Variant report

Variant	rs12193658
Chromosome Location	chr6:33705528-33705529
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33704352..33707039-chr6:33718768..33721610,2	MCF-7	breast:
2	chr6:33704170..33706170-chr6:33708932..33711756,3	MCF-7	breast:
3	chr6:33704170..33706056-chr6:33712043..33713593,2	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10456420	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10456421	1.00[ASN][1000 genomes]
rs10947426	0.87[AFR][1000 genomes]
rs10947432	0.81[EUR][1000 genomes]
rs10947441	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10947442	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11755817	1.00[JPT][hapmap]
rs12153870	0.87[AFR][1000 genomes]
rs12153877	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189725	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12192035	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs12192087	1.00[ASN][1000 genomes]
rs12195409	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195707	0.87[AFR][1000 genomes]
rs12198383	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199132	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12203688	0.84[EUR][1000 genomes]
rs12204620	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204992	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12205398	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12205667	0.87[AFR][1000 genomes]
rs12211490	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12211554	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12211565	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12215329	0.84[EUR][1000 genomes]
rs12660955	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12661400	0.84[EUR][1000 genomes]
rs12662447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13200063	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs13203745	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13204162	0.84[EUR][1000 genomes]
rs13206228	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13207666	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs13213889	0.85[EUR][1000 genomes]
rs13214874	0.83[EUR][1000 genomes]
rs13220421	0.87[AFR][1000 genomes]
rs2274459	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2281831	0.84[EUR][1000 genomes]
rs2296340	1.00[JPT][hapmap]
rs2296749	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34139049	0.93[EUR][1000 genomes]
rs34339105	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs34460651	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34472165	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34517899	0.87[AFR][1000 genomes]
rs34778247	1.00[ASN][1000 genomes]
rs34869648	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs34884883	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs35088242	0.87[AFR][1000 genomes]
rs35095444	0.91[ASN][1000 genomes]
rs35274562	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs35366046	0.81[EUR][1000 genomes]
rs35445446	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35646598	0.93[EUR][1000 genomes]
rs35698850	0.84[EUR][1000 genomes]
rs35721478	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs35797388	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs35964955	0.92[ASN][1000 genomes]
rs36097803	0.87[AFR][1000 genomes]
rs36122085	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3748080	1.00[JPT][hapmap]
rs3793080	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs3806107	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs3818532	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66617522	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66670017	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs68168863	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6925337	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs72880510	0.91[ASN][1000 genomes]
rs729376	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs751095	0.85[EUR][1000 genomes]
rs755239	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs877187	1.00[CEU][hapmap];0.89[AFR][1000 genomes];1.00[EUR][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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33686400-33710600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:33690800-33708200	Weak transcription	Gastric	stomach
3	chr6:33691800-33711600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr6:33692000-33706800	Weak transcription	Fetal Intestine Small	intestine
5	chr6:33692000-33710200	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:33693600-33712000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:33694000-33710600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:33695600-33711800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:33699200-33710000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:33699800-33708000	Weak transcription	Fetal Lung	lung
11	chr6:33700200-33706600	Weak transcription	Fetal Intestine Large	intestine
12	chr6:33700400-33707400	Weak transcription	Lung	lung
13	chr6:33700600-33707200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:33702000-33710000	Genic enhancers	HSMM	muscle
15	chr6:33702200-33706200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:33703400-33705800	Weak transcription	Psoas Muscle	Psoas
17	chr6:33703400-33706800	Weak transcription	Spleen	Spleen
18	chr6:33704400-33707800	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr6:33704600-33705600	Strong transcription	Placenta	Placenta
20	chr6:33704600-33705600	Enhancers	Right Atrium	heart
21	chr6:33704600-33706200	Genic enhancers	Fetal Muscle Trunk	muscle
22	chr6:33704600-33706200	Genic enhancers	Fetal Muscle Leg	muscle
23	chr6:33704600-33706200	Enhancers	Right Ventricle	heart
24	chr6:33704600-33706600	Genic enhancers	Brain Substantia Nigra	brain
25	chr6:33704800-33705800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:33704800-33706400	Enhancers	Fetal Heart	heart
27	chr6:33704800-33706800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:33704800-33707000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:33705000-33705600	Enhancers	Brain Angular Gyrus	brain
30	chr6:33705000-33705600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr6:33705000-33705800	Enhancers	Brain Cingulate Gyrus	brain
32	chr6:33705000-33706400	Enhancers	Pancreas	Pancrea
33	chr6:33705200-33705600	Enhancers	HSMMtube	muscle
34	chr6:33705200-33706200	Enhancers	Brain Hippocampus Middle	brain
35	chr6:33705200-33707200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:33705200-33709800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:33705400-33705600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr6:33705400-33705600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr6:33705400-33707000	Genic enhancers	Left Ventricle	heart
40	chr6:33705400-33708000	Weak transcription	Brain Anterior Caudate	brain
41	chr6:33705400-33709000	Enhancers	Liver	Liver
42	chr6:33705400-33712000	Weak transcription	Placenta Amnion	Placenta Amnion

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