Variant report

Variant	rs55935391
Chromosome Location	chr7:111722252-111722253
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111719751..111721639-chr7:111721753..111724570,2	K562	blood:
2	chr7:111721035..111722609-chr7:112204033..112205588,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs56237403	1.00[AMR][1000 genomes]
rs57297756	1.00[AMR][1000 genomes]
rs61662262	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715410	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715412	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715413	0.91[AFR][1000 genomes]
rs73715414	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715415	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715420	0.92[AFR][1000 genomes]
rs73715422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715431	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715472	1.00[AMR][1000 genomes]
rs73715473	1.00[AMR][1000 genomes]
rs73715474	1.00[AMR][1000 genomes]
rs73715492	1.00[AMR][1000 genomes]
rs73715502	1.00[AMR][1000 genomes]
rs73717512	1.00[AMR][1000 genomes]
rs73717948	1.00[AMR][1000 genomes]
rs73717949	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717950	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717953	1.00[AMR][1000 genomes]
rs73717954	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7784460	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	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
2	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
3	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
4	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
5	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
6	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
7	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv533924	chr7:111529515-111784369	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv1023261	chr7:111593889-111780337	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	nsv1016663	chr7:111622107-111813223	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv1034249	chr7:111656902-111748774	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv539089	chr7:111656902-111748774	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv889054	chr7:111666943-111739842	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv1844097	chr7:111686153-111723488	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111713000-111723800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr7:111713200-111724000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:111713200-111742400	Weak transcription	Right Ventricle	heart
4	chr7:111715200-111726600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:111717800-111723800	Weak transcription	Brain Angular Gyrus	brain
6	chr7:111719800-111722600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:111719800-111722600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:111719800-111727800	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:111720600-111722400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr7:111720600-111722600	Enhancers	Psoas Muscle	Psoas
11	chr7:111720600-111722800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:111720600-111722800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr7:111720600-111722800	Enhancers	Brain Anterior Caudate	brain
14	chr7:111720600-111753200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:111720800-111724400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:111721000-111724000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:111721000-111724000	Weak transcription	Aorta	Aorta
18	chr7:111721000-111724000	Weak transcription	HepG2	liver
19	chr7:111721000-111724600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:111721200-111722400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr7:111721200-111722600	Enhancers	Primary hematopoietic stem cells	blood
22	chr7:111721400-111722600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:111721400-111724000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:111721400-111724000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:111721400-111724200	Weak transcription	HMEC	breast
26	chr7:111721400-111728800	Weak transcription	Fetal Kidney	kidney
27	chr7:111721400-111737800	Weak transcription	NHEK	skin
28	chr7:111721400-111743600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:111721600-111722600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:111721600-111722600	Enhancers	Adipose Nuclei	Adipose
31	chr7:111721600-111722800	Enhancers	Primary B cells from cord blood	blood
32	chr7:111721600-111722800	Enhancers	HUVEC	blood vessel
33	chr7:111721600-111723000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr7:111721600-111723800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:111721600-111723800	Weak transcription	Brain Hippocampus Middle	brain
36	chr7:111721600-111724000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:111721600-111724000	Weak transcription	Fetal Lung	lung
38	chr7:111721600-111724200	Weak transcription	NH-A	brain
39	chr7:111721600-111732600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr7:111721600-111736800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:111721800-111723800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr7:111721800-111724000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:111721800-111724000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:111722000-111722400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr7:111722000-111723800	Weak transcription	Osteobl	bone
46	chr7:111722000-111724000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr7:111722000-111729800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr7:111722200-111722600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr7:111722200-111722800	Flanking Active TSS	A549	lung
50	chr7:111722200-111722800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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