Variant report

Variant	rs373897566
Chromosome Location	chr1:93307367-93307368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB33	chr1:93307234-93307489	K562	blood:	n/a	n/a
2	POLR2A	chr1:93305800-93310164	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:93304734-93310132	GM12891	blood:	n/a	n/a
4	EP300	chr1:93307239-93307492	T-47D	breast:	n/a	n/a
5	SPI1	chr1:93307270-93307390	GM12891	blood:	n/a	n/a
6	POLR2A	chr1:93307327-93307401	K562	blood:	n/a	n/a
7	CTCF	chr1:93307262-93307475	T-47D	breast:	n/a	n/a
8	POLR2A	chr1:93306161-93310316	Hela-S3	cervix:	n/a	n/a
9	SPI1	chr1:93307294-93307439	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:93307016-93309802	K562	blood:	n/a	n/a
11	POLR2A	chr1:93307248-93310350	SK-N-MC	brain:	n/a	n/a
12	SPI1	chr1:93307290-93307456	GM12891	blood:	n/a	n/a
13	POLR2A	chr1:93301216-93310285	K562	blood:	n/a	n/a
14	POLR2A	chr1:93307268-93310243	H1-hESC	embryonic stem cell:	n/a	n/a
15	SIN3AK20	chr1:93307284-93307467	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr1:93304662-93310254	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr1:93307329-93307371	Hela-S3	cervix:	n/a	n/a
18	SP1	chr1:93307234-93307499	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr1:93307220-93309952	PFSK-1	brain:	n/a	n/a
20	POLR2A	chr1:93307265-93309977	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:93211573..93213718-chr1:93306717..93309071,2	K562	blood:
2	chr1:93251519..93253551-chr1:93306747..93308884,2	K562	blood:
3	chr1:93248499..93251010-chr1:93306404..93307920,2	K562	blood:
4	chr1:93250918..93254010-chr1:93306747..93309482,3	K562	blood:
5	chr1:93307013..93308611-chr1:93460458..93462751,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000207022	TF binding region
ENSG00000067208	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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv530047	chr1:93273425-93308213	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv508393	chr1:93290513-93344924	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv946079	chr1:93307188-93307819	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93299200-93310400	Strong transcription	Fetal Muscle Trunk	muscle
2	chr1:93299400-93309200	Strong transcription	Placenta Amnion	Placenta Amnion
3	chr1:93299600-93309000	Weak transcription	Esophagus	oesophagus
4	chr1:93299600-93309800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:93299600-93310000	Strong transcription	Placenta	Placenta
6	chr1:93299600-93310400	Strong transcription	Fetal Thymus	thymus
7	chr1:93299800-93310600	Strong transcription	Fetal Intestine Large	intestine
8	chr1:93299800-93311600	Strong transcription	Fetal Muscle Leg	muscle
9	chr1:93300000-93309800	Strong transcription	Thymus	Thymus
10	chr1:93300000-93310000	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:93300000-93310000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:93300000-93310200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:93300200-93308000	Strong transcription	Colonic Mucosa	Colon
14	chr1:93300200-93309200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:93300200-93310000	Strong transcription	HSMMtube	muscle
16	chr1:93300200-93310200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr1:93300200-93310400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:93300400-93310000	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr1:93300400-93316000	Strong transcription	Primary B cells from cord blood	blood
20	chr1:93300600-93308800	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr1:93300600-93309200	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:93300600-93310000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:93300800-93309000	Weak transcription	Spleen	Spleen
24	chr1:93300800-93310000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:93300800-93310200	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr1:93300800-93310200	Strong transcription	HSMM	muscle
27	chr1:93300800-93310400	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:93301000-93309600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:93301000-93309800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:93301000-93310000	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr1:93301000-93310200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:93301000-93310200	Strong transcription	Brain Germinal Matrix	brain
33	chr1:93301000-93318400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr1:93301400-93311600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:93301600-93310600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr1:93302000-93310200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:93302000-93310400	Strong transcription	Stomach Smooth Muscle	stomach
38	chr1:93302200-93310000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:93302400-93307400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:93302400-93310200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:93302600-93310200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:93302600-93310200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:93302600-93310200	Strong transcription	Primary hematopoietic stem cells	blood
44	chr1:93303000-93317200	Weak transcription	Right Ventricle	heart
45	chr1:93303400-93310200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:93303600-93309800	Strong transcription	K562	blood
47	chr1:93303800-93309800	Strong transcription	A549	lung
48	chr1:93303800-93310000	Strong transcription	Brain Substantia Nigra	brain
49	chr1:93303800-93310000	Strong transcription	NH-A	brain
50	chr1:93303800-93310400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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