Variant report

Variant	rs9656193
Chromosome Location	chr7:112093041-112093042
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr7:112090507-112093089	H1-hESC	embryonic stem cell:	n/a	chr7:112091005-112091015
2	NR2F2	chr7:112089740-112093055	K562	blood:	n/a	chr7:112092790-112092805
3	POLR2A	chr7:112092697-112093115	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr7:112090070-112093219	K562	blood:	n/a	n/a
5	POLR2A	chr7:112090230-112093056	A549	lung:	n/a	n/a
6	POLR2A	chr7:112089774-112093074	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:9 , 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:
9	chr7:112060645..112065287-chr7:112088150..112093147,11	K562	blood:

No data

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

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28595023	0.87[AFR][1000 genomes]
rs3095058	1.00[AFR][1000 genomes]
rs3109113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	chr7:112089800-112093200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:112089800-112093400	Active TSS	A549	lung
7	chr7:112089800-112093600	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr7:112089800-112093600	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr7:112089800-112094400	Active TSS	Right Ventricle	heart
10	chr7:112089800-112094800	Active TSS	GM12878-XiMat	blood
11	chr7:112090000-112094600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:112090200-112093400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:112090200-112093400	Active TSS	HMEC	breast
14	chr7:112090200-112093400	Active TSS	HSMMtube	muscle
15	chr7:112090200-112094200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:112091400-112094000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr7:112091400-112094600	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr7:112091600-112093200	Active TSS	HepG2	liver
19	chr7:112091600-112093600	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr7:112091600-112094400	Active TSS	Right Atrium	heart
21	chr7:112091800-112093200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr7:112091800-112093600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr7:112091800-112094000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:112091800-112094200	Flanking Active TSS	Dnd41	blood
25	chr7:112091800-112094600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:112092000-112093200	Enhancers	Stomach Mucosa	stomach
27	chr7:112092000-112094400	Enhancers	Fetal Heart	heart
28	chr7:112092000-112094600	Enhancers	Small Intestine	intestine
29	chr7:112092200-112093200	Flanking Active TSS	Liver	Liver
30	chr7:112092200-112093200	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr7:112092200-112093200	Flanking Active TSS	Fetal Brain Female	brain
32	chr7:112092200-112093800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:112092200-112093800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr7:112092200-112094000	Flanking Active TSS	HUVEC	blood vessel
35	chr7:112092200-112094200	Flanking Active TSS	Osteobl	bone
36	chr7:112092400-112093200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr7:112092400-112093400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:112092400-112093400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:112092400-112093400	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr7:112092400-112093400	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr7:112092400-112094200	Flanking Active TSS	NH-A	brain
42	chr7:112092400-112094400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr7:112092400-112094600	Enhancers	Fetal Brain Male	brain
44	chr7:112092600-112093200	Enhancers	Primary T cells from cord blood	blood
45	chr7:112092600-112093600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr7:112092600-112093600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:112092600-112093600	Active TSS	K562	blood
48	chr7:112092600-112093800	Flanking Active TSS	NHDF-Ad	bronchial
49	chr7:112092600-112094000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr7:112092600-112094000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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