Variant report

Variant	rs373204697
Chromosome Location	chr8:94970251-94970252
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr8:94969934-94970299	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:94969972-94970295	SK-N-SH	brain:	n/a	n/a
3	FOXA1	chr8:94969993-94970355	HepG2	liver:	n/a	n/a
4	FOXA2	chr8:94970216-94970694	A549	lung:	n/a	n/a
5	TCF12	chr8:94969887-94970557	SK-N-SH	brain:	n/a	n/a
6	CEBPB	chr8:94969989-94970291	K562	blood:	n/a	chr8:94970130-94970143 chr8:94970130-94970141 chr8:94970130-94970143 chr8:94970132-94970141 chr8:94970132-94970143
7	TCF12	chr8:94969904-94970535	A549	lung:	n/a	n/a
8	BACH1	chr8:94970213-94970324	H1-hESC	embryonic stem cell:	n/a	n/a
9	GATA3	chr8:94969946-94970706	MCF-7	breast:	n/a	chr8:94970229-94970238
10	GATA3	chr8:94969827-94970856	MCF-7	breast:	n/a	chr8:94970229-94970238
11	FOXA2	chr8:94970005-94970644	A549	lung:	n/a	n/a
12	GATA3	chr8:94969851-94970415	A549	lung:	n/a	chr8:94970229-94970238
13	CEBPB	chr8:94969873-94970337	MCF-7	breast:	n/a	chr8:94970130-94970143 chr8:94970130-94970141 chr8:94970130-94970143 chr8:94970132-94970141 chr8:94970132-94970143
14	CEBPB	chr8:94969989-94970297	HepG2	liver:	n/a	chr8:94970130-94970143 chr8:94970130-94970141 chr8:94970130-94970143 chr8:94970132-94970141 chr8:94970132-94970143
15	GATA3	chr8:94969747-94970802	SK-N-SH	brain:	n/a	chr8:94970229-94970238
16	POLR2A	chr8:94970163-94970704	HCT-116	colon:	n/a	n/a
17	FOXA1	chr8:94969966-94970603	HepG2	liver:	n/a	n/a
18	CEBPB	chr8:94969881-94970392	MCF-7	breast:	n/a	chr8:94970130-94970143 chr8:94970130-94970141 chr8:94970130-94970143 chr8:94970132-94970141 chr8:94970132-94970143
19	FOXA1	chr8:94969919-94970294	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:94927101..94932217-chr8:94967169..94973451,6	MCF-7	breast:
2	chr8:94836556..94838849-chr8:94970213..94972114,2	MCF-7	breast:

Variant related genes	Relation type
RPL34P18	TF binding region
ENSG00000164951	Chromatin interaction
ENSG00000264448	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754970	chr8:94675324-94991724	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv982128	chr8:94966644-94973304	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv971337	chr8:94969168-94970266	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:94965600-94971800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:94968000-94973200	Weak transcription	Ovary	ovary
3	chr8:94968000-94973400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:94968600-94973400	Enhancers	Fetal Intestine Large	intestine
5	chr8:94968600-94973600	Enhancers	Fetal Intestine Small	intestine
6	chr8:94968800-94970800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr8:94969400-94971400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:94969600-94970400	Bivalent Enhancer	HepG2	liver
9	chr8:94969600-94970600	Enhancers	Pancreas	Pancrea
10	chr8:94969600-94970800	Enhancers	Liver	Liver
11	chr8:94969800-94970600	Enhancers	Fetal Lung	lung
12	chr8:94970000-94970400	Enhancers	Brain Cingulate Gyrus	brain
13	chr8:94970000-94970600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:94970000-94970600	Enhancers	Brain Anterior Caudate	brain
15	chr8:94970000-94970600	Enhancers	Stomach Mucosa	stomach
16	chr8:94970200-94970400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr8:94970200-94970400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:94970200-94970400	Enhancers	Left Ventricle	heart
19	chr8:94970200-94970600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:94970200-94970600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr8:94970200-94970600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:94970200-94970600	Enhancers	Fetal Brain Male	brain
23	chr8:94970200-94970600	Enhancers	Fetal Muscle Leg	muscle
24	chr8:94970200-94970600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr8:94970200-94970600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr8:94970200-94970600	Enhancers	HMEC	breast
27	chr8:94970200-94970800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:94970200-94973800	Enhancers	HUVEC	blood vessel

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