Variant report

Variant	rs12501667
Chromosome Location	chr4:151055834-151055835
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:151053345..151055043-chr4:151055104..151056849,2	K562	blood:
2	chr4:151053147..151055043-chr4:151055083..151056849,2	K562	blood:
3	chr4:150972491..150974664-chr4:151054039..151056364,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12498375	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4260524	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4260525	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4274824	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4274825	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4557242	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4622980	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56080313	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56382032	0.82[ASN][1000 genomes]
rs56896627	0.84[ASN][1000 genomes]
rs62338174	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62338175	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62338176	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62338177	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62338178	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62338180	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62338181	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62338183	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62339889	0.87[ASN][1000 genomes]
rs62339915	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72965546	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7438351	0.84[ASN][1000 genomes]
rs7667241	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7667342	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7688261	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695751	1.00[CHB][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][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	nsv1026797	chr4:150246932-151217137	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151038800-151070000	Weak transcription	Ovary	ovary
2	chr4:151045200-151099000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:151047400-151058200	Weak transcription	Left Ventricle	heart
4	chr4:151048400-151057000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:151049200-151057800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:151049200-151074000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:151050200-151056800	Weak transcription	HSMM	muscle
8	chr4:151050400-151056000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:151051800-151062600	Weak transcription	Fetal Heart	heart
10	chr4:151052000-151056600	Weak transcription	Brain Substantia Nigra	brain
11	chr4:151053200-151056000	Weak transcription	Osteobl	bone
12	chr4:151053200-151062000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:151053400-151056000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr4:151053400-151056000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr4:151053400-151056200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:151053400-151056200	Weak transcription	NH-A	brain
17	chr4:151053400-151056400	Weak transcription	Brain Anterior Caudate	brain
18	chr4:151053400-151056400	Weak transcription	NHLF	lung
19	chr4:151053400-151056600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:151053400-151057000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:151053600-151056200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:151053600-151058200	Weak transcription	Brain Germinal Matrix	brain
23	chr4:151053800-151057200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:151053800-151060400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:151054200-151060400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:151054600-151056600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:151054600-151057600	Enhancers	A549	lung
28	chr4:151055000-151056600	Weak transcription	NHDF-Ad	bronchial
29	chr4:151055000-151060400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:151055600-151058600	Weak transcription	Fetal Brain Female	brain

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