Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:178497027..178498648-chr2:178505915..178508252,2	K562	blood:
2	chr2:178494059..178496707-chr2:178497248..178499887,2	K562	blood:
3	chr2:178482484..178484569-chr2:178497443..178499895,2	K562	blood:
4	chr17:57920241..57922114-chr2:178495289..178498236,2	MCF-7	breast:
5	chr2:178489030..178493776-chr2:178494411..178499893,10	K562	blood:

Variant related genes	Relation type
ENSG00000197557	Chromatin interaction

rSNPs within LD-proxies of this variant (count:16)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv583689	chr2:178468008-178509820	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr2:178484000-178499200	Weak transcription	Pancreas	Pancrea
2	chr2:178488000-178498800	Weak transcription	Fetal Kidney	kidney
3	chr2:178491400-178498400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:178491400-178498800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:178493200-178498800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:178494200-178497800	Weak transcription	Brain Angular Gyrus	brain
7	chr2:178494200-178498000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:178494200-178498200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:178494200-178499200	Weak transcription	Left Ventricle	heart
10	chr2:178494400-178498000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:178494400-178498400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:178494800-178498800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:178495000-178497800	Weak transcription	Fetal Brain Female	brain
14	chr2:178495400-178497800	Weak transcription	Fetal Brain Male	brain
15	chr2:178495600-178498800	Weak transcription	Aorta	Aorta
16	chr2:178496800-178498000	Weak transcription	K562	blood
17	chr2:178497200-178499400	Enhancers	Dnd41	blood
18	chr2:178497400-178498600	Enhancers	GM12878-XiMat	blood
19	chr2:178497400-178498800	Enhancers	Brain Hippocampus Middle	brain
20	chr2:178497600-178498200	Enhancers	Fetal Muscle Leg	muscle
21	chr2:178497600-178499000	Enhancers	Brain Germinal Matrix	brain

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