Variant report

Variant	rs2002832
Chromosome Location	chr15:79242739-79242740
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	NR3C1	chr15:79242589-79242904	A549	lung:	n/a	chr15:79242737-79242763 chr15:79242737-79242763 chr15:79242716-79242730 chr15:79242737-79242763 chr15:79242737-79242763
2	NR3C1	chr15:79242592-79242814	A549	lung:	n/a	chr15:79242737-79242763 chr15:79242737-79242763 chr15:79242716-79242730 chr15:79242737-79242763 chr15:79242737-79242763
3	MYBL2	chr15:79242578-79243002	HepG2	liver:	n/a	n/a
4	EP300	chr15:79242720-79243052	HepG2	liver:	n/a	n/a
5	CEBPB	chr15:79242679-79243043	HepG2	liver:	n/a	n/a
6	EP300	chr15:79242633-79243050	HepG2	liver:	n/a	n/a
7	HNF4A	chr15:79242642-79243034	HepG2	liver:	n/a	chr15:79242889-79242903 chr15:79242825-79242833 chr15:79242889-79242903 chr15:79242890-79242898 chr15:79242890-79242902 chr15:79242888-79242903 chr15:79242824-79242832 chr15:79242890-79242903 chr15:79242889-79242902 chr15:79242889-79242903
8	HNF4G	chr15:79242617-79243025	HepG2	liver:	n/a	chr15:79242889-79242903 chr15:79242825-79242833 chr15:79242889-79242903 chr15:79242890-79242898 chr15:79242890-79242902 chr15:79242824-79242832 chr15:79242890-79242903 chr15:79242889-79242902 chr15:79242889-79242903
9	MBD4	chr15:79242646-79243001	HepG2	liver:	n/a	n/a
10	HNF4A	chr15:79242668-79243079	HepG2	liver:	n/a	chr15:79242889-79242903 chr15:79242825-79242833 chr15:79242889-79242903 chr15:79242890-79242898 chr15:79242890-79242902 chr15:79242888-79242903 chr15:79242824-79242832 chr15:79242890-79242903 chr15:79242889-79242902 chr15:79242889-79242903
11	HSF1	chr15:79242644-79242998	HepG2	liver:	n/a	chr15:79242820-79242835
12	NR3C1	chr15:79242452-79242926	A549	lung:	n/a	chr15:79242737-79242763 chr15:79242737-79242763 chr15:79242716-79242730 chr15:79242737-79242763 chr15:79242737-79242763
13	CEBPB	chr15:79242705-79242939	HepG2	liver:	n/a	n/a
14	CEBPD	chr15:79242673-79242912	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:79223545..79225984-chr15:79241136..79243673,2	MCF-7	breast:
2	chr15:79242274..79244417-chr15:79247042..79249871,2	MCF-7	breast:
3	chr15:79242281..79244797-chr15:79245388..79247150,2	K562	blood:
4	chr15:79238657..79240315-chr15:79242629..79245251,2	K562	blood:

Variant related genes	Relation type
CTSH	TF binding region
ENSG00000103811	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12443215	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16970356	1.00[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2289696	0.85[JPT][hapmap]
rs3759857	0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4421942	1.00[JPT][hapmap]
rs4628927	1.00[JPT][hapmap]
rs4778730	0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs61117503	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7163131	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79237800-79243600	Weak transcription	Right Atrium	heart
2	chr15:79237800-79243600	Weak transcription	Spleen	Spleen
3	chr15:79237800-79244200	Weak transcription	Psoas Muscle	Psoas
4	chr15:79238000-79243200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr15:79238000-79243400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr15:79238600-79244200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:79238600-79252600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:79239000-79243600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:79239800-79243200	Enhancers	HepG2	liver
10	chr15:79240800-79245400	Enhancers	Stomach Mucosa	stomach
11	chr15:79241000-79245200	Enhancers	Liver	Liver
12	chr15:79241600-79244000	Enhancers	NHEK	skin
13	chr15:79241600-79244200	Enhancers	Gastric	stomach
14	chr15:79241600-79245000	Enhancers	Pancreas	Pancrea
15	chr15:79241800-79242800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:79241800-79242800	Enhancers	Fetal Intestine Small	intestine
17	chr15:79241800-79244800	Enhancers	Fetal Intestine Large	intestine
18	chr15:79242000-79245400	Enhancers	Duodenum Mucosa	Duodenum
19	chr15:79242200-79242800	Enhancers	Small Intestine	intestine
20	chr15:79242200-79244400	Enhancers	Fetal Kidney	kidney
21	chr15:79242200-79244800	Enhancers	Lung	lung
22	chr15:79242400-79242800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr15:79242400-79243400	Weak transcription	Fetal Lung	lung
24	chr15:79242400-79243800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr15:79242400-79244000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr15:79242400-79244200	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr15:79242400-79244400	Enhancers	Adipose Nuclei	Adipose
28	chr15:79242400-79244800	Enhancers	Left Ventricle	heart
29	chr15:79242600-79243000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:79242600-79243200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:79242600-79244000	Weak transcription	Esophagus	oesophagus
32	chr15:79242600-79245000	Enhancers	Rectal Mucosa Donor 31	rectum

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