Variant report

Variant	rs10500287
Chromosome Location	chr19:44331970-44331971
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr19:44330804-44332486	IMR90	lung:	n/a	n/a
2	BHLHE40	chr19:44331285-44331994	K562	blood:	n/a	n/a
3	POLR2A	chr19:44331331-44332049	MCF-7	breast:	n/a	n/a
4	MAX	chr19:44331082-44332076	MCF-7	breast:	n/a	chr19:44331687-44331697
5	MAZ	chr19:44331052-44332158	IMR90	lung:	n/a	chr19:44331687-44331697
6	MYC	chr19:44331302-44331992	MCF10A-Er-Src	breast:	n/a	chr19:44331687-44331697
7	MXI1	chr19:44330924-44332286	SK-N-SH	brain:	n/a	n/a
8	MYC	chr19:44331258-44332026	K562	blood:	n/a	chr19:44331687-44331697
9	E2F6	chr19:44330914-44332098	A549	lung:	n/a	n/a
10	MAX	chr19:44331127-44331990	SK-N-SH	brain:	n/a	chr19:44331687-44331697
11	MAX	chr19:44331201-44332040	SK-N-SH	brain:	n/a	chr19:44331687-44331697
12	MAX	chr19:44331008-44332075	ECC-1	luminal epithelium:	n/a	chr19:44331687-44331697
13	MAX	chr19:44330749-44332187	A549	lung:	n/a	chr19:44331687-44331697
14	POLR2A	chr19:44331258-44331990	MCF-7	breast:	n/a	n/a
15	MXI1	chr19:44331313-44331989	Hela-S3	cervix:	n/a	n/a
16	E2F6	chr19:44331116-44332038	K562	blood:	n/a	n/a
17	TBP	chr19:44331265-44331983	K562	blood:	n/a	n/a
18	MAX	chr19:44331056-44332121	ECC-1	luminal epithelium:	n/a	chr19:44331687-44331697
19	TCF12	chr19:44331026-44331999	A549	lung:	n/a	n/a
20	MAX	chr19:44331268-44331972	Hela-S3	cervix:	n/a	chr19:44331687-44331697
21	POLR2A	chr19:44331166-44331990	PFSK-1	brain:	n/a	n/a
22	MAX	chr19:44331062-44332028	HCT-116	colon:	n/a	chr19:44331687-44331697
23	ELF1	chr19:44331115-44331979	MCF-7	breast:	n/a	n/a
24	MYC	chr19:44331582-44331975	MCF-7	breast:	n/a	chr19:44331687-44331697
25	RCOR1	chr19:44331193-44331991	K562	blood:	n/a	n/a
26	MAX	chr19:44331178-44331999	A549	lung:	n/a	chr19:44331687-44331697
27	MAX	chr19:44331142-44332102	K562	blood:	n/a	chr19:44331687-44331697
28	MXI1	chr19:44331168-44331981	HepG2	liver:	n/a	n/a
29	MAX	chr19:44331321-44332074	NB4	blood:	n/a	chr19:44331687-44331697
30	MAX	chr19:44331057-44332054	HepG2	liver:	n/a	chr19:44331687-44331697
31	JUN	chr19:44331174-44332267	K562	blood:	n/a	chr19:44331370-44331384
32	MYC	chr19:44331543-44332031	MCF-7	breast:	n/a	chr19:44331687-44331697
33	MAX	chr19:44330953-44332073	HCT-116	colon:	n/a	chr19:44331687-44331697
34	GABPA	chr19:44331018-44332056	SK-N-SH	brain:	n/a	n/a
35	SIN3AK20	chr19:44331402-44332012	SK-N-SH	brain:	n/a	n/a
36	HCFC1	chr19:44330971-44332174	Hela-S3	cervix:	n/a	n/a
37	MAX	chr19:44331141-44332027	H1-hESC	embryonic stem cell:	n/a	chr19:44331687-44331697
38	POLR2A	chr19:44331298-44331987	K562	blood:	n/a	n/a
39	MAX	chr19:44331067-44332081	A549	lung:	n/a	chr19:44331687-44331697
40	MAX	chr19:44331220-44332158	K562	blood:	n/a	chr19:44331687-44331697
41	MYC	chr19:44331245-44331983	K562	blood:	n/a	chr19:44331687-44331697
42	MAX	chr19:44331078-44331999	MCF-7	breast:	n/a	chr19:44331687-44331697

No.	Distal block	Cell Line	Cell type
1	chr19:44331547..44333384-chr19:45002930..45004694,2	MCF-7	breast:
2	chr19:44330249..44332710-chr19:44437495..44440338,2	MCF-7	breast:
3	chr19:44330466..44332260-chr19:44438054..44440025,2	K562	blood:
4	chr19:44323198..44325701-chr19:44330167..44332994,2	K562	blood:

