Variant report

Variant	rs2252189
Chromosome Location	chr14:56138800-56138801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56133519..56136072-chr14:56136743..56138846,2	MCF-7	breast:
2	chr14:56135769..56139247-chr14:56140208..56143081,3	K562	blood:

Variant related genes	Relation type
ENSG00000126777	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10136408	0.86[CEU][hapmap]
rs10444721	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10483644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10483649	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10483651	0.93[ASN][1000 genomes]
rs12432344	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12432588	0.84[EUR][1000 genomes]
rs12432887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12433592	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12434609	0.90[ASN][1000 genomes]
rs12434624	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12434660	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12434799	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12435643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12587700	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12587705	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12587735	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12588172	0.85[ASN][1000 genomes]
rs12588185	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12589864	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12589867	0.86[EUR][1000 genomes]
rs12590388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12590936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12882850	0.83[JPT][hapmap]
rs12885864	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12888809	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12891129	0.93[ASN][1000 genomes]
rs12891489	0.86[CEU][hapmap]
rs12893162	0.90[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs12895070	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12895366	0.93[ASN][1000 genomes]
rs12897227	0.83[JPT][hapmap];0.93[YRI][hapmap]
rs17128610	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17128614	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17128655	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17128657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17128677	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17128684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17128690	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17253737	0.93[ASN][1000 genomes]
rs17684916	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs17684959	0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs17685650	0.93[ASN][1000 genomes]
rs1951887	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1951889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1951890	0.94[CEU][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2274076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2274078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2274079	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2296182	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs2296183	0.95[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2341889	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28458791	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28581272	0.84[ASN][1000 genomes]
rs28703642	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34023572	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34111199	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34118806	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34133022	0.93[ASN][1000 genomes]
rs34184813	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34408323	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34548095	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34697059	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34706911	0.90[ASN][1000 genomes]
rs34709110	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34853759	0.93[ASN][1000 genomes]
rs34931260	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34982220	0.92[ASN][1000 genomes]
rs35047443	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35094494	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35420484	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35451981	0.86[EUR][1000 genomes]
rs35531912	0.87[EUR][1000 genomes]
rs35535838	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35560341	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35790844	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3765515	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4457912	0.81[JPT][hapmap]
rs55760841	0.86[EUR][1000 genomes]
rs55927221	0.92[ASN][1000 genomes]
rs56229542	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60233569	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61381603	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6573053	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6573054	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7150285	0.95[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs7156566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7158176	0.93[ASN][1000 genomes]
rs8003149	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8006443	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8015588	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv1792376	chr14:56108007-56150151	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1283	chr14:56120059-56164729	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56078600-56148600	Weak transcription	Stomach Mucosa	stomach
2	chr14:56087600-56145200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:56088400-56153200	Weak transcription	Gastric	stomach
4	chr14:56095000-56142200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:56097600-56145200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:56097600-56155400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:56101800-56162800	Weak transcription	Brain Germinal Matrix	brain
8	chr14:56102400-56145200	Weak transcription	Lung	lung
9	chr14:56102400-56185400	Weak transcription	Right Ventricle	heart
10	chr14:56104800-56157400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:56106000-56150200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:56109200-56141800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:56109200-56164000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr14:56109800-56139600	Weak transcription	Colonic Mucosa	Colon
15	chr14:56109800-56145400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr14:56113800-56155000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:56115000-56155000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr14:56119200-56139200	Weak transcription	K562	blood
19	chr14:56120000-56139200	Weak transcription	Brain Angular Gyrus	brain
20	chr14:56122000-56145400	Weak transcription	Pancreas	Pancrea
21	chr14:56122400-56145000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:56122400-56145400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:56122400-56152600	Weak transcription	Esophagus	oesophagus
24	chr14:56122400-56164800	Weak transcription	Small Intestine	intestine
25	chr14:56124000-56142200	Weak transcription	Fetal Kidney	kidney
26	chr14:56125000-56144600	Weak transcription	Fetal Muscle Leg	muscle
27	chr14:56128200-56145200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr14:56128200-56149800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr14:56129200-56143800	Weak transcription	Fetal Intestine Small	intestine
30	chr14:56129200-56144600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:56129200-56145200	Weak transcription	Fetal Stomach	stomach
32	chr14:56129800-56145000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr14:56129800-56145200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr14:56129800-56145200	Weak transcription	Spleen	Spleen
35	chr14:56129800-56152000	Weak transcription	Aorta	Aorta
36	chr14:56130400-56145200	Weak transcription	Ovary	ovary
37	chr14:56131400-56145200	Weak transcription	Fetal Brain Male	brain
38	chr14:56131400-56145200	Weak transcription	Thymus	Thymus
39	chr14:56133000-56145200	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr14:56133400-56144000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:56133400-56145200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:56133400-56153400	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr14:56134000-56143600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:56134000-56155000	Strong transcription	HSMM	muscle
45	chr14:56134200-56153600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr14:56134600-56154200	Strong transcription	Liver	Liver
47	chr14:56134800-56145000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr14:56134800-56148200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr14:56135000-56153400	Strong transcription	Placenta	Placenta
50	chr14:56135200-56152800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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