Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212351236..212353936-chr1:212380714..212382425,3	K562	blood:

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

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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs17719838	C1orf74	cis	cerebellum	SCAN
rs17719838	SYT14	cis	cerebellum	SCAN
rs17719838	ATF3	cis	parietal	SCAN
rs17719838	SERTAD4	cis	cerebellum	SCAN
rs17719838	RP11-15I11.3	cis	lung	GTEx
rs17719838	RP11-15I11.3	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212336800-212359600	Weak transcription	Dnd41	blood
2	chr1:212350600-212359600	Weak transcription	K562	blood
3	chr1:212351600-212354200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:212352000-212354200	Enhancers	HMEC	breast
5	chr1:212352000-212354400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:212352200-212354000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:212352400-212354200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:212352400-212354200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:212352600-212354000	Enhancers	Esophagus	oesophagus
10	chr1:212352600-212355800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:212352600-212357200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr1:212352600-212357200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr1:212352800-212356000	Weak transcription	Adipose Nuclei	Adipose
14	chr1:212353000-212354000	Enhancers	NHDF-Ad	bronchial
15	chr1:212353000-212354400	Enhancers	NHEK	skin
16	chr1:212353000-212357400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:212353000-212357400	Weak transcription	Spleen	Spleen
18	chr1:212353000-212361200	Weak transcription	Right Atrium	heart
19	chr1:212353200-212354600	Weak transcription	Left Ventricle	heart
20	chr1:212353200-212357400	Weak transcription	Placenta	Placenta
21	chr1:212353200-212361200	Weak transcription	Lung	lung

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