Variant report

Variant	rs12192035
Chromosome Location	chr6:33720065-33720066
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33716339..33718019-chr6:33719542..33721066,2	K562	blood:
2	chr6:33693249..33695267-chr6:33719623..33721316,2	K562	blood:
3	chr6:33717351..33720634-chr6:33722895..33725009,3	K562	blood:
4	chr6:33704352..33707039-chr6:33718768..33721610,2	MCF-7	breast:
5	chr6:33711960..33715900-chr6:33717224..33721956,7	MCF-7	breast:
6	chr6:33717929..33721430-chr6:33728075..33731260,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000161896	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10456420	0.94[EUR][1000 genomes]
rs10456421	0.88[EUR][1000 genomes]
rs12153877	0.92[EUR][1000 genomes]
rs12189725	0.89[CEU][hapmap];0.85[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12192087	0.86[EUR][1000 genomes]
rs12193658	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs12195409	0.94[EUR][1000 genomes]
rs12198383	0.81[CEU][hapmap];0.89[EUR][1000 genomes]
rs12199132	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12203688	0.85[ASN][1000 genomes]
rs12204620	0.94[EUR][1000 genomes]
rs12204992	0.94[EUR][1000 genomes]
rs12205398	0.85[ASN][1000 genomes]
rs12211490	0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12211554	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12211565	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12215329	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12660955	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12661400	0.85[ASN][1000 genomes]
rs12662447	0.89[EUR][1000 genomes]
rs13200063	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13204162	0.85[ASN][1000 genomes]
rs13206228	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13207666	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13213889	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2274459	0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2281831	0.85[ASN][1000 genomes]
rs2296749	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34139049	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34339105	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34460651	0.95[EUR][1000 genomes]
rs34472165	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34869648	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34884883	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35274562	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35328423	0.87[EUR][1000 genomes]
rs35366046	0.88[EUR][1000 genomes]
rs35445446	0.96[EUR][1000 genomes]
rs35646598	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35698850	0.85[ASN][1000 genomes]
rs35721478	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35797388	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36122085	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3793080	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs3806107	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs66617522	0.89[EUR][1000 genomes]
rs66670017	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68168863	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6925337	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs729376	0.88[CEU][hapmap];0.85[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs751095	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs755239	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs877187	0.89[CEU][hapmap];0.85[JPT][hapmap];0.89[EUR][1000 genomes];0.88[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	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
2	nsv462897	chr6:33717770-33778964	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv602839	chr6:33717770-33778964	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33714800-33720600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:33714800-33721000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:33714800-33722600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr6:33715000-33720600	Enhancers	Fetal Muscle Leg	muscle
5	chr6:33715200-33737800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:33715600-33729400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:33716200-33720400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:33716400-33720600	Enhancers	Placenta	Placenta
9	chr6:33716600-33720600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr6:33717000-33723000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr6:33717600-33720400	Enhancers	HSMMtube	muscle
12	chr6:33718000-33720200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:33718000-33720200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:33718000-33721000	Enhancers	Stomach Mucosa	stomach
15	chr6:33718200-33720200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:33718200-33720600	Enhancers	Fetal Intestine Large	intestine
17	chr6:33718200-33720800	Enhancers	Fetal Lung	lung
18	chr6:33718400-33720400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:33718400-33720400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr6:33718400-33720600	Enhancers	Esophagus	oesophagus
21	chr6:33718400-33721000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:33718400-33721200	Enhancers	Fetal Thymus	thymus
23	chr6:33718400-33721400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr6:33718600-33720200	Enhancers	Spleen	Spleen
25	chr6:33718600-33720600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:33718600-33720600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:33718600-33720800	Enhancers	HMEC	breast
28	chr6:33718600-33721000	Enhancers	Colonic Mucosa	Colon
29	chr6:33718600-33721000	Enhancers	Fetal Intestine Small	intestine
30	chr6:33718800-33720600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:33718800-33721000	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr6:33719000-33720200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr6:33719000-33720400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr6:33719000-33720600	Bivalent Enhancer	HepG2	liver
35	chr6:33719200-33720200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:33719200-33720200	Enhancers	HSMM	muscle
37	chr6:33719200-33720400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr6:33719200-33721400	Enhancers	Pancreas	Pancrea
39	chr6:33719200-33723600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr6:33719400-33720200	Enhancers	Left Ventricle	heart
41	chr6:33719400-33720400	Enhancers	Psoas Muscle	Psoas
42	chr6:33719400-33720800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:33719400-33722200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:33719600-33720200	Enhancers	Gastric	stomach
45	chr6:33719600-33720600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:33719600-33720600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:33719600-33720600	Enhancers	NHEK	skin
48	chr6:33719600-33729000	Weak transcription	Right Atrium	heart
49	chr6:33719800-33720600	Enhancers	GM12878-XiMat	blood
50	chr6:33719800-33727600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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