Variant report

Variant	rs549636247
Chromosome Location	chr7:112093260-112093261
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:112093193-112094096	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:112088943..112098465-chr7:112111106..112127214,31	K562	blood:
2	chr7:112089471..112094125-chr7:112120459..112123941,5	MCF-7	breast:
3	chr7:112088811..112094041-chr7:112100770..112110657,18	MCF-7	breast:
4	chr7:112047884..112050486-chr7:112089235..112093334,4	MCF-7	breast:
5	chr7:112089375..112094700-chr7:112096975..112100569,9	MCF-7	breast:
6	chr7:112059129..112067568-chr7:112088387..112093703,18	K562	blood:
7	chr7:111806034..111807822-chr7:112092535..112095230,2	K562	blood:
8	chr7:112058803..112077296-chr7:112087519..112096464,50	MCF-7	breast:

No data

Variant related genes	Relation type
IFRD1	TF binding region
ENSG00000006652	Chromatin interaction
ENSG00000226851	Chromatin interaction
ENSG00000181016	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	esv1801262	chr7:112071795-112104179	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1030033	chr7:112092709-112140430	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112089600-112093400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:112089600-112094000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr7:112089600-112094200	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:112089600-112094200	Active TSS	Psoas Muscle	Psoas
5	chr7:112089800-112093400	Active TSS	A549	lung
6	chr7:112089800-112093600	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr7:112089800-112093600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr7:112089800-112094400	Active TSS	Right Ventricle	heart
9	chr7:112089800-112094800	Active TSS	GM12878-XiMat	blood
10	chr7:112090000-112094600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:112090200-112093400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:112090200-112093400	Active TSS	HMEC	breast
13	chr7:112090200-112093400	Active TSS	HSMMtube	muscle
14	chr7:112090200-112094200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:112091400-112094000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr7:112091400-112094600	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr7:112091600-112093600	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr7:112091600-112094400	Active TSS	Right Atrium	heart
19	chr7:112091800-112093600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr7:112091800-112094000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:112091800-112094200	Flanking Active TSS	Dnd41	blood
22	chr7:112091800-112094600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:112092000-112094400	Enhancers	Fetal Heart	heart
24	chr7:112092000-112094600	Enhancers	Small Intestine	intestine
25	chr7:112092200-112093800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:112092200-112093800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr7:112092200-112094000	Flanking Active TSS	HUVEC	blood vessel
28	chr7:112092200-112094200	Flanking Active TSS	Osteobl	bone
29	chr7:112092400-112093400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:112092400-112093400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:112092400-112093400	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr7:112092400-112093400	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr7:112092400-112094200	Flanking Active TSS	NH-A	brain
34	chr7:112092400-112094400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr7:112092400-112094600	Enhancers	Fetal Brain Male	brain
36	chr7:112092600-112093600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr7:112092600-112093600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:112092600-112093600	Active TSS	K562	blood
39	chr7:112092600-112093800	Flanking Active TSS	NHDF-Ad	bronchial
40	chr7:112092600-112094000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr7:112092600-112094000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:112092600-112094200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:112092600-112094200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:112092600-112094200	Enhancers	Fetal Lung	lung
45	chr7:112092600-112094400	Weak transcription	Lung	lung
46	chr7:112092600-112094600	Enhancers	Brain Angular Gyrus	brain
47	chr7:112092600-112094600	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr7:112092600-112095400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr7:112092600-112095800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr7:112092600-112095800	Weak transcription	Primary B cells from peripheral blood	blood

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