Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:9786319..9790295-chr2:9795169..9796873,3	K562	blood:
2	chr2:9777475..9780124-chr2:9787300..9789724,2	K562	blood:
3	chr2:9781325..9786143-chr2:9786474..9789625,5	K562	blood:
4	chr2:9787484..9789200-chr2:9888207..9889729,2	K562	blood:
5	chr2:9782654..9789334-chr2:9794560..9799702,7	MCF-7	breast:
6	chr2:9786319..9789288-chr2:9795169..9797264,3	K562	blood:
7	chr2:9769623..9772219-chr2:9787562..9790407,4	MCF-7	breast:
8	chr2:9787645..9790270-chr2:9840801..9843386,2	K562	blood:

Variant related genes	Relation type
ENSG00000240687	Chromatin interaction
ENSG00000134308	Chromatin interaction

rSNPs within LD-proxies of this variant (count:29)

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	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1011802	chr2:9766171-9808284	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv518363	chr2:9777229-9788315	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9778800-9788400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:9779600-9789400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:9783200-9788400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:9783200-9789200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:9784000-9792400	Weak transcription	Brain Substantia Nigra	brain
6	chr2:9785800-9789000	Weak transcription	Gastric	stomach
7	chr2:9786600-9788400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:9786600-9788600	Weak transcription	Pancreas	Pancrea
9	chr2:9786600-9792400	Weak transcription	Spleen	Spleen
10	chr2:9786800-9792600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:9787000-9788400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:9787000-9792400	Weak transcription	Brain Angular Gyrus	brain
13	chr2:9787200-9788600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:9787200-9792600	Weak transcription	Ovary	ovary
15	chr2:9787600-9790000	Enhancers	Thymus	Thymus
16	chr2:9787800-9790600	Enhancers	Fetal Thymus	thymus
17	chr2:9788000-9788400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:9788000-9789200	Enhancers	Fetal Heart	heart
19	chr2:9788000-9789400	Bivalent Enhancer	HepG2	liver
20	chr2:9788000-9789600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr2:9788000-9791000	Enhancers	Primary T cells fromperipheralblood	blood

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