Variant report

Variant	rs60080240
Chromosome Location	chr7:63981878-63981879
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10274363	1.00[AMR][1000 genomes]
rs55940481	1.00[AMR][1000 genomes]
rs56143486	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56157681	1.00[AMR][1000 genomes]
rs56162720	1.00[AMR][1000 genomes]
rs56287481	1.00[AMR][1000 genomes]
rs57330677	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57375223	1.00[AMR][1000 genomes]
rs57473659	1.00[AMR][1000 genomes]
rs59264435	1.00[AMR][1000 genomes]
rs59764702	1.00[AMR][1000 genomes]
rs60159065	1.00[AMR][1000 genomes]
rs60978341	1.00[AMR][1000 genomes]
rs61158282	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61695131	1.00[AMR][1000 genomes]
rs73354015	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73354016	1.00[AMR][1000 genomes]
rs73354041	1.00[AMR][1000 genomes]
rs73354062	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73354066	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73354070	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73354076	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73354078	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73354080	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73354101	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73355725	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73357504	1.00[AMR][1000 genomes]
rs73357505	1.00[AMR][1000 genomes]
rs73357549	1.00[AMR][1000 genomes]
rs73359824	1.00[AMR][1000 genomes]
rs73359834	1.00[AMR][1000 genomes]
rs73359871	1.00[AMR][1000 genomes]
rs73359872	1.00[AMR][1000 genomes]
rs73359881	1.00[AMR][1000 genomes]
rs73359885	1.00[AMR][1000 genomes]
rs73698655	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73698673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73698675	1.00[AMR][1000 genomes]
rs73701140	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888255	chr7:63175168-63990100	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv888259	chr7:63363001-64009193	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	nsv429759	chr7:63662150-64110550	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv429760	chr7:63687850-64110550	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv429761	chr7:63747498-64096138	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	esv2764000	chr7:63766980-64275251	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
9	nsv429762	chr7:63790450-64110550	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv2755057	chr7:63819849-64345822	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
11	nsv1031703	chr7:63839601-64225952	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
12	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
13	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
14	nsv1023042	chr7:63956027-64116232	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	nsv970855	chr7:63959414-64023731	ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv888271	chr7:63961212-64295884	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
17	nsv888272	chr7:63973216-64004876	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	esv1833009	chr7:63980233-64002859	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63964600-63997800	ZNF genes & repeats	Liver	Liver
2	chr7:63965000-63994800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:63966200-63997400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:63967600-63989600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr7:63968800-63988200	ZNF genes & repeats	Dnd41	blood
6	chr7:63969000-63983600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr7:63970400-63988200	Weak transcription	Hela-S3	cervix
8	chr7:63971600-63982200	Weak transcription	Placenta	Placenta
9	chr7:63974400-63983600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:63974400-64020000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:63975200-63983400	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr7:63976400-63988400	Weak transcription	Pancreas	Pancrea
13	chr7:63976800-63982200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr7:63977800-63982800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:63977800-63982800	ZNF genes & repeats	Fetal Lung	lung
16	chr7:63977800-63983400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
17	chr7:63978000-63989600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:63978200-64022200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:63978400-63982800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:63978400-63982800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:63978400-63983000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:63979000-63983000	ZNF genes & repeats	Primary B cells from cord blood	blood
23	chr7:63979000-63989800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
24	chr7:63979200-63983600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:63979400-63983600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:63979800-63983000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:63979800-63983800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
28	chr7:63979800-63987600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
29	chr7:63980000-63982200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:63980000-63987200	Weak transcription	Fetal Thymus	thymus
31	chr7:63980200-63982400	Weak transcription	Fetal Kidney	kidney
32	chr7:63980400-63986000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
33	chr7:63980800-63983200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
34	chr7:63980800-63983400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
35	chr7:63981000-63982200	Active TSS	Right Atrium	heart
36	chr7:63981000-63982400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
37	chr7:63981000-63982800	ZNF genes & repeats	A549	lung
38	chr7:63981000-63983000	ZNF genes & repeats	Fetal Heart	heart
39	chr7:63981000-63983200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
40	chr7:63981000-63983400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
41	chr7:63981000-63983400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:63981000-63983400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
43	chr7:63981000-63983400	ZNF genes & repeats	HSMM	muscle
44	chr7:63981000-63983800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
45	chr7:63981000-63983800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
46	chr7:63981000-63991000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
47	chr7:63981200-63982000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
48	chr7:63981200-63982000	ZNF genes & repeats	NH-A	brain
49	chr7:63981200-63982400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
50	chr7:63981200-63982600	ZNF genes & repeats	Brain Substantia Nigra	brain

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