Variant report

Variant	rs12196553
Chromosome Location	chr6:144906067-144906068
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144905902..144906972-chr6:145534873..145536365,4	K562	blood:
2	chr6:144901193..144904643-chr6:144905764..144908311,3	K562	blood:
3	chr6:144906028..144907293-chr6:145349130..145350022,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152818	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1005974	0.82[JPT][hapmap]
rs10447422	0.89[LWK][hapmap];0.85[YRI][hapmap]
rs12195433	0.90[EUR][1000 genomes]
rs12205822	0.98[GIH][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.89[EUR][1000 genomes]
rs17793810	0.82[JPT][hapmap]
rs3811099	0.82[JPT][hapmap]
rs4146297	0.82[JPT][hapmap]
rs6915747	0.81[TSI][hapmap]
rs6941915	0.92[EUR][1000 genomes]
rs7739143	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs7742445	0.83[JPT][hapmap]
rs9390173	0.81[ASW][hapmap]
rs9390183	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144881800-144937800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:144885800-144943400	Weak transcription	Ovary	ovary
3	chr6:144898600-144912800	Weak transcription	Gastric	stomach
4	chr6:144899600-144909000	Weak transcription	Aorta	Aorta
5	chr6:144899600-144913800	Weak transcription	Lung	lung
6	chr6:144899600-144931800	Weak transcription	Esophagus	oesophagus
7	chr6:144899800-144914400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:144899800-144914400	Weak transcription	Fetal Intestine Small	intestine
9	chr6:144899800-144917400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:144900000-144915400	Weak transcription	Pancreas	Pancrea
11	chr6:144902400-144908400	Weak transcription	HUVEC	blood vessel
12	chr6:144904200-144906400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr6:144904200-144906800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:144904200-144907400	Active TSS	Brain Anterior Caudate	brain
15	chr6:144904400-144906400	Active TSS	Stomach Smooth Muscle	stomach
16	chr6:144904400-144907000	Active TSS	Fetal Thymus	thymus
17	chr6:144904400-144931600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:144904400-144931800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:144904600-144906400	Active TSS	K562	blood
20	chr6:144904600-144910400	Weak transcription	Right Ventricle	heart
21	chr6:144904600-144913000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:144904600-144913600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:144904600-144913800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr6:144904600-144914400	Weak transcription	HSMM	muscle
25	chr6:144904600-144915800	Weak transcription	Psoas Muscle	Psoas
26	chr6:144904600-144915800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr6:144904600-144916400	Weak transcription	Fetal Stomach	stomach
28	chr6:144904600-144921600	Weak transcription	Fetal Muscle Leg	muscle
29	chr6:144904600-144923600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr6:144904600-144939800	Weak transcription	HSMMtube	muscle
31	chr6:144904800-144906200	Weak transcription	Liver	Liver
32	chr6:144904800-144906400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:144904800-144906600	Weak transcription	Colon Smooth Muscle	Colon
34	chr6:144904800-144906600	Weak transcription	Fetal Brain Male	brain
35	chr6:144904800-144906800	Weak transcription	Fetal Lung	lung
36	chr6:144904800-144907200	Weak transcription	Fetal Heart	heart
37	chr6:144904800-144908200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr6:144904800-144908400	Weak transcription	Fetal Intestine Large	intestine
39	chr6:144904800-144908800	Weak transcription	HepG2	liver
40	chr6:144904800-144909000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:144904800-144911000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:144904800-144913400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:144904800-144914200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:144904800-144914200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:144904800-144914200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr6:144904800-144914600	Weak transcription	Spleen	Spleen
47	chr6:144904800-144915800	Weak transcription	NH-A	brain
48	chr6:144904800-144921200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:144904800-144929000	Weak transcription	Left Ventricle	heart
50	chr6:144904800-144935400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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