Variant report

Variant	rs7144370
Chromosome Location	chr14:64319033-64319034
allele	G/T
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	chr14:64319006-64320504	IMR90	lung:	n/a	n/a
2	HA-E2F1	chr14:64318993-64320964	MCF-7	breast:	n/a	chr14:64320675-64320692 chr14:64320299-64320306 chr14:64320299-64320306 chr14:64319654-64319663 chr14:64320467-64320477 chr14:64320295-64320307 chr14:64319658-64319670 chr14:64320081-64320090 chr14:64320464-64320474 chr14:64320299-64320306 chr14:64319695-64319706 chr14:64319658-64319667 chr14:64319683-64319694 chr14:64319776-64319783 chr14:64320500-64320509
3	POLR2A	chr14:64318943-64320899	H1-hESC	embryonic stem cell:	n/a	n/a
4	SP1	chr14:64318989-64319531	H1-hESC	embryonic stem cell:	n/a	chr14:64319460-64319469
5	WRNIP1	chr14:64319017-64319356	GM12878	blood:	n/a	n/a
6	SP1	chr14:64318921-64319703	H1-hESC	embryonic stem cell:	n/a	chr14:64319675-64319684 chr14:64319460-64319469 chr14:64319674-64319684
7	POLR2A	chr14:64319033-64320505	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64318775..64319715-chr6:26156466..26157229,2	Hela-S3	cervix:

Variant related genes	Relation type
SYNE2	TF binding region
ENSG00000202182	TF binding region
ENSG00000168298	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1000904	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10873171	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12161903	0.80[ASN][1000 genomes]
rs12431956	0.80[ASN][1000 genomes]
rs12432760	0.80[ASN][1000 genomes]
rs12435958	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12436656	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12587452	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12893838	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2151763	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357001	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34486661	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35234298	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36050513	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4902249	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902251	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4902252	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55925976	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61985747	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61985748	0.83[ASN][1000 genomes]
rs6573532	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573533	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573535	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6573536	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66460676	0.80[ASN][1000 genomes]
rs66764453	0.80[ASN][1000 genomes]
rs67106029	0.83[ASN][1000 genomes]
rs7145302	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7145736	0.83[ASN][1000 genomes]
rs7145810	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146469	0.83[ASN][1000 genomes]
rs7149609	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7150540	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7153723	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7158960	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7161586	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73276854	0.80[ASN][1000 genomes]
rs8004989	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8008800	0.81[ASN][1000 genomes]
rs8009846	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8010094	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs945031	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs951250	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037140	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv542119	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3416242	chr14:64263248-64321769	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	esv3368767	chr14:64268248-64321769	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv3355344	chr14:64268248-64323934	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	esv3341450	chr14:64318649-64321797	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	esv3439844	chr14:64318824-64321372	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64312800-64319200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr14:64316200-64319200	Weak transcription	Stomach Mucosa	stomach
3	chr14:64318800-64319200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr14:64318800-64319200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr14:64318800-64319400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr14:64318800-64319600	Active TSS	Fetal Lung	lung
7	chr14:64318800-64321000	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr14:64318800-64321200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr14:64318800-64321400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr14:64318800-64321800	Active TSS	Fetal Kidney	kidney
11	chr14:64318800-64322600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr14:64319000-64319200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
13	chr14:64319000-64319200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:64319000-64319200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:64319000-64319200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
16	chr14:64319000-64319200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
17	chr14:64319000-64319200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
18	chr14:64319000-64319200	Enhancers	Primary B cells from peripheral blood	blood
19	chr14:64319000-64319200	Enhancers	Primary T cells fromperipheralblood	blood
20	chr14:64319000-64319200	Enhancers	Primary hematopoietic stem cells	blood
21	chr14:64319000-64319200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
22	chr14:64319000-64319200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:64319000-64319200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr14:64319000-64319200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr14:64319000-64319200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr14:64319000-64319200	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr14:64319000-64319200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr14:64319000-64319200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:64319000-64319200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:64319000-64319200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr14:64319000-64319200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:64319000-64319200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:64319000-64319200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:64319000-64319200	Enhancers	Aorta	Aorta
35	chr14:64319000-64319200	Enhancers	Liver	Liver
36	chr14:64319000-64319200	Enhancers	Placenta	Placenta
37	chr14:64319000-64319200	Bivalent Enhancer	Fetal Thymus	thymus
38	chr14:64319000-64319200	Enhancers	Left Ventricle	heart
39	chr14:64319000-64319200	Enhancers	Ovary	ovary
40	chr14:64319000-64319200	Enhancers	Placenta Amnion	Placenta Amnion
41	chr14:64319000-64319200	Enhancers	Psoas Muscle	Psoas
42	chr14:64319000-64319200	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr14:64319000-64319200	Active TSS	Rectal Smooth Muscle	rectum
44	chr14:64319000-64319200	Enhancers	Right Atrium	heart
45	chr14:64319000-64319200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr14:64319000-64319200	Enhancers	Thymus	Thymus
47	chr14:64319000-64319200	Flanking Active TSS	Spleen	Spleen
48	chr14:64319000-64319200	Enhancers	HMEC	breast
49	chr14:64319000-64319200	Enhancers	HUVEC	blood vessel
50	chr14:64319000-64319200	Flanking Bivalent TSS/Enh	NH-A	brain

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