Variant report

Variant	rs1998688
Chromosome Location	chr14:65562306-65562307
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65560947..65564608-chr14:65566060..65569242,4	K562	blood:
2	chr14:65555858..65557648-chr14:65560115..65562655,3	K562	blood:
3	chr14:65558796..65564739-chr14:65566972..65570414,12	MCF-7	breast:
4	chr14:65560947..65564339-chr14:65566060..65569042,5	K562	blood:

Variant related genes	Relation type
ENSG00000125952	Chromatin interaction
ENSG00000259118	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10143198	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10151162	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.94[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11158572	0.82[EUR][1000 genomes]
rs11158573	0.81[EUR][1000 genomes]
rs11158574	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs1124751	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.85[JPT][hapmap];0.89[LWK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1124752	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];0.86[LWK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11625045	0.84[CEU][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs11626720	0.80[EUR][1000 genomes]
rs12147959	0.81[EUR][1000 genomes]
rs1256417	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1270074	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1271582	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880781	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs12888794	0.82[EUR][1000 genomes]
rs1953228	0.87[EUR][1000 genomes]
rs1953232	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1957948	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1957949	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2093989	0.94[EUR][1000 genomes]
rs2151755	0.88[CEU][hapmap];0.95[CHB][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2763888	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2781373	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];0.86[LWK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2781374	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2781375	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34459643	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35410051	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35520739	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35769504	0.81[EUR][1000 genomes]
rs45604339	0.84[EUR][1000 genomes]
rs4899161	0.92[CEU][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes]
rs4902357	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902358	0.84[CEU][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs4902359	1.00[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.95[TSI][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902360	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902361	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902362	0.88[ASN][1000 genomes]
rs55658675	0.86[EUR][1000 genomes]
rs7143495	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs7145112	0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7146939	0.83[ASN][1000 genomes]
rs7150646	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7152277	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7154852	0.87[EUR][1000 genomes]
rs7156617	0.92[CEU][hapmap];0.90[TSI][hapmap];0.93[EUR][1000 genomes]
rs7158239	0.93[ASW][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];0.84[JPT][hapmap];0.82[LWK][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7159443	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7161394	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs762810	0.80[EUR][1000 genomes]
rs8005829	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8008095	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8009396	0.82[EUR][1000 genomes]
rs8009714	0.82[EUR][1000 genomes]
rs8010213	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8015921	0.93[ASW][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap];0.82[LWK][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8181937	0.83[EUR][1000 genomes]
rs8181938	0.83[EUR][1000 genomes]
rs8181939	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs884683	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs942626	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs942627	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs942628	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs942629	0.86[ASW][hapmap];0.88[CEU][hapmap];0.91[CHB][hapmap];0.85[LWK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs998247	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[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	nsv832816	chr14:65473244-65644645	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 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	chr14:65539000-65562400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:65539600-65563200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:65545400-65563000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:65546200-65562400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:65546400-65562400	Strong transcription	Placenta	Placenta
6	chr14:65548800-65563200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr14:65548800-65564800	Strong transcription	HUVEC	blood vessel
8	chr14:65549600-65562400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:65552600-65562800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:65552600-65563200	Strong transcription	NHEK	skin
11	chr14:65553200-65562400	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr14:65553400-65565200	Strong transcription	Hela-S3	cervix
13	chr14:65553600-65562800	Strong transcription	NH-A	brain
14	chr14:65554000-65562400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:65554000-65562400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:65554400-65563400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr14:65555000-65565400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr14:65555400-65562600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr14:65555400-65562600	Strong transcription	HSMM	muscle
20	chr14:65555400-65563200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr14:65555800-65565200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:65556000-65562800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:65556200-65562600	Strong transcription	Thymus	Thymus
24	chr14:65556200-65562600	Strong transcription	Dnd41	blood
25	chr14:65556400-65562400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
26	chr14:65556400-65567200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:65556400-65567600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:65556400-65569000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr14:65556800-65562400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr14:65556800-65563200	Strong transcription	GM12878-XiMat	blood
31	chr14:65556800-65567800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr14:65557000-65564400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr14:65557000-65565400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:65557200-65566800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:65557600-65568000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:65558200-65562800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
37	chr14:65558200-65563400	Strong transcription	Primary B cells from cord blood	blood
38	chr14:65558800-65564000	Genic enhancers	Fetal Intestine Small	intestine
39	chr14:65558800-65565200	Enhancers	Stomach Mucosa	stomach
40	chr14:65559000-65562600	Weak transcription	Fetal Brain Male	brain
41	chr14:65560400-65563800	Genic enhancers	Primary T cells fromperipheralblood	blood
42	chr14:65560400-65563800	Enhancers	Psoas Muscle	Psoas
43	chr14:65560400-65564800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr14:65560400-65565000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
45	chr14:65560600-65563200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr14:65560600-65563600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr14:65560600-65564200	Enhancers	Right Ventricle	heart
48	chr14:65560600-65567800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr14:65560600-65568000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr14:65560800-65562400	Weak transcription	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links