Variant report

Variant	rs1076243
Chromosome Location	chr19:43059599-43059600
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10084159	0.82[AMR][1000 genomes]
rs10401271	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10402361	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10402401	0.87[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10402677	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10403517	0.88[CEU][hapmap];0.90[YRI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10403979	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10404402	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10404509	0.87[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10405445	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10405646	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10405906	0.88[CEU][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10407178	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10407576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10410147	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10411165	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10411458	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10412463	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10413014	0.87[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10413413	0.88[CEU][hapmap];0.90[YRI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10414602	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10415564	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10416089	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10417418	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10417693	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10419378	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10420164	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10420796	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10421108	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10421620	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10421881	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10422283	0.85[CHB][hapmap]
rs10422573	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10422987	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10423291	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10469271	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10469285	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10469286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11083659	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11665767	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11665870	0.93[YRI][hapmap];0.81[AMR][1000 genomes]
rs11665935	0.81[AMR][1000 genomes]
rs11666425	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11666835	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11666862	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11668009	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11668460	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11669892	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11670316	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11671846	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11673645	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11673684	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11879306	0.91[ASN][1000 genomes]
rs11881517	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11882150	0.91[ASN][1000 genomes]
rs11882882	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12327586	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13343936	0.82[AMR][1000 genomes]
rs13346414	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16975865	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16975890	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1859341	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2267631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28411988	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28447294	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2883270	0.91[ASN][1000 genomes]
rs4499340	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55641435	1.00[ASN][1000 genomes]
rs55850134	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56237547	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56978333	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57902582	0.92[ASN][1000 genomes]
rs59525393	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60313903	0.91[ASN][1000 genomes]
rs60662795	0.98[ASN][1000 genomes]
rs6509016	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6509017	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6509020	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7247618	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7248042	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7248297	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7249411	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7253056	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7253209	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73562329	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8102439	0.88[CEU][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes]
rs8102519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8103285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8103891	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8106083	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8106570	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8107152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8107254	0.90[YRI][hapmap];0.81[AMR][1000 genomes]
rs8107790	0.81[AMR][1000 genomes]
rs8108816	0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8108844	0.87[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs8110766	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8110917	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8112156	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs851298	0.91[ASN][1000 genomes]
rs851301	0.91[ASN][1000 genomes]
rs851302	0.91[ASN][1000 genomes]
rs9304604	1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	esv2422468	chr19:42991289-43669027	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1057390	chr19:43003323-43173028	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv482597	chr19:43037214-43222644	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2758501	chr19:43042747-43899053	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	esv2758763	chr19:43042747-43899053	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv428023	chr19:43042747-43899053	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	esv2422227	chr19:43059426-43669485	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43050600-43067800	Weak transcription	Right Atrium	heart
2	chr19:43056200-43060200	Enhancers	Spleen	Spleen
3	chr19:43056400-43059600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:43056600-43060800	Enhancers	Primary hematopoietic stem cells	blood
5	chr19:43056800-43060200	Enhancers	Adipose Nuclei	Adipose
6	chr19:43056800-43060200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr19:43057000-43060200	Enhancers	Fetal Muscle Leg	muscle
8	chr19:43057200-43060600	Enhancers	Primary B cells from peripheral blood	blood
9	chr19:43057400-43060400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr19:43057600-43059600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr19:43057600-43062800	Weak transcription	Ovary	ovary
12	chr19:43057800-43059600	Enhancers	Right Ventricle	heart
13	chr19:43057800-43060200	Enhancers	Fetal Muscle Trunk	muscle
14	chr19:43058000-43059600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:43058000-43059600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
16	chr19:43058200-43060000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr19:43058600-43059800	Bivalent Enhancer	Primary B cells from cord blood	blood
18	chr19:43058800-43059600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
19	chr19:43058800-43059600	Enhancers	Brain Substantia Nigra	brain
20	chr19:43058800-43061200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
21	chr19:43059000-43060400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr19:43059000-43060400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:43059000-43060600	Enhancers	Placenta	Placenta
24	chr19:43059200-43059600	Enhancers	Brain Cingulate Gyrus	brain
25	chr19:43059200-43059600	Enhancers	Fetal Thymus	thymus
26	chr19:43059200-43059600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
27	chr19:43059200-43060200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr19:43059200-43060200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr19:43059200-43060200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr19:43059200-43060400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:43059200-43060600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr19:43059400-43059600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:43059400-43059600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr19:43059400-43059600	Enhancers	Colonic Mucosa	Colon
35	chr19:43059400-43059800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr19:43059400-43059800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
37	chr19:43059400-43059800	Enhancers	Esophagus	oesophagus
38	chr19:43059400-43060000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr19:43059400-43060200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr19:43059400-43060200	Enhancers	H9 Cell Line	embryonic stem cell
41	chr19:43059400-43060200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr19:43059400-43060200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr19:43059400-43060200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr19:43059400-43060400	Enhancers	Fetal Stomach	stomach
45	chr19:43059400-43060400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
46	chr19:43059400-43061000	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr19:43059400-43063200	Enhancers	HepG2	liver

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