Variant report

Variant	rs11671846
Chromosome Location	chr19:42940303-42940304
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42745935..42748870-chr19:42939924..42942015,2	K562	blood:

Variant related genes	Relation type
ENSG00000105723	Chromatin interaction
ENSG00000204957	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10402361	0.84[ASN][1000 genomes]
rs10402401	0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs10402677	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10403517	0.85[EUR][1000 genomes]
rs10403979	0.84[ASN][1000 genomes]
rs10404402	0.82[ASN][1000 genomes]
rs10404509	0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10405445	0.85[EUR][1000 genomes]
rs10405646	0.84[ASN][1000 genomes]
rs10405906	1.00[GIH][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs10407178	0.84[ASN][1000 genomes]
rs10407576	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10410147	0.84[ASN][1000 genomes]
rs10411165	0.84[ASN][1000 genomes]
rs10411458	0.88[ASN][1000 genomes]
rs10412463	0.92[ASN][1000 genomes]
rs10413413	0.85[EUR][1000 genomes]
rs10414602	0.84[ASN][1000 genomes]
rs10415564	0.84[ASN][1000 genomes]
rs10416089	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10417418	0.81[ASN][1000 genomes]
rs10417693	0.81[ASN][1000 genomes]
rs10419378	0.88[ASN][1000 genomes]
rs10420164	0.84[ASN][1000 genomes]
rs10420796	0.84[ASN][1000 genomes]
rs10421108	0.84[ASN][1000 genomes]
rs10421620	0.84[ASN][1000 genomes]
rs10421881	0.84[ASN][1000 genomes]
rs10422283	0.82[CHB][hapmap]
rs10422573	0.88[ASN][1000 genomes]
rs10422987	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10423291	0.88[ASN][1000 genomes]
rs10469271	0.84[ASN][1000 genomes]
rs10469284	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10469285	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.93[MEX][hapmap];0.95[MKK][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10469286	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1076243	0.88[ASN][1000 genomes]
rs11083659	0.84[ASN][1000 genomes]
rs11665767	0.84[ASN][1000 genomes]
rs11665870	0.87[CEU][hapmap];1.00[GIH][hapmap];0.93[EUR][1000 genomes]
rs11665935	0.90[EUR][1000 genomes]
rs11666350	0.86[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11666425	0.84[ASN][1000 genomes]
rs11666835	0.90[ASN][1000 genomes]
rs11666862	0.88[ASN][1000 genomes]
rs11668009	0.84[ASN][1000 genomes]
rs11668460	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11668599	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11670316	0.84[ASN][1000 genomes]
rs11671272	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11673645	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11673684	0.84[ASN][1000 genomes]
rs11879306	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11881517	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11882150	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12165114	0.82[CHB][hapmap]
rs12327586	0.84[ASN][1000 genomes]
rs12611218	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs13346414	0.84[ASN][1000 genomes]
rs16975789	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975865	0.85[EUR][1000 genomes]
rs16975890	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1859341	0.84[ASN][1000 genomes]
rs2267631	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs28411988	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28447294	0.84[ASN][1000 genomes]
rs4080606	0.93[EUR][1000 genomes]
rs55641435	0.88[ASN][1000 genomes]
rs55850134	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56237547	0.84[ASN][1000 genomes]
rs57902582	0.88[ASN][1000 genomes]
rs60313903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60662795	0.86[ASN][1000 genomes]
rs6509016	0.88[ASN][1000 genomes]
rs6509017	0.88[ASN][1000 genomes]
rs6509020	0.84[ASN][1000 genomes]
rs7247618	0.84[ASN][1000 genomes]
rs7248297	0.84[ASN][1000 genomes]
rs7253056	0.85[EUR][1000 genomes]
rs7253209	0.84[ASN][1000 genomes]
rs8102439	1.00[GIH][hapmap];0.81[TSI][hapmap]
rs8102519	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs8103285	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs8103891	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8106083	0.84[ASN][1000 genomes]
rs8106570	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8107152	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs8107254	0.87[CEU][hapmap];0.93[EUR][1000 genomes]
rs8107790	0.93[EUR][1000 genomes]
rs8110766	0.84[ASN][1000 genomes]
rs8110917	0.84[ASN][1000 genomes]
rs8112156	0.85[EUR][1000 genomes]
rs851298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs851301	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs851302	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9304604	0.89[CHD][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv3318933	chr19:42940196-42940360	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3318934	chr19:42940210-42940356	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42928800-42944800	Weak transcription	Esophagus	oesophagus
2	chr19:42929600-42945200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr19:42936200-42940600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr19:42936600-42943200	Enhancers	HepG2	liver
5	chr19:42937800-42945000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr19:42938000-42941600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr19:42938000-42942600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr19:42938000-42942800	Weak transcription	Liver	Liver
9	chr19:42938000-42942800	Weak transcription	K562	blood
10	chr19:42938000-42944400	Weak transcription	Brain Substantia Nigra	brain
11	chr19:42938000-42944600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr19:42938000-42944600	Weak transcription	Fetal Intestine Small	intestine
13	chr19:42938000-42944800	Weak transcription	Brain Hippocampus Middle	brain
14	chr19:42938000-42944800	Weak transcription	Fetal Intestine Large	intestine
15	chr19:42938000-42944800	Weak transcription	Fetal Lung	lung
16	chr19:42938000-42944800	Weak transcription	Pancreas	Pancrea
17	chr19:42938000-42944800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr19:42938000-42945200	Weak transcription	Fetal Stomach	stomach
19	chr19:42938000-42946200	Enhancers	Adipose Nuclei	Adipose
20	chr19:42938000-42946800	Weak transcription	Right Ventricle	heart
21	chr19:42938000-42950200	Weak transcription	Gastric	stomach
22	chr19:42938000-42954200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr19:42938200-42942800	Weak transcription	Stomach Mucosa	stomach
24	chr19:42938200-42944600	Weak transcription	Fetal Muscle Leg	muscle
25	chr19:42938400-42942600	Weak transcription	Brain Anterior Caudate	brain
26	chr19:42938800-42941800	Weak transcription	Lung	lung
27	chr19:42939400-42940600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:42939400-42941000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr19:42939400-42941000	Enhancers	NHDF-Ad	bronchial
30	chr19:42939400-42942200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr19:42939600-42940400	Enhancers	Right Atrium	heart
32	chr19:42939600-42940600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr19:42939800-42944800	Weak transcription	Left Ventricle	heart
34	chr19:42940000-42940400	Enhancers	A549	lung
35	chr19:42940200-42940400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr19:42940200-42940400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr19:42940200-42940600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:42940200-42940800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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