Variant report

Variant	rs11770794
Chromosome Location	chr7:100395520-100395521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100394008..100396401-chr7:100479088..100481838,2	MCF-7	breast:
2	chr7:100393512..100397050-chr7:100397578..100401575,4	MCF-7	breast:
3	chr7:100394911..100396702-chr7:100397930..100402175,4	K562	blood:
4	chr7:100370756..100373277-chr7:100392976..100395717,2	K562	blood:
5	chr7:100394642..100397272-chr7:100423099..100424771,2	K562	blood:
6	chr7:100395173..100397781-chr7:100398399..100402175,4	K562	blood:
7	chr7:100394796..100404152-chr7:100420595..100427156,30	MCF-7	breast:
8	chr7:100387982..100391300-chr7:100393778..100396356,3	K562	blood:
9	chr7:100388723..100391300-chr7:100394856..100396902,2	K562	blood:
10	chr7:100395512..100400590-chr7:100483994..100490629,8	K562	blood:
11	chr7:100301814..100305937-chr7:100395370..100399067,4	K562	blood:
12	chr7:100395163..100402625-chr7:100430790..100439308,9	K562	blood:
13	chr7:100389206..100395703-chr7:100421517..100425338,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000176125	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000087087	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12539083	1.00[YRI][hapmap]
rs13236828	1.00[YRI][hapmap]
rs1799805	1.00[YRI][hapmap]
rs2272573	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv888796	chr7:100313420-100423365	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
8	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
9	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
10	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
11	nsv888797	chr7:100386900-100482026	Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100382600-100400800	Weak transcription	Right Atrium	heart
2	chr7:100391800-100397200	Weak transcription	Pancreas	Pancrea
3	chr7:100392000-100398600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:100392200-100396600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:100392200-100397000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:100392200-100397000	Weak transcription	K562	blood
7	chr7:100392200-100398800	Weak transcription	Gastric	stomach
8	chr7:100392200-100399600	Weak transcription	NH-A	brain
9	chr7:100392400-100396600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:100392400-100397000	Weak transcription	A549	lung
11	chr7:100392400-100397200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:100392400-100399400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:100392400-100400000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:100392600-100397000	Weak transcription	Hela-S3	cervix
15	chr7:100392600-100397200	Weak transcription	NHEK	skin
16	chr7:100392600-100399800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:100392800-100396200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:100392800-100397200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:100392800-100397200	Weak transcription	HMEC	breast
20	chr7:100392800-100400600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:100393000-100396600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:100393000-100396600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:100393000-100396800	Weak transcription	HUVEC	blood vessel
24	chr7:100393000-100397200	Weak transcription	NHLF	lung
25	chr7:100393000-100399600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:100393000-100399800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:100393000-100400600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr7:100393000-100400800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:100394000-100397000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:100394400-100397400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:100394800-100399800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr7:100395000-100396200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr7:100395200-100397200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:100395400-100397200	Weak transcription	Right Ventricle	heart

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