Variant report

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr2:67264865-67265005	HepG2	liver:	n/a	n/a
2	ESR1	chr2:67264844-67265126	ECC-1	luminal epithelium:	n/a	n/a
3	FOXA1	chr2:67264707-67265227	HepG2	liver:	n/a	n/a
4	CEBPB	chr2:67264908-67265212	HepG2	liver:	n/a	n/a
5	ESR1	chr2:67264795-67265237	ECC-1	luminal epithelium:	n/a	n/a
6	TCF7L2	chr2:67264528-67265144	HepG2	liver:	n/a	n/a
7	CHD2	chr2:67264890-67265060	HepG2	liver:	n/a	n/a
8	FOXA1	chr2:67264815-67265103	ECC-1	luminal epithelium:	n/a	n/a
9	TBP	chr2:67264961-67265151	HepG2	liver:	n/a	n/a
10	FOXA1	chr2:67264753-67265243	HepG2	liver:	n/a	n/a
11	FOXA1	chr2:67264785-67265161	ECC-1	luminal epithelium:	n/a	n/a
12	FOXA1	chr2:67264703-67265337	HepG2	liver:	n/a	n/a
13	FOXA2	chr2:67264791-67265243	HepG2	liver:	n/a	n/a
14	FOXA1	chr2:67264695-67265313	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:67258577..67260122-chr2:67263598..67265995,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223859	TF binding region

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7579521	0.90[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap]

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	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2098390	MXD1	cis	parietal	SCAN
rs2098390	FAM136A	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67262600-67265600	Enhancers	Fetal Lung	lung
2	chr2:67264000-67265200	Weak transcription	Pancreas	Pancrea
3	chr2:67264000-67266600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:67264200-67265400	Enhancers	Fetal Kidney	kidney
5	chr2:67264200-67267400	Enhancers	Fetal Intestine Small	intestine
6	chr2:67264600-67265000	Enhancers	Small Intestine	intestine
7	chr2:67264600-67265200	Enhancers	Stomach Mucosa	stomach
8	chr2:67264600-67266000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr2:67264600-67267400	Enhancers	Fetal Intestine Large	intestine
10	chr2:67264800-67265400	Flanking Active TSS	Liver	Liver
11	chr2:67264800-67266000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:67264800-67268200	Enhancers	Duodenum Mucosa	Duodenum

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