Variant report

Variant	rs12429137
Chromosome Location	chr13:48584137-48584138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:48582197..48584470-chr13:48587101..48588895,3	K562	blood:
2	chr13:48574374..48577115-chr13:48582197..48584220,3	MCF-7	breast:
3	chr13:48583367..48584413-chr13:48668902..48669878,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227848	Chromatin interaction
ENSG00000136143	Chromatin interaction
ENSG00000136146	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs11618397	1.00[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs11839719	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12428259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12430773	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12431098	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12431108	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12583188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1326135	0.84[ASN][1000 genomes]
rs1326136	1.00[CHB][hapmap]
rs1326140	1.00[CHB][hapmap]
rs1359615	0.83[EUR][1000 genomes]
rs1536301	1.00[CHB][hapmap]
rs17071168	0.93[CHB][hapmap]
rs1886445	0.83[EUR][1000 genomes]
rs1926089	0.80[ASN][1000 genomes]
rs2148243	0.82[ASN][1000 genomes]
rs2148245	0.80[ASN][1000 genomes]
rs2182376	0.85[ASN][1000 genomes]
rs2296574	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs2406697	0.85[ASN][1000 genomes]
rs2406698	0.81[ASN][1000 genomes]
rs35535367	0.81[AFR][1000 genomes]
rs4447314	0.85[ASN][1000 genomes]
rs4941619	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4941625	1.00[CEU][hapmap]
rs4942725	0.80[ASN][1000 genomes]
rs4942727	1.00[CHB][hapmap]
rs4942729	0.82[ASN][1000 genomes]
rs4942733	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4942735	0.84[ASN][1000 genomes]
rs6561417	0.80[ASN][1000 genomes]
rs6561419	0.82[ASN][1000 genomes]
rs6561420	0.82[ASN][1000 genomes]
rs6561424	0.84[ASN][1000 genomes]
rs6561427	0.83[ASN][1000 genomes]
rs6561429	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6561430	0.84[ASN][1000 genomes]
rs6561431	0.83[ASN][1000 genomes]
rs6561432	0.83[ASN][1000 genomes]
rs718010	0.80[ASN][1000 genomes]
rs7318770	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs7320366	0.92[CHB][hapmap];0.80[ASN][1000 genomes]
rs7320461	0.80[ASN][1000 genomes]
rs7320759	0.80[ASN][1000 genomes]
rs7321707	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7322515	0.82[ASN][1000 genomes]
rs7325437	0.83[ASN][1000 genomes]
rs7326984	0.82[ASN][1000 genomes]
rs7327265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7327730	0.85[ASN][1000 genomes]
rs7329419	0.82[ASN][1000 genomes]
rs7330130	0.83[ASN][1000 genomes]
rs7330913	0.80[ASN][1000 genomes]
rs7331285	0.83[ASN][1000 genomes]
rs7332304	0.83[ASN][1000 genomes]
rs7333659	0.81[ASN][1000 genomes]
rs7333821	0.80[ASN][1000 genomes]
rs7334207	0.80[ASN][1000 genomes]
rs7335788	0.80[ASN][1000 genomes]
rs7337004	0.83[ASN][1000 genomes]
rs7337744	0.84[ASN][1000 genomes]
rs7338125	1.00[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs7338373	0.83[ASN][1000 genomes]
rs73477042	0.81[AFR][1000 genomes]
rs73477056	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73477058	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73487297	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73489242	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73493339	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73493351	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73495307	0.99[ASN][1000 genomes]
rs73495326	0.99[ASN][1000 genomes]
rs765809	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs7982426	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7989231	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs7990505	0.82[ASN][1000 genomes]
rs7991049	1.00[CEU][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7992167	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7996580	0.86[CHB][hapmap]
rs7997802	0.93[CHB][hapmap]
rs7998116	1.00[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs7998998	0.85[ASN][1000 genomes]
rs7999360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9316339	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs9316344	0.85[ASN][1000 genomes]
rs9526423	0.80[ASN][1000 genomes]
rs9526429	1.00[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs9526430	0.85[ASN][1000 genomes]
rs9526434	0.83[ASN][1000 genomes]
rs9534877	1.00[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs9534878	1.00[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs9534879	0.80[ASN][1000 genomes]
rs9534880	0.80[ASN][1000 genomes]
rs9534881	1.00[CHB][hapmap]
rs9534885	0.80[ASN][1000 genomes]
