Variant report

Variant	rs2972434
Chromosome Location	chr19:38197678-38197679
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10048511	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10402671	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10403173	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10404031	0.80[EUR][1000 genomes]
rs10408619	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10409605	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10410588	0.80[EUR][1000 genomes]
rs10412510	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10412786	0.80[EUR][1000 genomes]
rs10417576	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10420268	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10420552	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10420746	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10425795	0.80[EUR][1000 genomes]
rs11083432	0.93[EUR][1000 genomes]
rs11673023	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12459015	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1291	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12974225	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12979640	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13744	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1531549	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1564206	0.80[EUR][1000 genomes]
rs1564208	0.80[EUR][1000 genomes]
rs16958861	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16958863	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs171376	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1974714	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1975937	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1975939	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2075284	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2287229	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2291002	0.80[EUR][1000 genomes]
rs241932	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs241933	0.83[EUR][1000 genomes]
rs241950	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28512414	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2909085	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2909088	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2909093	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2909098	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2909100	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2909102	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2909105	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2909109	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2927739	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2927740	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2927742	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2927746	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2927747	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2972430	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2972437	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972438	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972439	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972445	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972446	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2972447	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2972448	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2972452	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2972458	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3095724	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3095726	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3101746	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3101747	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3112433	0.90[ASN][1000 genomes]
rs3112434	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35863684	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3829688	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4802024	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4802029	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4803215	0.80[EUR][1000 genomes]
rs4803231	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4803233	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4803262	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4803263	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4803276	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4803287	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56151076	0.94[ASN][1000 genomes]
rs56317671	0.85[EUR][1000 genomes]
rs62108337	0.83[EUR][1000 genomes]
rs6508736	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6508742	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8100646	0.82[ASN][1000 genomes]
rs8103633	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8103647	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8110865	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8112706	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs856300	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs856304	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9304568	0.82[EUR][1000 genomes]
rs9304569	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs954504	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs958305	0.95[EUR][1000 genomes]
rs968073	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9749368	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9797618	0.80[EUR][1000 genomes]
rs9941475	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38183200-38208800	Weak transcription	Fetal Heart	heart
2	chr19:38184200-38201200	Weak transcription	Colonic Mucosa	Colon
3	chr19:38184400-38208800	Weak transcription	HepG2	liver
4	chr19:38187000-38207800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:38187000-38208000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:38187400-38199000	ZNF genes & repeats	A549	lung
7	chr19:38187400-38205800	Strong transcription	Dnd41	blood
8	chr19:38187400-38208000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:38188000-38198200	Weak transcription	Pancreas	Pancrea
10	chr19:38188200-38197800	Weak transcription	Right Ventricle	heart
11	chr19:38188200-38209200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:38188400-38202000	Weak transcription	Placenta	Placenta
13	chr19:38189400-38209200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr19:38190000-38206600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr19:38190600-38198000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr19:38190600-38198400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:38190600-38198400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr19:38190600-38209000	Weak transcription	Brain Substantia Nigra	brain
19	chr19:38190600-38209200	Weak transcription	HSMMtube	muscle
20	chr19:38190800-38198200	Weak transcription	Brain Angular Gyrus	brain
21	chr19:38190800-38198200	Weak transcription	Osteobl	bone
22	chr19:38190800-38198600	Weak transcription	HSMM	muscle
23	chr19:38190800-38202200	Weak transcription	NH-A	brain
24	chr19:38190800-38209000	Weak transcription	Stomach Mucosa	stomach
25	chr19:38190800-38209200	Weak transcription	Fetal Thymus	thymus
26	chr19:38190800-38209200	Weak transcription	Psoas Muscle	Psoas
27	chr19:38191000-38197800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr19:38191000-38197800	Weak transcription	Fetal Brain Male	brain
29	chr19:38191000-38198000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr19:38191200-38198400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr19:38191200-38209200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr19:38191200-38209200	Weak transcription	Colon Smooth Muscle	Colon
33	chr19:38191600-38202000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr19:38192200-38203000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:38192600-38198200	Weak transcription	Aorta	Aorta
36	chr19:38192600-38198400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr19:38193800-38209000	Weak transcription	Hela-S3	cervix
38	chr19:38194000-38203000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr19:38194200-38197800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
40	chr19:38194200-38202800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr19:38194600-38198400	Weak transcription	NHEK	skin
42	chr19:38194600-38198800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:38194600-38206600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr19:38194800-38200400	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr19:38195000-38197800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr19:38195200-38204400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr19:38195400-38199000	Strong transcription	Adipose Nuclei	Adipose
48	chr19:38195400-38199200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
49	chr19:38195600-38198400	Strong transcription	Ovary	ovary
50	chr19:38195600-38198600	Weak transcription	NHDF-Ad	bronchial

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