Variant report

Variant	rs12660934
Chromosome Location	chr6:31041280-31041281
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	chr6:31027525..31029714-chr6:31040492..31042279,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs56752756	1.00[EUR][1000 genomes]
rs57616483	1.00[EUR][1000 genomes]
rs60009106	1.00[EUR][1000 genomes]
rs60150827	1.00[EUR][1000 genomes]
rs60544531	0.86[EUR][1000 genomes]
rs60823229	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60959301	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1029442	chr6:31006647-31449207	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
7	nsv884132	chr6:31014305-31057183	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv427750	chr6:31028290-31234581	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
9	nsv428140	chr6:31028290-31462106	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	89 gene(s)	inside rSNPs	diseases
10	esv2758042	chr6:31028290-31497106	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
11	esv2759414	chr6:31028290-31542308	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	151 gene(s)	inside rSNPs	diseases
12	nsv884134	chr6:31028345-31048263	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
13	nsv884135	chr6:31034264-31044522	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	nsv884136	chr6:31036783-31044522	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31022200-31050800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:31037000-31047400	Weak transcription	Right Atrium	heart
3	chr6:31038600-31042200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:31038600-31047400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:31039000-31041600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:31039000-31041800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr6:31039000-31042200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:31039000-31044600	Weak transcription	Fetal Kidney	kidney
9	chr6:31039000-31047400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:31039000-31047400	Weak transcription	Fetal Brain Male	brain
11	chr6:31039000-31047400	Weak transcription	HMEC	breast
12	chr6:31039000-31048200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:31039200-31047400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:31039200-31047400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:31039600-31041600	Enhancers	Fetal Lung	lung
16	chr6:31039800-31041600	Enhancers	Brain Germinal Matrix	brain
17	chr6:31040000-31041400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:31040000-31041600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:31040000-31041600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:31040000-31041600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr6:31040000-31041600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:31040000-31041600	Enhancers	GM12878-XiMat	blood
23	chr6:31040000-31041600	Enhancers	NHDF-Ad	bronchial
24	chr6:31040000-31041600	Enhancers	Osteobl	bone
25	chr6:31040000-31041800	Enhancers	Colon Smooth Muscle	Colon
26	chr6:31040000-31041800	Enhancers	Fetal Stomach	stomach
27	chr6:31040000-31041800	Enhancers	NHLF	lung
28	chr6:31040000-31042400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:31040200-31047400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:31040400-31047200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr6:31040400-31047400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:31040600-31041400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr6:31040600-31041400	Weak transcription	Hela-S3	cervix
34	chr6:31040600-31042600	Weak transcription	HSMMtube	muscle
35	chr6:31040600-31042800	Weak transcription	Stomach Mucosa	stomach
36	chr6:31040600-31043200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:31040600-31043200	Weak transcription	HSMM	muscle
38	chr6:31040600-31047200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr6:31040600-31047400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:31040600-31047400	Weak transcription	Esophagus	oesophagus
41	chr6:31040600-31047400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr6:31040600-31047400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr6:31040600-31047400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr6:31040600-31055000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr6:31040600-31062400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr6:31040800-31047400	Weak transcription	Brain Anterior Caudate	brain
47	chr6:31040800-31047400	Weak transcription	HUVEC	blood vessel
48	chr6:31041000-31041400	Weak transcription	NH-A	brain
49	chr6:31041000-31043400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:31041000-31047200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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