr1:94303800-94311600	Weak transcription	Gastric	stomach
28	chr1:94304000-94311200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:94304200-94311000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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