Variant report

Variant	rs12199132
Chromosome Location	chr6:33708250-33708251
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:33706317..33709748-chr6:33710509..33712632,5	MCF-7	breast:
2	chr6:33677945..33680861-chr6:33707372..33709046,3	K562	blood:
3	chr6:33706241..33709561-chr6:33709640..33714031,4	MCF-7	breast:
4	chr6:33706772..33708979-chr6:33732721..33735158,2	K562	blood:
5	chr6:33701443..33703598-chr6:33706736..33709323,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf125-2	chr6:33707072-33708768	ucscGeneNc_uc010jvd_1

No data

Variant related genes	Relation type
ENSG00000137288	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10456075	0.91[ASN][1000 genomes]
rs10456420	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10947426	0.87[AFR][1000 genomes]
rs10947432	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12153870	0.87[AFR][1000 genomes]
rs12153877	0.84[EUR][1000 genomes]
rs12189725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190155	0.85[ASN][1000 genomes]
rs12192035	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12193658	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12195409	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12195707	0.87[AFR][1000 genomes]
rs12198383	0.80[EUR][1000 genomes]
rs12203688	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12204620	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12204992	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12205398	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12205667	0.87[AFR][1000 genomes]
rs12211490	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12211554	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12211565	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12215329	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12660955	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12661400	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12662447	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13200063	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13204162	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13204975	0.85[ASN][1000 genomes]
rs13206228	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13207666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13213889	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13214874	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13220421	0.87[AFR][1000 genomes]
rs2274459	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2281831	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2281917	0.82[ASN][1000 genomes]
rs2281918	0.85[ASN][1000 genomes]
rs2281919	0.85[ASN][1000 genomes]
rs2296737	0.82[ASN][1000 genomes]
rs2296749	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34139049	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34339105	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34460651	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs34472165	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34517899	0.87[AFR][1000 genomes]
rs34869648	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34884883	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35088242	0.87[AFR][1000 genomes]
rs35274562	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35366046	0.81[EUR][1000 genomes]
rs35445446	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs35646598	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35698850	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35721478	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35797388	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36097803	0.87[AFR][1000 genomes]
rs36122085	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3793080	0.83[EUR][1000 genomes]
rs3806107	0.83[EUR][1000 genomes]
rs3818526	0.85[ASN][1000 genomes]
rs3818532	0.81[EUR][1000 genomes]
rs66617522	0.80[EUR][1000 genomes]
rs66670017	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs68168863	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6925337	0.82[EUR][1000 genomes]
rs729376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs751095	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs755239	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs877187	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296097	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
2	nsv830639	chr6:33592022-33711346	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
3	nsv885772	chr6:33638180-33767727	Bivalent Enhancer Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33686400-33710600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:33691800-33711600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr6:33692000-33710200	Weak transcription	Colon Smooth Muscle	Colon
4	chr6:33693600-33712000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:33694000-33710600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:33695600-33711800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:33699200-33710000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:33702000-33710000	Genic enhancers	HSMM	muscle
9	chr6:33705200-33709800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:33705400-33709000	Enhancers	Liver	Liver
11	chr6:33705400-33712000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:33705600-33709200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
13	chr6:33705800-33711000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:33706600-33709000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr6:33706600-33715800	Enhancers	Fetal Intestine Large	intestine
16	chr6:33706800-33709000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr6:33706800-33709000	Enhancers	Fetal Intestine Small	intestine
18	chr6:33706800-33709200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:33706800-33709200	Enhancers	Pancreas	Pancrea
20	chr6:33706800-33709200	Enhancers	Right Atrium	heart
21	chr6:33706800-33711400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:33707000-33708600	Enhancers	Left Ventricle	heart
23	chr6:33707000-33710200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:33707200-33709800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:33707200-33710000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:33707200-33711400	Enhancers	Fetal Brain Male	brain
27	chr6:33707400-33708400	Genic enhancers	Fetal Muscle Trunk	muscle
28	chr6:33707400-33708400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr6:33707400-33708600	Enhancers	Lung	lung
30	chr6:33707400-33709200	Genic enhancers	Fetal Muscle Leg	muscle
31	chr6:33707400-33714000	Weak transcription	Spleen	Spleen
32	chr6:33707600-33708600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:33707600-33708600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr6:33707600-33708600	Enhancers	Placenta	Placenta
35	chr6:33707600-33708800	Enhancers	K562	blood
36	chr6:33707600-33709000	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr6:33707600-33711000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr6:33707800-33708400	Enhancers	Primary B cells from cord blood	blood
39	chr6:33707800-33708400	Transcr. at gene 5' and 3'	Right Ventricle	heart
40	chr6:33707800-33708600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:33707800-33708600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:33707800-33708600	Enhancers	Brain Cingulate Gyrus	brain
43	chr6:33707800-33709000	Enhancers	Brain Hippocampus Middle	brain
44	chr6:33707800-33709200	Enhancers	Fetal Brain Female	brain
45	chr6:33707800-33710200	Enhancers	Brain Substantia Nigra	brain
46	chr6:33707800-33710600	Genic enhancers	Muscle Satellite Cultured Cells	--
47	chr6:33708000-33708400	Flanking Active TSS	HepG2	liver
48	chr6:33708000-33708600	Enhancers	HMEC	breast
49	chr6:33708000-33708800	Enhancers	Fetal Lung	lung
50	chr6:33708000-33709000	Enhancers	Fetal Heart	heart

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