Variant report

Variant	rs72866508
Chromosome Location	chr4:77434163-77434164
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	SMC3	chr4:77432114-77434548	SK-N-SH	brain:	n/a	chr4:77432975-77432985 chr4:77433754-77433761 chr4:77432399-77432413
2	POLR2A	chr4:77434122-77434170	ProgFib	skin:	n/a	n/a
3	RAD21	chr4:77433948-77434325	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr4:77434020-77434170	BE2_C	brain:	n/a	n/a
5	RAD21	chr4:77432096-77434616	SK-N-SH	brain:	n/a	chr4:77432398-77432417
6	SMC3	chr4:77434127-77435104	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:77433585..77435838-chr4:77609086..77611047,2	MCF-7	breast:
2	chr4:77432808..77434478-chr4:77654997..77656576,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249278	TF binding region
ENSG00000138771	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs72862952	1.00[AMR][1000 genomes]
rs72862990	1.00[AMR][1000 genomes]
rs72864608	1.00[AMR][1000 genomes]
rs72864636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72864651	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759262	chr4:77264596-77455405	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv2757069	chr4:77392092-77455405	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77420200-77435000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:77420200-77435200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:77420400-77455800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:77424400-77439200	Weak transcription	Fetal Heart	heart
5	chr4:77432600-77435000	Enhancers	Fetal Intestine Small	intestine
6	chr4:77432600-77435000	Enhancers	Stomach Mucosa	stomach
7	chr4:77432600-77435200	Enhancers	Fetal Intestine Large	intestine
8	chr4:77432800-77434400	Enhancers	Liver	Liver
9	chr4:77433000-77434200	Enhancers	Pancreas	Pancrea
10	chr4:77433000-77434200	Enhancers	Small Intestine	intestine
11	chr4:77433000-77435000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr4:77433000-77435000	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr4:77433000-77435400	Enhancers	Hela-S3	cervix
14	chr4:77433000-77436600	Weak transcription	HUVEC	blood vessel
15	chr4:77433200-77434200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:77433200-77434800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:77433400-77434400	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr4:77433600-77434400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:77433600-77434400	Enhancers	Lung	lung
20	chr4:77433600-77437200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr4:77433600-77440200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:77433600-77447600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:77434000-77434400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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