Variant report

Variant	rs7135314
Chromosome Location	chr12:124478566-124478567
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr12:124478553-124478647	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:124469541..124471956-chr12:124474758..124478951,5	K562	blood:
2	chr12:124476672..124479275-chr12:124482107..124484649,2	MCF-7	breast:
3	chr12:124457163..124461079-chr12:124477207..124479204,3	MCF-7	breast:
4	chr12:124467883..124469775-chr12:124477187..124479710,2	MCF-7	breast:
5	chr12:124476601..124479063-chr12:124485956..124487625,2	K562	blood:

No data

Variant related genes	Relation type
ZNF664	TF binding region
ENSG00000179195	Chromatin interaction
ENSG00000178882	Chromatin interaction
ENSG00000119242	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1054852	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10773048	0.88[CHB][hapmap]
rs10846579	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs10846580	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11057393	0.91[EUR][1000 genomes]
rs11057394	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs11057396	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11057397	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11057399	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11057400	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11057401	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11057407	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11057408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057412	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057413	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831913	0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11833002	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11835839	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11837287	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.81[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1187415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296259	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12298484	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12301673	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12303671	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303933	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310367	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311114	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12311848	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316080	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12317176	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs12809125	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs12809473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12823740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12824567	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12829951	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12833624	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882491	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2130382	0.92[CEU][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2178663	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3186071	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34102591	0.98[ASN][1000 genomes]
rs34114498	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34180676	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34854841	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34878139	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35099862	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35825716	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3789967	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3802999	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4405410	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4575361	0.86[EUR][1000 genomes]
rs4765127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4765148	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765219	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4765305	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4765335	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4765528	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765541	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765562	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765568	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4930721	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs4930722	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4930723	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4930724	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs4930725	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4930726	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes]
rs55990776	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56041971	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488912	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6488913	1.00[CEU][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6488914	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7131882	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7132655	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7133378	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs7134121	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71458830	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301953	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs7305864	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7307053	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311233	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312404	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7955815	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7958691	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7961449	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7966192	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7973683	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7975482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952632	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9863	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs9971695	1.00[CEU][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3493374	chr12:124458433-124496012	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3493363	chr12:124458497-124495976	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3493385	chr12:124458565-124495928	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv1818097	chr12:124465667-124488972	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7135314	RP11-380L11.4	cis	Esophagus Muscularis	GTEx
rs7135314	CCDC92	cis	Heart Left Ventricle	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124460400-124479800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:124461200-124496800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:124469000-124483000	Weak transcription	Ovary	ovary
4	chr12:124469000-124492600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:124469400-124479600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:124470000-124478800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:124470800-124490200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:124471000-124478600	Strong transcription	Primary T cells from cord blood	blood
9	chr12:124471600-124478600	Strong transcription	Dnd41	blood
10	chr12:124471800-124480400	Weak transcription	Fetal Brain Male	brain
11	chr12:124472200-124478800	Strong transcription	Primary B cells from peripheral blood	blood
12	chr12:124472600-124478600	Strong transcription	Fetal Brain Female	brain
13	chr12:124472600-124478600	Strong transcription	Thymus	Thymus
14	chr12:124473800-124478600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:124474000-124479800	Weak transcription	Esophagus	oesophagus
16	chr12:124474200-124480400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:124474400-124478600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:124474400-124480200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:124474400-124490400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:124474600-124479400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:124474600-124484800	Weak transcription	Fetal Kidney	kidney
22	chr12:124474800-124478600	Genic enhancers	Left Ventricle	heart
23	chr12:124474800-124481200	Enhancers	HMEC	breast
24	chr12:124475200-124478600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:124475200-124480400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:124475400-124478600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr12:124475400-124479400	Weak transcription	HSMMtube	muscle
28	chr12:124475400-124480000	Strong transcription	Fetal Muscle Leg	muscle
29	chr12:124475400-124481200	Strong transcription	Placenta	Placenta
30	chr12:124475400-124488600	Weak transcription	Psoas Muscle	Psoas
31	chr12:124475600-124478600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:124475600-124478600	Genic enhancers	Duodenum Mucosa	Duodenum
33	chr12:124475600-124478600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:124475600-124480200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:124475600-124480800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:124475600-124480800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:124475600-124483600	Weak transcription	Colonic Mucosa	Colon
38	chr12:124475600-124485800	Strong transcription	Primary B cells from cord blood	blood
39	chr12:124475800-124479600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr12:124476000-124478800	Enhancers	Small Intestine	intestine
41	chr12:124476000-124480600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:124476000-124481800	Weak transcription	Spleen	Spleen
43	chr12:124476200-124479400	Weak transcription	Brain Anterior Caudate	brain
44	chr12:124476200-124492400	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr12:124476400-124479800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr12:124476400-124480000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:124476400-124480000	Weak transcription	HUVEC	blood vessel
48	chr12:124476400-124481800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr12:124476600-124479400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr12:124476800-124482200	Genic enhancers	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links