Variant report

Variant	rs506547
Chromosome Location	chr19:56629389-56629390
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:56603070..56605963-chr19:56628065..56630329,2	K562	blood:
2	chr19:56627257..56634581-chr19:56650310..56656612,28	MCF-7	breast:
3	chr19:56629015..56635457-chr19:56649954..56657591,25	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167685	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs11673628	0.84[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs12459102	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12981138	0.85[ASN][1000 genomes]
rs12983086	0.89[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2450439	0.96[ASN][1000 genomes]
rs2631625	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2631627	0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2631628	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2631631	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2631637	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2631640	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2637088	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2637092	0.94[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2637094	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2637097	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2637114	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2932757	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs473953	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs478402	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4801676	0.84[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs481936	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs490345	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs492078	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs497453	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs501798	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs504350	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs509897	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs517021	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs517582	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs521092	0.82[ASN][1000 genomes]
rs522980	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs524778	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs524829	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs524988	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs525827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs527715	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs530102	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs533640	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs533734	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs535393	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs536342	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs536414	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs537425	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs540900	1.00[ASW][hapmap];1.00[CEU][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap]
rs544365	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs545570	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs547002	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs547945	1.00[CEU][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs564050	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs564973	0.90[ASN][1000 genomes]
rs565879	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs569310	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs572851	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs578990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs578991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs582271	0.83[ASN][1000 genomes]
rs583330	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs587702	0.86[ASN][1000 genomes]
rs588574	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs592827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs599405	1.00[CEU][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs609736	1.00[ASW][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];0.81[ASN][1000 genomes]
rs609755	0.81[ASN][1000 genomes]
rs619934	1.00[ASW][hapmap];0.83[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs626821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628090	0.86[ASN][1000 genomes]
rs629544	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs630704	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs640654	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs642776	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs643133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs643174	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs648352	0.86[AMR][1000 genomes]
rs659424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs662308	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs662763	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs665082	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs665846	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs665857	0.94[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs667438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs667523	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs667974	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs669866	0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs677127	0.94[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs677142	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs678540	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs684653	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs685117	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.91[ASN][1000 genomes]
rs8103672	0.84[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs8108818	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9676765	0.90[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056598	chr19:56331762-56703428	Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv580354	chr19:56505685-56723492	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
5	nsv833883	chr19:56512601-56640089	Strong transcription Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv523651	chr19:56537528-56707048	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv1057820	chr19:56555942-56720262	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv528998	chr19:56578238-56707048	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
9	nsv912512	chr19:56592286-56636759	Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking 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	33 gene(s)	inside rSNPs	diseases
10	nsv517365	chr19:56592286-56674548	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv912513	chr19:56592286-56685463	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
12	nsv521744	chr19:56592286-56686953	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
13	nsv912514	chr19:56596815-56636759	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
14	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
15	esv1809307	chr19:56604027-56633623	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
16	esv1811581	chr19:56609313-56631618	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
17	esv1824038	chr19:56610449-56636632	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56593000-56631200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:56618600-56630000	Weak transcription	Dnd41	blood
3	chr19:56620400-56631000	Enhancers	Pancreas	Pancrea
4	chr19:56620800-56630400	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr19:56620800-56631000	Weak transcription	Aorta	Aorta
6	chr19:56621000-56630000	Weak transcription	NHDF-Ad	bronchial
7	chr19:56622600-56630400	Weak transcription	Osteobl	bone
8	chr19:56622800-56630200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:56622800-56630400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:56623000-56631400	Genic enhancers	Spleen	Spleen
11	chr19:56623600-56629600	Weak transcription	NHLF	lung
12	chr19:56623600-56630000	Genic enhancers	HepG2	liver
13	chr19:56623600-56630200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr19:56623600-56630400	Weak transcription	HMEC	breast
15	chr19:56623600-56630600	Weak transcription	HSMMtube	muscle
16	chr19:56624200-56631800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr19:56624600-56631200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr19:56624800-56629600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:56624800-56630000	Weak transcription	Fetal Brain Female	brain
20	chr19:56624800-56630200	Weak transcription	Fetal Brain Male	brain
21	chr19:56624800-56630600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr19:56625000-56629800	Weak transcription	Fetal Heart	heart
23	chr19:56625000-56630400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:56625000-56630400	Weak transcription	HSMM	muscle
25	chr19:56625000-56631000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr19:56625000-56631000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr19:56625000-56631000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr19:56625200-56629600	Weak transcription	GM12878-XiMat	blood
29	chr19:56625400-56631000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr19:56625400-56631200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr19:56625600-56629600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:56625600-56629800	Weak transcription	Small Intestine	intestine
33	chr19:56625600-56630000	Weak transcription	Brain Germinal Matrix	brain
34	chr19:56625600-56630000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr19:56625600-56630800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:56626200-56630000	Strong transcription	A549	lung
37	chr19:56626200-56630800	Genic enhancers	Fetal Muscle Leg	muscle
38	chr19:56626400-56629800	Weak transcription	Brain Hippocampus Middle	brain
39	chr19:56626400-56630200	Weak transcription	Fetal Lung	lung
40	chr19:56626400-56630400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr19:56626400-56630400	Genic enhancers	Right Ventricle	heart
42	chr19:56626400-56630600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr19:56626400-56631000	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr19:56626600-56629800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr19:56626600-56629800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr19:56626600-56629800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr19:56626600-56630000	Weak transcription	Brain Substantia Nigra	brain
48	chr19:56626600-56630000	Weak transcription	Placenta	Placenta
49	chr19:56626600-56630000	Weak transcription	HUVEC	blood vessel
50	chr19:56626600-56630400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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