Variant report

Variant	rs8004501
Chromosome Location	chr14:103981662-103981663
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10459573	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11160750	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11160752	0.91[ASN][1000 genomes]
rs11541718	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11625172	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12147655	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12185021	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12588705	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12879663	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12880224	0.80[ASN][1000 genomes]
rs12881583	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12882130	0.81[AMR][1000 genomes]
rs12883668	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12885234	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12885714	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12885762	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12885786	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12888042	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12889703	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12892062	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12894275	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12896612	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12896832	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12896919	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13987	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17617094	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17617307	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17617832	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17617935	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17679729	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17680085	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1951389	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2021965	0.81[ASN][1000 genomes]
rs2065015	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2065016	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2065017	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2065018	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2236281	0.82[ASN][1000 genomes]
rs2246490	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2296487	0.81[ASN][1000 genomes]
rs2756138	0.81[ASN][1000 genomes]
rs2765041	0.87[ASN][1000 genomes]
rs28711288	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34161327	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34235720	0.80[ASN][1000 genomes]
rs34347076	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34372508	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34479426	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34606394	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35056010	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35126287	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35224956	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35339837	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35344594	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35366629	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35443927	0.86[AMR][1000 genomes]
rs35466180	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35771849	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35799018	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35862113	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35999760	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3783396	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3783397	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3783398	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3783400	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4900574	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4900575	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4906323	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4906327	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4906330	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4906331	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4906332	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55731474	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55930273	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59858038	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7141674	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71417863	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7143609	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7155822	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7155980	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7159665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7401563	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8004780	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8012127	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8012623	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs911549	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
3	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	esv1835815	chr14:103942991-103989757	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
5	nsv1044967	chr14:103954727-104007051	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	esv1807091	chr14:103956182-104020454	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	esv1835824	chr14:103956182-104020454	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	esv1818859	chr14:103967299-103989757	Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
11	esv1833254	chr14:103967299-103989757	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
12	esv1835374	chr14:103967299-103989757	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
13	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
14	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
15	esv1834605	chr14:103969909-104003091	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	nsv902301	chr14:103979953-104003094	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
17	esv1850440	chr14:103979953-104007555	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
18	nsv902302	chr14:103979953-104018455	Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
19	nsv902303	chr14:103979953-104034746	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
20	nsv902304	chr14:103979953-104061646	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
21	nsv902305	chr14:103979953-104073551	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103970400-103984600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr14:103970600-103984200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:103971000-103984400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:103971600-103987000	Weak transcription	Small Intestine	intestine
5	chr14:103971800-103985200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr14:103971800-103985800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:103972000-103983400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:103972000-103984400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr14:103972000-103985200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:103972000-103987000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr14:103972200-103985000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr14:103974600-103985400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr14:103975400-103985400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr14:103976400-103985200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr14:103976600-103985600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr14:103976800-103984200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr14:103977000-103984600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:103977000-103984600	Weak transcription	K562	blood
19	chr14:103977000-103985000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr14:103977000-103986800	Weak transcription	Primary B cells from cord blood	blood
21	chr14:103977000-103987000	Weak transcription	Dnd41	blood
22	chr14:103977400-103985400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr14:103977600-103984600	Weak transcription	Hela-S3	cervix
24	chr14:103977600-103985200	Weak transcription	GM12878-XiMat	blood
25	chr14:103977800-103984600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr14:103977800-103984600	Weak transcription	HUVEC	blood vessel
27	chr14:103978000-103984000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr14:103978000-103984400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:103978000-103984600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr14:103978000-103984800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr14:103978000-103985000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr14:103978000-103985200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr14:103978000-103985200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr14:103978200-103984200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:103978200-103984400	Weak transcription	Liver	Liver
36	chr14:103978200-103985200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:103979000-103981800	Enhancers	Esophagus	oesophagus
38	chr14:103979200-103984800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr14:103979400-103984600	Weak transcription	Fetal Intestine Large	intestine
40	chr14:103979400-103984600	Weak transcription	A549	lung
41	chr14:103979400-103985000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr14:103979400-103985200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:103979600-103982200	Strong transcription	Fetal Intestine Small	intestine
44	chr14:103979600-103984200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr14:103979800-103982200	Weak transcription	HepG2	liver
46	chr14:103979800-103983000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:103979800-103983200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr14:103979800-103984200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr14:103979800-103984600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:103979800-103984600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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