Variant report

Variant	rs60043543
Chromosome Location	chr19:36845508-36845509
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16971042	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16971046	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17464619	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2385798	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2891870	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56854596	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59953432	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7254161	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73602361	0.84[AFR][1000 genomes]
rs73602365	0.84[AFR][1000 genomes]
rs73602375	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73606471	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73606491	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73608310	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73608312	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73608349	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73608364	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73608381	0.81[AFR][1000 genomes]
rs73614529	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063208	chr19:36743461-36847486	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1056901	chr19:36749658-36847486	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1061054	chr19:36751703-36847486	Strong transcription Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1055260	chr19:36752221-36847486	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1056850	chr19:36752663-36847486	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1064983	chr19:36752663-36847625	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1057579	chr19:36752663-36847822	Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv1825146	chr19:36800927-36846993	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv1837043	chr19:36800927-36846993	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv2474	chr19:36804469-36865415	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv2763143	chr19:36805705-36847498	Strong transcription Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1059568	chr19:36806475-36847864	Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv1823621	chr19:36807288-36845863	Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv1064343	chr19:36807288-36853102	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
16	esv1802217	chr19:36830299-36847625	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
17	nsv1066190	chr19:36830299-36852877	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv579427	chr19:36830905-36846642	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
19	nsv579428	chr19:36830905-36846993	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
20	nsv174	chr19:36831719-36865415	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	esv3495115	chr19:36839462-36848160	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
22	esv3495119	chr19:36839937-36848085	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
23	esv3495113	chr19:36839942-36847510	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
24	nsv821399	chr19:36840202-36847371	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
25	nsv9716	chr19:36840250-36851177	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	esv11683	chr19:36840266-36847025	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
27	nsv436255	chr19:36840422-36848264	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
28	esv3318089	chr19:36840616-36847194	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
29	esv3495117	chr19:36840654-36847281	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
30	esv3495116	chr19:36840657-36847225	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
31	esv3318088	chr19:36840674-36847160	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
32	esv3495114	chr19:36840681-36847259	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
33	esv3318091	chr19:36840682-36847202	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
34	esv3495112	chr19:36840699-36847157	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
35	esv3318090	chr19:36840738-36847077	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
36	esv3495120	chr19:36840748-36847077	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
37	nsv498900	chr19:36840751-36847074	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
38	esv3318092	chr19:36840752-36847075	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
39	esv3495121	chr19:36840752-36847075	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
40	esv1010898	chr19:36841090-36847025	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
41	nsv514898	chr19:36841132-36846896	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
42	nsv579431	chr19:36843126-36846993	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
43	esv2421498	chr19:36843126-36847498	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
44	esv3394871	chr19:36843612-36848010	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
45	esv10192	chr19:36844089-36845592	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
46	esv1793701	chr19:36844092-36846993	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
47	esv1802634	chr19:36844092-36846993	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
48	esv1827666	chr19:36844092-36846993	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
49	esv1828421	chr19:36844092-36846993	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
50	esv1828634	chr19:36844092-36846993	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36823800-36853600	ZNF genes & repeats	Liver	Liver
2	chr19:36827200-36862200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:36830600-36869400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:36832200-36849600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:36832200-36868600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:36832400-36847000	Weak transcription	Brain Anterior Caudate	brain
7	chr19:36832400-36851400	Weak transcription	Fetal Brain Male	brain
8	chr19:36832600-36849600	Weak transcription	Fetal Heart	heart
9	chr19:36832800-36849000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr19:36834000-36857400	Weak transcription	Brain Substantia Nigra	brain
11	chr19:36834200-36868800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr19:36834400-36849600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:36835800-36847400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:36835800-36857200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:36835800-36868800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr19:36836400-36847400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:36836400-36858400	Weak transcription	Osteobl	bone
18	chr19:36836400-36868000	Weak transcription	Psoas Muscle	Psoas
19	chr19:36836600-36845600	Weak transcription	Brain Germinal Matrix	brain
20	chr19:36836600-36849800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr19:36836600-36849800	Weak transcription	Colonic Mucosa	Colon
22	chr19:36836600-36857200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:36836600-36863400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr19:36836800-36849800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr19:36837000-36852600	Strong transcription	Fetal Stomach	stomach
26	chr19:36838000-36847200	Weak transcription	Brain Angular Gyrus	brain
27	chr19:36838000-36849600	Weak transcription	Small Intestine	intestine
28	chr19:36838000-36851200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr19:36838000-36851200	Weak transcription	HepG2	liver
30	chr19:36838000-36868600	Weak transcription	Stomach Mucosa	stomach
31	chr19:36838200-36847400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr19:36838200-36849400	Weak transcription	Colon Smooth Muscle	Colon
33	chr19:36838200-36855000	Weak transcription	HSMM	muscle
34	chr19:36838400-36847400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr19:36838600-36850400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr19:36839200-36847200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr19:36839200-36848000	Strong transcription	Stomach Smooth Muscle	stomach
38	chr19:36839400-36847400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr19:36839400-36849600	Weak transcription	Gastric	stomach
40	chr19:36839400-36851200	Weak transcription	HSMMtube	muscle
41	chr19:36839600-36845600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr19:36839600-36846600	Weak transcription	Primary B cells from cord blood	blood
43	chr19:36839600-36849600	Weak transcription	Pancreas	Pancrea
44	chr19:36839800-36847200	Weak transcription	Primary T cells from cord blood	blood
45	chr19:36839800-36847200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr19:36839800-36847200	Weak transcription	Left Ventricle	heart
47	chr19:36839800-36847400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr19:36839800-36847400	Weak transcription	Dnd41	blood
49	chr19:36839800-36848000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr19:36839800-36848400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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