Variant report

Variant	rs12673769
Chromosome Location	chr7:111389126-111389127
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111381965..111384735-chr7:111387573..111389766,2	K562	blood:
2	chr7:111388076..111390645-chr7:111397624..111399991,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10953696	0.86[ASN][1000 genomes]
rs11979621	0.85[ASN][1000 genomes]
rs12705798	0.89[ASN][1000 genomes]
rs1859025	0.86[ASN][1000 genomes]
rs2074115	0.81[ASN][1000 genomes]
rs2074117	0.91[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs3735534	0.89[ASN][1000 genomes]
rs3735535	0.95[ASN][1000 genomes]
rs3757647	0.80[ASN][1000 genomes]
rs3757649	0.86[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs3801782	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3801784	0.84[ASN][1000 genomes]
rs3801786	0.87[ASN][1000 genomes]
rs3801787	0.87[ASN][1000 genomes]
rs3801788	0.91[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs6466387	0.90[ASN][1000 genomes]
rs6951280	0.85[ASN][1000 genomes]
rs6968514	0.84[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2764041	chr7:110918713-111395390	Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv608196	chr7:111073710-111794368	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv932103	chr7:111092431-111412049	Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv869375	chr7:111105151-111470811	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv608215	chr7:111183610-111533520	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1028740	chr7:111227747-111679401	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1015267	chr7:111303294-111714771	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv539087	chr7:111303294-111714771	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv539088	chr7:111333899-111722341	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1034375	chr7:111337109-111459099	Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111363000-111418000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:111366800-111394200	Weak transcription	Gastric	stomach
3	chr7:111367400-111401600	Weak transcription	Colonic Mucosa	Colon
4	chr7:111373600-111390200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:111373600-111414000	Weak transcription	Right Ventricle	heart
6	chr7:111373800-111390000	Weak transcription	Psoas Muscle	Psoas
7	chr7:111375800-111394200	Weak transcription	Fetal Heart	heart
8	chr7:111376000-111399600	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:111376600-111397000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:111376600-111398200	Weak transcription	A549	lung
11	chr7:111376800-111389200	Weak transcription	HSMMtube	muscle
12	chr7:111377000-111390000	Weak transcription	Hela-S3	cervix
13	chr7:111377000-111396800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:111377000-111396800	Weak transcription	HMEC	breast
15	chr7:111378600-111390200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:111378800-111389400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr7:111379400-111393200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:111379600-111389800	Weak transcription	Fetal Brain Female	brain
19	chr7:111379600-111398000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:111379600-111433600	Weak transcription	Esophagus	oesophagus
21	chr7:111379800-111398600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:111380000-111396600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:111382000-111389800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:111382200-111391000	Weak transcription	K562	blood
25	chr7:111383800-111396600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr7:111383800-111396600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:111383800-111396600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr7:111383800-111396600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:111383800-111396800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr7:111383800-111396800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr7:111383800-111400200	Weak transcription	Aorta	Aorta
32	chr7:111384000-111396800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:111384400-111393800	Weak transcription	Brain Germinal Matrix	brain
34	chr7:111384400-111409000	Weak transcription	Fetal Stomach	stomach
35	chr7:111384600-111394600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:111384600-111396400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:111384600-111396400	Weak transcription	Lung	lung
38	chr7:111384600-111396800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:111384600-111396800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr7:111384800-111393800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr7:111385000-111396400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:111385200-111394600	Weak transcription	Left Ventricle	heart
43	chr7:111385200-111396400	Weak transcription	NHLF	lung
44	chr7:111385200-111396600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:111385200-111396600	Weak transcription	Osteobl	bone
46	chr7:111385200-111397000	Weak transcription	NH-A	brain
47	chr7:111385200-111399400	Weak transcription	NHEK	skin
48	chr7:111385400-111393800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:111385400-111396800	Weak transcription	NHDF-Ad	bronchial
50	chr7:111385400-111398000	Weak transcription	Stomach Smooth Muscle	stomach

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