Variant report

Variant	rs6511012
Chromosome Location	chr19:19156111-19156112
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19142730..19148953-chr19:19149447..19156213,13	K562	blood:
2	chr19:19155234..19157690-chr19:19163937..19165951,2	K562	blood:
3	chr19:19155401..19157950-chr19:19174734..19177618,2	K562	blood:
4	chr19:19153988..19156786-chr19:19246941..19248675,2	K562	blood:
5	chr19:19152497..19156413-chr19:19157001..19159635,3	K562	blood:

Variant related genes	Relation type
ENSG00000105676	Chromatin interaction
ENSG00000064607	Chromatin interaction
ENSG00000181035	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10402411	0.82[AFR][1000 genomes]
rs10402553	1.00[EUR][1000 genomes]
rs10403808	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10404020	0.84[YRI][hapmap]
rs10404077	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10404860	1.00[EUR][1000 genomes]
rs10404879	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10405178	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10405609	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10406282	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10406341	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10406496	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10407260	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10407753	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10407980	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10408567	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10409265	0.82[ASW][hapmap];1.00[MEX][hapmap];0.92[YRI][hapmap]
rs10409297	0.86[AFR][1000 genomes]
rs10409395	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10411413	1.00[YRI][hapmap]
rs10411786	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10412101	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10413216	0.84[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10414535	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10414859	0.86[AFR][1000 genomes]
rs10415998	0.92[YRI][hapmap]
rs10416041	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10416054	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10416240	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10416250	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10416730	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10417310	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10417682	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10417995	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10418688	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10419114	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10419307	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10420479	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10420559	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10422058	0.87[LWK][hapmap];1.00[MEX][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10422079	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10422238	0.82[AFR][1000 genomes]
rs10422813	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10423129	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10423504	0.84[AFR][1000 genomes]
rs10426131	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13344769	1.00[EUR][1000 genomes]
rs13344835	0.92[YRI][hapmap]
rs13345246	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28369262	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28374656	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28376498	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28380085	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28416794	0.86[AFR][1000 genomes]
rs28421315	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28445835	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28475392	0.81[AFR][1000 genomes]
rs28477157	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28477961	0.88[AFR][1000 genomes]
rs28507927	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28530647	0.82[AFR][1000 genomes]
rs28568599	1.00[EUR][1000 genomes]
rs28582808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28619464	0.93[AFR][1000 genomes]
rs28628081	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28699197	0.82[ASW][hapmap];1.00[MEX][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs28720008	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2872205	1.00[MEX][hapmap]
rs35646935	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57654710	1.00[EUR][1000 genomes]
rs7248183	1.00[MEX][hapmap]
rs7252085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7252172	0.88[AFR][1000 genomes]
rs7256152	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8106189	0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9917000	1.00[EUR][1000 genomes]
rs9917034	1.00[EUR][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	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv1059305	chr19:19131310-19209999	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
3	nsv543927	chr19:19147376-19178024	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19145000-19174000	Weak transcription	Small Intestine	intestine
2	chr19:19145400-19165600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:19145400-19171800	Weak transcription	Right Atrium	heart
4	chr19:19145600-19159600	Weak transcription	NH-A	brain
5	chr19:19145600-19172200	Weak transcription	Stomach Mucosa	stomach
6	chr19:19145600-19173800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:19145600-19173800	Weak transcription	Fetal Kidney	kidney
8	chr19:19146600-19161800	Weak transcription	Psoas Muscle	Psoas
9	chr19:19148400-19161600	Weak transcription	Fetal Heart	heart
10	chr19:19149400-19164800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr19:19151000-19173800	Weak transcription	Fetal Brain Male	brain
12	chr19:19151200-19158000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr19:19151400-19162000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr19:19151800-19166000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr19:19151800-19173800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr19:19151800-19173800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr19:19152600-19173200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr19:19152800-19161000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr19:19152800-19171400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr19:19153000-19156200	Strong transcription	Dnd41	blood
21	chr19:19153200-19158800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr19:19153200-19158800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr19:19153200-19158800	Strong transcription	Fetal Muscle Trunk	muscle
24	chr19:19153200-19158800	Strong transcription	Thymus	Thymus
25	chr19:19153200-19159000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr19:19153200-19160000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:19153200-19171000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr19:19153200-19171200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr19:19153200-19171400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:19153200-19172200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:19153200-19173600	Strong transcription	Fetal Stomach	stomach
32	chr19:19153400-19156200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr19:19153400-19156200	Strong transcription	Primary B cells from cord blood	blood
34	chr19:19153400-19156200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr19:19153400-19156200	Strong transcription	Colonic Mucosa	Colon
36	chr19:19153400-19156200	Strong transcription	Esophagus	oesophagus
37	chr19:19153400-19156200	Strong transcription	Fetal Brain Female	brain
38	chr19:19153400-19156200	Strong transcription	Placenta	Placenta
39	chr19:19153400-19156200	Strong transcription	HepG2	liver
40	chr19:19153400-19156400	Strong transcription	Brain Germinal Matrix	brain
41	chr19:19153400-19156400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr19:19153400-19157000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr19:19153400-19157000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr19:19153400-19157400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr19:19153400-19158400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr19:19153400-19158800	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr19:19153400-19158800	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr19:19153400-19158800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr19:19153400-19159000	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr19:19153400-19159000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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