rs9534889	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs9534892	0.83[ASN][1000 genomes]
rs9534898	0.84[ASN][1000 genomes]
rs9534901	0.84[ASN][1000 genomes]
rs9534904	1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs9534905	1.00[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs9534906	1.00[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs9534908	0.85[ASN][1000 genomes]
rs9534909	0.83[ASN][1000 genomes]
rs9534912	0.85[ASN][1000 genomes]
rs9534914	1.00[ASN][1000 genomes]
rs9534922	0.82[ASN][1000 genomes]
rs9534926	0.85[ASN][1000 genomes]
rs9534929	1.00[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs9562787	0.80[ASN][1000 genomes]
rs9567958	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs9567959	0.80[ASN][1000 genomes]
rs9567960	1.00[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs9567963	0.80[ASN][1000 genomes]
rs9567972	0.84[ASN][1000 genomes]
rs9567976	0.85[ASN][1000 genomes]
rs9567980	0.81[JPT][hapmap]
rs9567986	0.86[CHB][hapmap]
rs9595815	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs9595825	1.00[CHB][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48576000-48587000	Weak transcription	Primary B cells from cord blood	blood
2	chr13:48576000-48587000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr13:48576000-48588400	Weak transcription	Fetal Intestine Large	intestine
4	chr13:48576000-48589800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr13:48576000-48590800	Weak transcription	Gastric	stomach
6	chr13:48576000-48603600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr13:48576000-48604000	Weak transcription	Primary T cells from cord blood	blood
8	chr13:48576000-48604800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr13:48576000-48604800	Weak transcription	Fetal Stomach	stomach
10	chr13:48576000-48604800	Weak transcription	Thymus	Thymus
11	chr13:48576000-48610800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr13:48576000-48611400	Weak transcription	Left Ventricle	heart
13	chr13:48576200-48592000	Weak transcription	Fetal Intestine Small	intestine
14	chr13:48576400-48589000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr13:48576400-48605000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr13:48576600-48604800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr13:48576600-48604800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr13:48576600-48604800	Weak transcription	Dnd41	blood
19	chr13:48576600-48610200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr13:48582000-48584400	Enhancers	NHEK	skin
21	chr13:48582400-48584400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:48582400-48584400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr13:48582400-48584400	Enhancers	Hela-S3	cervix
24	chr13:48582400-48584400	Enhancers	HMEC	breast
25	chr13:48582800-48584200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:48582800-48584200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr13:48582800-48584200	Enhancers	A549	lung
28	chr13:48582800-48584200	Enhancers	NHDF-Ad	bronchial
29	chr13:48582800-48584400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr13:48583200-48584200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr13:48583200-48584400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr13:48583200-48584400	Enhancers	H9 Cell Line	embryonic stem cell
33	chr13:48583400-48584400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr13:48583400-48592800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr13:48583600-48584200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr13:48583600-48584200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr13:48583600-48584200	Enhancers	HSMMtube	muscle
38	chr13:48583600-48584400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr13:48583600-48585000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr13:48583800-48584200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr13:48583800-48584200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr13:48583800-48584400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr13:48583800-48585800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr13:48583800-48604600	Weak transcription	Liver	Liver
45	chr13:48584000-48584600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr13:48584000-48585600	Weak transcription	Stomach Mucosa	stomach
47	chr13:48584000-48587000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr13:48584000-48588400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr13:48584000-48604600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr13:48584000-48610800	Weak transcription	Rectal Mucosa Donor 31	rectum

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