Variant report

Variant	rs4808961
Chromosome Location	chr19:19577215-19577216
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19573739..19577960-chr19:19580596..19583736,3	MCF-7	breast:
2	chr19:19566080..19568090-chr19:19575455..19577362,2	K562	blood:
3	chr19:19571463..19575965-chr19:19576361..19580794,6	K562	blood:
4	chr19:19516568..19518207-chr19:19573514..19577628,3	MCF-7	breast:
5	chr19:19515140..19518800-chr19:19574675..19578008,3	K562	blood:

Variant related genes	Relation type
ENSG00000167491	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs1000237	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1009136	0.92[CEU][hapmap];0.85[JPT][hapmap];0.88[YRI][hapmap]
rs1010207	0.84[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs10282	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10401193	0.94[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs10402308	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs10402451	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10402627	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10404728	0.87[ASN][1000 genomes]
rs10405625	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10408401	0.85[ASN][1000 genomes]
rs10410664	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10414830	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10419912	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10422819	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1047361	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1054284	0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1054930	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1063966	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11669516	0.93[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs12972397	0.94[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs12973258	0.94[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs12975119	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12977524	0.94[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs13964	0.96[CEU][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap]
rs1465695	0.87[ASN][1000 genomes]
rs1469712	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1469713	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs15622	0.92[CEU][hapmap];1.00[YRI][hapmap]
rs17288409	0.84[ASN][1000 genomes]
rs1808653	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1858999	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1865034	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2074088	0.82[AFR][1000 genomes]
rs2074089	0.92[CEU][hapmap];1.00[YRI][hapmap]
rs2074090	0.92[CEU][hapmap];1.00[YRI][hapmap]
rs2074303	0.84[CEU][hapmap];0.80[JPT][hapmap];0.92[YRI][hapmap]
rs2074550	0.84[CEU][hapmap];0.80[JPT][hapmap];0.92[YRI][hapmap]
rs2082421	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2099333	0.87[ASN][1000 genomes]
rs2099334	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2163804	0.94[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs2163805	0.91[ASN][1000 genomes]
rs2269873	0.84[CEU][hapmap];0.80[JPT][hapmap];0.92[YRI][hapmap]
rs2285627	0.92[CEU][hapmap]
rs2288852	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2301784	0.84[CEU][hapmap];0.81[JPT][hapmap];0.92[YRI][hapmap]
rs2301786	0.84[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs2304098	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2315025	0.86[JPT][hapmap]
rs2315279	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2315281	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2315610	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28478453	0.90[ASN][1000 genomes]
rs2905421	0.87[CEU][hapmap];1.00[YRI][hapmap]
rs2905424	0.92[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap]
rs2905425	0.92[CEU][hapmap];0.86[JPT][hapmap]
rs2905430	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2905431	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2905435	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2916069	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2916073	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2916074	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2916076	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2965175	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2965180	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2965182	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2965183	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2965185	0.84[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs2965188	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2965189	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2965193	0.88[CEU][hapmap];1.00[YRI][hapmap]
rs2965198	0.92[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs34277109	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34538000	0.82[AFR][1000 genomes]
rs34647936	0.91[ASN][1000 genomes]
rs35418933	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3752151	0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3764567	0.88[CEU][hapmap]
rs3794990	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3794993	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4808198	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4808199	0.94[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs4808200	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808202	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808203	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808208	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4808950	0.84[ASN][1000 genomes]
rs4808955	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4808957	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4808959	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4808960	0.94[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs4808964	0.96[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4808965	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4808967	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs60003758	0.91[ASN][1000 genomes]
rs60321073	0.84[ASN][1000 genomes]
rs6511026	0.84[CEU][hapmap];0.80[JPT][hapmap];0.92[YRI][hapmap]
rs6511036	0.94[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs6511038	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6909	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7245983	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs7250658	0.87[ASN][1000 genomes]
rs7250893	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7252888	0.94[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs7253807	0.90[ASN][1000 genomes]
rs7254230	0.92[CEU][hapmap];0.86[JPT][hapmap]
rs7254748	0.84[CEU][hapmap];1.00[YRI][hapmap]
rs7256149	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs735273	0.83[CEU][hapmap];0.80[JPT][hapmap];0.92[YRI][hapmap]
rs747050	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs751856	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs751858	0.95[ASN][1000 genomes]
rs754255	0.91[ASN][1000 genomes]
rs769267	0.92[CEU][hapmap];1.00[YRI][hapmap]
rs8103197	0.92[CEU][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap]
rs8103496	0.84[CEU][hapmap];0.80[JPT][hapmap];0.92[YRI][hapmap]
rs8108647	0.85[JPT][hapmap]
rs892021	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs892022	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9917108	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19575000-19577400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:19575000-19577400	Genic enhancers	Fetal Muscle Trunk	muscle
3	chr19:19575000-19577400	Genic enhancers	Fetal Muscle Leg	muscle
4	chr19:19575000-19577400	Genic enhancers	HSMM	muscle
5	chr19:19575000-19578200	Weak transcription	Fetal Brain Male	brain
6	chr19:19575000-19578600	Weak transcription	Small Intestine	intestine
7	chr19:19575200-19577400	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr19:19575200-19577600	Strong transcription	Primary B cells from peripheral blood	blood
9	chr19:19575200-19577800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr19:19575200-19578000	Strong transcription	HepG2	liver
11	chr19:19575400-19577400	Strong transcription	Primary T cells from cord blood	blood
12	chr19:19575400-19577600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr19:19575400-19578200	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr19:19575400-19578800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr19:19575600-19577600	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr19:19575600-19577800	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr19:19575600-19578000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:19575600-19578200	Strong transcription	Liver	Liver
19	chr19:19575600-19581600	ZNF genes & repeats	GM12878-XiMat	blood
20	chr19:19575800-19577400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:19575800-19577400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr19:19575800-19577400	Strong transcription	Right Ventricle	heart
23	chr19:19575800-19577600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr19:19575800-19577600	Strong transcription	A549	lung
25	chr19:19575800-19577600	Strong transcription	NHEK	skin
26	chr19:19575800-19577600	Strong transcription	NHLF	lung
27	chr19:19575800-19578000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr19:19575800-19578000	Strong transcription	Spleen	Spleen
29	chr19:19575800-19578200	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr19:19575800-19578200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:19575800-19578200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr19:19575800-19578400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr19:19575800-19578600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr19:19575800-19578800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr19:19575800-19578800	Strong transcription	Colonic Mucosa	Colon
36	chr19:19575800-19578800	Weak transcription	Right Atrium	heart
37	chr19:19575800-19579000	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr19:19575800-19579600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr19:19575800-19579800	ZNF genes & repeats	Dnd41	blood
40	chr19:19575800-19580000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr19:19575800-19580600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
42	chr19:19575800-19580800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr19:19575800-19581600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:19576000-19577400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr19:19576000-19577400	Strong transcription	Brain Cingulate Gyrus	brain
46	chr19:19576000-19577400	Strong transcription	Fetal Brain Female	brain
47	chr19:19576000-19577600	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr19:19576000-19577600	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr19:19576000-19577600	Strong transcription	HMEC	breast
50	chr19:19576000-19577800	Strong transcription	Brain Inferior Temporal Lobe	brain

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