Variant report

Variant	rs61279777
Chromosome Location	chr12:76100239-76100240
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:76098673..76101455-chr12:76339304..76341951,2	MCF-7	breast:
2	chr12:76100050..76100750-chr14:90910076..90910761,2	MCF-7	breast:
3	chr12:76098446..76100265-chr12:76101330..76104359,3	K562	blood:
4	chr12:76098278..76100434-chr12:76382511..76385380,3	MCF-7	breast:
5	chr12:75919171..75922679-chr12:76098756..76100488,3	MCF-7	breast:
6	chr12:76099926..76101874-chr12:76365799..76367689,2	MCF-7	breast:
7	chr12:76098571..76100662-chr12:76382454..76384688,2	MCF-7	breast:
8	chr12:76099898..76100434-chr12:76424775..76425728,2	MCF-7	breast:
9	chr12:76092093..76110851-chr12:76415034..76433496,122	MCF-7	breast:
10	chr12:76023357..76025100-chr12:76099295..76101249,2	MCF-7	breast:
11	chr12:75265120..75266338-chr12:76099631..76100568,3	MCF-7	breast:
12	chr12:76099220..76100944-chr12:76739445..76741568,2	MCF-7	breast:
13	chr12:76098446..76100870-chr12:76101330..76106018,5	K562	blood:
14	chr12:76015734..76021626-chr12:76097256..76101818,9	MCF-7	breast:
15	chr12:76096760..76101934-chr12:76112737..76117926,8	MCF-7	breast:
16	chr12:76098481..76102086-chr12:76423023..76426874,6	MCF-7	breast:
17	chr12:76097832..76100387-chr8:102502894..102505190,2	MCF-7	breast:
18	chr12:76097180..76098838-chr12:76099370..76102152,2	MCF-7	breast:
19	chr12:76032329..76032994-chr12:76099843..76100643,3	MCF-7	breast:
20	chr10:98892925..98893445-chr12:76099683..76100486,2	HCT-116	colon:
21	chr12:76091616..76093150-chr12:76098574..76100894,2	MCF-7	breast:
22	chr12:76098531..76101496-chr12:76371674..76373378,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257839	Chromatin interaction
ENSG00000257453	Chromatin interaction
ENSG00000254024	Chromatin interaction
ENSG00000139289	Chromatin interaction
ENSG00000258088	Chromatin interaction
ENSG00000083307	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17115491	0.85[AFR][1000 genomes]
rs58434374	1.00[AMR][1000 genomes]
rs59665018	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6582295	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363650	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363654	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363656	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363659	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363669	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363672	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363673	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363680	1.00[AFR][1000 genomes]
rs73363684	1.00[AMR][1000 genomes]
rs73363685	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363692	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363694	1.00[AMR][1000 genomes]
rs73363698	1.00[AMR][1000 genomes]
rs73363701	1.00[AMR][1000 genomes]
rs73365803	1.00[AMR][1000 genomes]
rs74109621	1.00[AMR][1000 genomes]
rs74109628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112478	0.87[AFR][1000 genomes];1.00[AMR][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	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv899314	chr12:76079814-76110751	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76088800-76100600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:76089000-76100600	Weak transcription	HMEC	breast
3	chr12:76089600-76100400	Weak transcription	NHEK	skin
4	chr12:76096000-76100600	Weak transcription	Left Ventricle	heart
5	chr12:76097000-76101000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr12:76097200-76100400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr12:76097800-76101000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:76098000-76100400	Enhancers	Fetal Heart	heart
9	chr12:76098000-76100800	Enhancers	Fetal Kidney	kidney
10	chr12:76098200-76101000	Enhancers	Fetal Stomach	stomach
11	chr12:76098200-76104000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr12:76098400-76104600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:76098400-76105200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr12:76098600-76100400	Enhancers	NHDF-Ad	bronchial
15	chr12:76098600-76101000	Enhancers	HSMM	muscle
16	chr12:76098600-76101800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:76098800-76104600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:76098800-76105000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:76098800-76114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:76098800-76114400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:76099200-76101000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:76099200-76101800	Enhancers	NHLF	lung
23	chr12:76099200-76102200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:76099400-76100400	Enhancers	H9 Cell Line	embryonic stem cell
25	chr12:76099400-76100400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:76099400-76100600	Enhancers	Stomach Smooth Muscle	stomach
27	chr12:76099400-76100800	Enhancers	Colon Smooth Muscle	Colon
28	chr12:76099400-76100800	Enhancers	Rectal Smooth Muscle	rectum
29	chr12:76099400-76100800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr12:76099400-76101000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr12:76099400-76101000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:76099400-76101000	Enhancers	Fetal Lung	lung
33	chr12:76099400-76101000	Enhancers	Placenta Amnion	Placenta Amnion
34	chr12:76099400-76101000	Enhancers	HSMMtube	muscle
35	chr12:76099400-76101000	Enhancers	NH-A	brain
36	chr12:76099400-76101400	Enhancers	Fetal Muscle Leg	muscle
37	chr12:76099600-76100400	Enhancers	Ovary	ovary
38	chr12:76099600-76100400	Flanking Active TSS	A549	lung
39	chr12:76099600-76100600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr12:76099600-76100800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:76099600-76100800	Flanking Active TSS	HUVEC	blood vessel
42	chr12:76099600-76101000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:76099600-76101000	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr12:76099600-76101600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr12:76099600-76110800	Enhancers	HepG2	liver
46	chr12:76099800-76100400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:76099800-76100400	Enhancers	Primary hematopoietic stem cells	blood
48	chr12:76099800-76100400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:76099800-76100400	Enhancers	Brain Angular Gyrus	brain
50	chr12:76099800-76100400	Flanking Active TSS	Hela-S3	cervix

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