Variant report

Variant	rs12192622
Chromosome Location	chr6:144910903-144910904
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10080939	0.94[EUR][1000 genomes]
rs10447422	0.85[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10457764	0.85[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10499230	0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11155359	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11155367	1.00[JPT][hapmap]
rs11155369	1.00[JPT][hapmap]
rs11756963	1.00[JPT][hapmap]
rs12190718	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12198720	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12200263	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12202539	1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12204734	1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12205460	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12209699	0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12209889	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17073869	0.90[EUR][1000 genomes]
rs17793570	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918749	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28588721	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34810766	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4460225	0.90[EUR][1000 genomes]
rs4615409	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56264877	0.90[EUR][1000 genomes]
rs60530618	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6917268	1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6917519	1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6923281	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6942069	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73600166	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73600170	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73603015	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7773603	1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9497026	1.00[JPT][hapmap];0.83[ASN][1000 genomes]

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:82 , 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	chr6:144899600-144913800	Weak transcription	Lung	lung
5	chr6:144899600-144931800	Weak transcription	Esophagus	oesophagus
6	chr6:144899800-144914400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:144899800-144914400	Weak transcription	Fetal Intestine Small	intestine
8	chr6:144899800-144917400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr6:144900000-144915400	Weak transcription	Pancreas	Pancrea
10	chr6:144904400-144931600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:144904400-144931800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:144904600-144913000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:144904600-144913600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:144904600-144913800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:144904600-144914400	Weak transcription	HSMM	muscle
16	chr6:144904600-144915800	Weak transcription	Psoas Muscle	Psoas
17	chr6:144904600-144915800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr6:144904600-144916400	Weak transcription	Fetal Stomach	stomach
19	chr6:144904600-144921600	Weak transcription	Fetal Muscle Leg	muscle
20	chr6:144904600-144923600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:144904600-144939800	Weak transcription	HSMMtube	muscle
22	chr6:144904800-144911000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr6:144904800-144913400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:144904800-144914200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:144904800-144914200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:144904800-144914200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr6:144904800-144914600	Weak transcription	Spleen	Spleen
28	chr6:144904800-144915800	Weak transcription	NH-A	brain
29	chr6:144904800-144921200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:144904800-144929000	Weak transcription	Left Ventricle	heart
31	chr6:144904800-144935400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:144905200-144912200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:144905400-144923200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:144905400-144923400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr6:144905800-144911200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr6:144905800-144913000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:144905800-144915400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr6:144905800-144922200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:144906400-144911600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:144906400-144913600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:144906400-144918600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr6:144906400-144922800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:144906800-144914800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:144907400-144914600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr6:144907400-144914600	Weak transcription	Fetal Lung	lung
46	chr6:144907600-144914000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:144907600-144914400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:144908200-144913600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:144908400-144912600	Strong transcription	Primary hematopoietic stem cells	blood
50	chr6:144908400-144914000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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