Variant report

Variant	rs10483807
Chromosome Location	chr14:68808824-68808825
allele	A/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	EP300	chr14:68808536-68808957	GM12878	blood:	n/a	chr14:68808775-68808784
2	IKZF1	chr14:68808336-68808984	GM12878	blood:	n/a	n/a
3	NFIC	chr14:68808283-68808880	GM12878	blood:	n/a	n/a
4	FOXM1	chr14:68808364-68809049	GM12878	blood:	n/a	n/a
5	GATA1	chr14:68808642-68809506	K562	blood:	n/a	chr14:68808673-68808683 chr14:68809150-68809157 chr14:68809148-68809158
6	NFIC	chr14:68808066-68809098	GM12878	blood:	n/a	n/a
7	RUNX3	chr14:68808288-68808953	GM12878	blood:	n/a	n/a
8	RUNX3	chr14:68808223-68808909	GM12878	blood:	n/a	n/a
9	EP300	chr14:68808626-68809240	K562	blood:	n/a	chr14:68808775-68808784
10	MEF2A	chr14:68808305-68808929	GM12878	blood:	n/a	chr14:68808675-68808683
11	BHLHE40	chr14:68808510-68808999	GM12878	blood:	n/a	n/a
12	ATF2	chr14:68808250-68809007	GM12878	blood:	n/a	n/a
13	ZNF384	chr14:68808516-68808998	GM12878	blood:	n/a	n/a
14	TBL1XR1	chr14:68808471-68809004	GM12878	blood:	n/a	n/a
15	EP300	chr14:68808468-68809207	GM12878	blood:	n/a	chr14:68808775-68808784
16	MYC	chr14:68808751-68809260	K562	blood:	n/a	n/a
17	BHLHE40	chr14:68808730-68809251	K562	blood:	n/a	n/a
18	USF2	chr14:68808692-68808950	GM12878	blood:	n/a	n/a
19	MTA3	chr14:68808176-68809366	GM12878	blood:	n/a	n/a
20	POLR2A	chr14:68808575-68808969	SK-N-MC	brain:	n/a	n/a
21	EBF1	chr14:68808596-68808925	GM12878	blood:	n/a	n/a
22	CUX1	chr14:68808431-68808927	GM12878	blood:	n/a	n/a
23	EP300	chr14:68808472-68809055	GM12878	blood:	n/a	chr14:68808775-68808784
24	BCLAF1	chr14:68808441-68809041	GM12878	blood:	n/a	n/a
25	STAT5A	chr14:68808353-68808907	GM12878	blood:	n/a	n/a
26	RCOR1	chr14:68808769-68809368	K562	blood:	n/a	n/a
27	ELK1	chr14:68808706-68808987	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68808236..68811175-chr14:68815933..68818264,2	K562	blood:
2	chr14:68808236..68810684-chr14:68816764..68819058,2	K562	blood:

