Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr7:80553297-80553713	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:80553168..80555435-chr7:81083698..81087429,3	MCF-7	breast:
2	chr7:80550795..80553784-chr7:81092068..81094746,3	MCF-7	breast:
3	chr7:80551995..80554963-chr7:80926459..80929330,3	MCF-7	breast:

Variant related genes	Relation type
SEMA3C	TF binding region
ENSG00000232968	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

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	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1028776	chr7:80414636-80555284	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80548400-80570000	Weak transcription	Gastric	stomach
2	chr7:80549200-80565000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:80549400-80553600	Weak transcription	Colonic Mucosa	Colon
4	chr7:80549400-80554400	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr7:80549600-80553600	Enhancers	Fetal Intestine Large	intestine
6	chr7:80549600-80553800	Enhancers	Fetal Intestine Small	intestine
7	chr7:80549600-80554000	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr7:80549800-80553800	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:80550200-80553800	Enhancers	Stomach Mucosa	stomach
10	chr7:80551000-80553400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr7:80551000-80556200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:80551200-80554400	Enhancers	A549	lung
13	chr7:80551400-80553800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:80551800-80553400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr7:80551800-80553600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr7:80551800-80554600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:80551800-80555000	Enhancers	Primary hematopoietic stem cells	blood
18	chr7:80552200-80554600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr7:80552400-80553400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:80552400-80553800	Enhancers	Fetal Kidney	kidney

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