Variant report

Variant	rs12980702
Chromosome Location	chr19:21108252-21108253
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10500214	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11085429	1.00[YRI][hapmap]
rs12052091	1.00[YRI][hapmap]
rs12151124	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12972502	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12973946	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12974516	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12976498	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12977377	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12978422	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12979034	0.83[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12982799	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12984683	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12985632	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12985960	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs34083865	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34094278	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34147545	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34319995	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34333465	0.83[EUR][1000 genomes]
rs34353115	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34364519	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34408954	0.81[EUR][1000 genomes]
rs34428650	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34570925	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34589343	0.81[EUR][1000 genomes]
rs34624594	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34655445	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34810042	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35087386	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35142954	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35187472	0.81[EUR][1000 genomes]
rs35301331	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35355399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35356210	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35629911	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35646729	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35713135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35713726	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35739003	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35748394	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35775609	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35807371	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35816744	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35891780	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35908447	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35992021	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36066016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36116339	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3853666	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3853667	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4583391	0.81[EUR][1000 genomes]
rs66746089	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs66886362	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66889224	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67084493	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67143565	0.81[EUR][1000 genomes]
rs67242454	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67493653	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68066643	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs68101689	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs68140009	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7254676	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73005097	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73007025	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73007030	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73007042	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs74182996	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74182998	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74182999	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74183002	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8100072	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8113635	0.88[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752729	chr19:20818886-21169554	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS 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 target site	32 gene(s)	inside rSNPs	diseases
4	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1063954	chr19:21000562-21177577	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv578946	chr19:21014403-21151796	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers 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 target site	32 gene(s)	inside rSNPs	diseases
8	nsv960809	chr19:21031718-21121801	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1055738	chr19:21040181-21109969	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv522090	chr19:21041350-21109784	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv578947	chr19:21041350-21109784	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
13	nsv1062802	chr19:21053665-21109969	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1067455	chr19:21053665-21141787	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
15	nsv1058430	chr19:21063759-21114796	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21106600-21117800	Weak transcription	Small Intestine	intestine
2	chr19:21106600-21119200	Weak transcription	Spleen	Spleen
3	chr19:21106600-21129800	Weak transcription	Stomach Mucosa	stomach
4	chr19:21106800-21119200	Weak transcription	Aorta	Aorta
5	chr19:21106800-21125600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr19:21106800-21128200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr19:21106800-21131000	Weak transcription	Gastric	stomach
8	chr19:21107000-21109200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr19:21107000-21111000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr19:21107000-21111000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:21107000-21113000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:21107000-21115600	Weak transcription	Pancreas	Pancrea
13	chr19:21107000-21116600	Weak transcription	Fetal Intestine Large	intestine
14	chr19:21107000-21117800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:21107000-21117800	Weak transcription	Placenta	Placenta
16	chr19:21107000-21118000	Weak transcription	Left Ventricle	heart
17	chr19:21107000-21119200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr19:21107000-21120400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr19:21107000-21123000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr19:21107000-21124000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:21107000-21125800	Weak transcription	Psoas Muscle	Psoas
22	chr19:21107000-21128000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr19:21107000-21133200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr19:21107200-21109600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr19:21107200-21111000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr19:21107200-21111000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr19:21107200-21112000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:21107200-21113800	Weak transcription	Primary T cells from cord blood	blood
29	chr19:21107200-21117800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr19:21107200-21119000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr19:21107200-21119200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr19:21107200-21123000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr19:21107200-21124000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr19:21107200-21125400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr19:21107200-21127200	Weak transcription	Brain Angular Gyrus	brain
36	chr19:21107200-21127400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr19:21107200-21132600	Weak transcription	Brain Hippocampus Middle	brain
38	chr19:21107200-21133800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:21107400-21108400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr19:21107400-21109600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:21107400-21110600	Weak transcription	NH-A	brain
42	chr19:21107400-21110800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:21107400-21111000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr19:21107400-21111000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr19:21107400-21111000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr19:21107400-21111000	Weak transcription	Fetal Muscle Leg	muscle
47	chr19:21107400-21111000	Weak transcription	Fetal Stomach	stomach
48	chr19:21107400-21111200	Weak transcription	Ovary	ovary
49	chr19:21107400-21111400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr19:21107400-21114000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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