Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:47871874..47874312-chr7:47876088..47879038,2	K562	blood:

rSNPs within LD-proxies of this variant (count:3)

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	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv830991	chr7:47854530-48025996	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs921634	NPC1L1	cis	cerebellum	SCAN
rs921634	POLD2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47852800-47879000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:47855000-47880200	Weak transcription	Lung	lung
3	chr7:47855800-47902400	Weak transcription	Adipose Nuclei	Adipose
4	chr7:47867200-47886000	Weak transcription	Right Atrium	heart
5	chr7:47867800-47886000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr7:47868200-47874400	Weak transcription	Brain Germinal Matrix	brain
7	chr7:47868200-47876800	Weak transcription	Left Ventricle	heart
8	chr7:47868600-47873400	Weak transcription	Fetal Stomach	stomach
9	chr7:47868600-47879200	Weak transcription	Pancreas	Pancrea
10	chr7:47868800-47886000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr7:47869800-47873200	Weak transcription	Spleen	Spleen
12	chr7:47869800-47885400	Weak transcription	HSMMtube	muscle
13	chr7:47870000-47875600	Weak transcription	Fetal Muscle Leg	muscle
14	chr7:47870000-47880200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:47870800-47873800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:47871000-47876000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:47872200-47873600	Enhancers	Primary B cells from cord blood	blood
18	chr7:47872200-47873800	Enhancers	Primary B cells from peripheral blood	blood
19	chr7:47872200-47874000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:47872600-47873400	Enhancers	Fetal Heart	heart
21	chr7:47872800-47873200	Enhancers	Right Ventricle	heart

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