Variant related genes	Relation type
ENSG00000240210	TF binding region

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10131654	0.83[CHB][hapmap]
rs10141370	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10144669	0.83[CHB][hapmap]
rs1028577	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1108590	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11158728	0.96[CEU][hapmap];0.90[GIH][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs11158729	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11158730	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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626138	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11626195	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11627646	0.91[ASW][hapmap];1.00[CEU][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11628825	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11628890	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11628954	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12878627	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12878858	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12880109	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880842	0.91[EUR][1000 genomes]
rs12881502	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12883719	1.00[CEU][hapmap];0.87[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12884901	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12885750	1.00[CEU][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12886238	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12889949	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12890110	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12890124	1.00[CEU][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12890167	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12892777	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12896939	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1956523	0.83[CHB][hapmap]
rs1956524	1.00[CEU][hapmap];0.87[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1956525	0.96[CEU][hapmap];0.83[CHB][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1956526	0.96[CEU][hapmap];0.83[CHB][hapmap];0.95[GIH][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1956528	1.00[CEU][hapmap];0.80[CHD][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1956529	0.91[ASW][hapmap];1.00[CEU][hapmap];0.80[CHD][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1956532	0.92[ASW][hapmap];1.00[CEU][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];0.93[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2013413	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2064911	1.00[CEU][hapmap];0.87[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2064912	0.91[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2145422	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2145423	1.00[CEU][hapmap];0.90[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2180769	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2180770	1.00[CEU][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2877455	0.96[CEU][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3784099	0.85[LWK][hapmap]
rs3784104	1.00[CEU][hapmap];0.80[CHD][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3784106	0.97[GIH][hapmap]
rs3784108	1.00[CEU][hapmap];0.82[CHD][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3784109	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3825730	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902566	0.90[GIH][hapmap]
rs61985135	0.93[EUR][1000 genomes]
rs61985136	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7146850	1.00[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7147852	1.00[CEU][hapmap];0.90[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7148073	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7149396	0.83[CHB][hapmap];0.95[GIH][hapmap]
rs7150988	0.91[ASW][hapmap];1.00[CEU][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7151629	1.00[GIH][hapmap]
rs7155473	0.87[EUR][1000 genomes]
rs7158493	1.00[CEU][hapmap];0.87[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7493547	0.83[CHB][hapmap]
rs8017304	1.00[CEU][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs911254	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];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs911255	0.83[CHB][hapmap]
rs911258	0.86[CHB][hapmap]
rs911263	0.82[LWK][hapmap]
rs927220	0.90[GIH][hapmap]

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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv564962	chr14:68795209-68837882	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10483807	MTHFD1	cis	cerebellum	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68769000-68810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:68785600-68812400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr14:68789600-68810400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:68804000-68810400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:68804000-68813400	Weak transcription	Colon Smooth Muscle	Colon
6	chr14:68804400-68812800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr14:68806200-68811200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:68806400-68810800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr14:68806400-68810800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr14:68806400-68810800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr14:68806400-68811000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr14:68806600-68809600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr14:68806800-68809600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:68807000-68809000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr14:68807000-68809600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr14:68807000-68811000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr14:68807000-68811000	Enhancers	Primary B cells from peripheral blood	blood
18	chr14:68807200-68810600	Weak transcription	Gastric	stomach
19	chr14:68807400-68809400	Enhancers	Primary B cells from cord blood	blood
20	chr14:68807600-68809200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:68807600-68811000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr14:68807800-68810000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr14:68808000-68809200	Enhancers	Fetal Lung	lung
24	chr14:68808000-68809400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr14:68808000-68809400	Enhancers	Fetal Stomach	stomach
26	chr14:68808200-68809000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr14:68808200-68809200	Enhancers	Fetal Intestine Small	intestine
28	chr14:68808200-68809200	Enhancers	Left Ventricle	heart
29	chr14:68808200-68809400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr14:68808200-68809400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr14:68808200-68809400	Enhancers	Fetal Heart	heart
32	chr14:68808200-68809600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:68808200-68809600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:68808200-68809600	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr14:68808200-68811000	Enhancers	Primary T cells from cord blood	blood
36	chr14:68808200-68811000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr14:68808200-68811200	Enhancers	Fetal Thymus	thymus
38	chr14:68808400-68809000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr14:68808400-68809000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:68808400-68809000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr14:68808400-68809000	Enhancers	Fetal Intestine Large	intestine
42	chr14:68808400-68809200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:68808400-68809200	Enhancers	Primary T cells fromperipheralblood	blood
44	chr14:68808400-68809200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr14:68808400-68809200	Enhancers	Right Atrium	heart
46	chr14:68808400-68809200	Enhancers	Small Intestine	intestine
47	chr14:68808400-68809400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:68808400-68809400	Enhancers	Spleen	Spleen
49	chr14:68808400-68809600	Enhancers	Duodenum Mucosa	Duodenum
50	chr14:68808600-68810400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links