Variant related genes	Relation type
LYPD5	TF binding region
ZNF283	TF binding region
ENSG00000124459	Chromatin interaction
ENSG00000159871	Chromatin interaction
ENSG00000167384	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1036246	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10405318	0.96[CEU][hapmap];0.93[CHB][hapmap];0.80[JPT][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10408461	1.00[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10412955	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10415344	0.96[CEU][hapmap];0.86[CHB][hapmap];0.80[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10416116	0.96[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10421861	0.90[EUR][1000 genomes]
rs10500286	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11878787	0.96[CEU][hapmap];0.93[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11879541	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11880651	1.00[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12462507	0.83[ASN][1000 genomes]
rs12608578	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13344589	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1549953	0.96[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1549954	0.96[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1549955	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1549956	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1549957	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1549959	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1565057	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17712224	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1909	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1964381	0.90[EUR][1000 genomes]
rs1994414	0.96[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1994415	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1994416	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2016345	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2099356	0.83[ASN][1000 genomes]
rs2163855	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2195981	0.96[CEU][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2217669	0.96[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2356401	1.00[CEU][hapmap];0.93[CHB][hapmap];0.80[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2356403	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2356432	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2356433	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2356434	0.96[CEU][hapmap];0.86[CHB][hapmap];0.80[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2356438	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2356439	0.96[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs239948	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs239949	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2883946	0.96[CEU][hapmap];0.86[CHB][hapmap];0.80[JPT][hapmap]
rs349032	0.92[CEU][hapmap];0.93[CHB][hapmap];0.80[JPT][hapmap];0.85[ASN][1000 genomes]
rs4511643	0.96[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57096959	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57133938	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59503823	0.83[EUR][1000 genomes]
rs60036744	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60085895	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62114569	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62118368	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62118369	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62118371	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62118372	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6509120	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7247308	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7247863	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7248807	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7249057	0.96[CEU][hapmap];0.93[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7249413	0.96[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap]
rs7253002	0.96[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7253384	0.96[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7253606	0.96[CEU][hapmap];0.92[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7254659	0.86[CHB][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7259647	0.91[EUR][1000 genomes]
rs73052639	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73052665	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7508701	0.85[ASN][1000 genomes]
rs8099861	0.96[CEU][hapmap];0.85[CHB][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8106802	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8112065	0.96[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8113286	0.96[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.82[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	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 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	chr19:44330400-44332000	Active TSS	Fetal Brain Female	brain
2	chr19:44330600-44332200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr19:44330800-44332000	Active TSS	Primary T cells from cord blood	blood
4	chr19:44330800-44332000	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr19:44330800-44332000	Active TSS	Stomach Smooth Muscle	stomach
6	chr19:44330800-44332000	Active TSS	A549	lung
7	chr19:44330800-44332200	Flanking Active TSS	Thymus	Thymus
8	chr19:44331000-44332000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr19:44331000-44332000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr19:44331000-44332000	Active TSS	Muscle Satellite Cultured Cells	--
11	chr19:44331000-44332000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:44331000-44332000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr19:44331000-44332000	Active TSS	Esophagus	oesophagus
14	chr19:44331000-44332000	Active TSS	Fetal Lung	lung
15	chr19:44331000-44332000	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr19:44331000-44332000	Active TSS	Hela-S3	cervix
17	chr19:44331000-44332200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr19:44331000-44332200	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr19:44331000-44332200	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr19:44331000-44332200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr19:44331000-44332200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr19:44331000-44332200	Active TSS	Colonic Mucosa	Colon
23	chr19:44331000-44332200	Active TSS	HSMMtube	muscle
24	chr19:44331000-44332400	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr19:44331000-44332400	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr19:44331000-44332400	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr19:44331000-44332400	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr19:44331000-44332400	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr19:44331000-44332400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr19:44331000-44332400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr19:44331000-44332400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr19:44331000-44332400	Flanking Active TSS	Dnd41	blood
33	chr19:44331000-44332400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr19:44331000-44332600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:44331200-44332000	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr19:44331200-44332000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr19:44331200-44332000	Active TSS	Aorta	Aorta
38	chr19:44331200-44332000	Active TSS	Fetal Brain Male	brain
39	chr19:44331200-44332000	Active TSS	Fetal Kidney	kidney
40	chr19:44331200-44332000	Active TSS	Ovary	ovary
41	chr19:44331200-44332000	Active TSS	Psoas Muscle	Psoas
42	chr19:44331200-44332000	Active TSS	NHDF-Ad	bronchial
43	chr19:44331200-44332200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr19:44331200-44332200	Active TSS	H1 Cell Line	embryonic stem cell
45	chr19:44331200-44332200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr19:44331200-44332200	Active TSS	Fetal Heart	heart
47	chr19:44331200-44332200	Active TSS	Fetal Intestine Small	intestine
48	chr19:44331200-44332200	Active TSS	Gastric	stomach
49	chr19:44331200-44332200	Active TSS	Left Ventricle	heart
50	chr19:44331200-44332200	Active TSS	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links