Variant report

Variant	rs10447422
Chromosome Location	chr6:144907284-144907285
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144901193..144904643-chr6:144905764..144908311,3	K562	blood:
2	chr6:144906028..144907293-chr6:145349130..145350022,4	MCF-7	breast:
3	chr6:144906202..144908261-chr6:145458578..145460342,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152818	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10080939	0.93[EUR][1000 genomes]
rs10457761	0.85[CHB][hapmap]
rs10457764	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10499230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11155359	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11155367	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11155369	0.85[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11756963	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12190718	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12192622	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]
rs12196553	0.89[LWK][hapmap];0.85[YRI][hapmap]
rs12198720	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs12200263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12202537	0.86[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap]
rs12202539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12204734	0.86[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12205460	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12209699	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12209889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17073869	0.89[EUR][1000 genomes]
rs17793570	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918749	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28588721	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34810766	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4259269	0.92[CEU][hapmap];0.95[GIH][hapmap]
rs4460225	0.89[EUR][1000 genomes]
rs4584002	0.90[GIH][hapmap]
rs4615409	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4896724	0.90[GIH][hapmap]
rs56264877	0.89[EUR][1000 genomes]
rs60530618	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6570634	0.85[CHB][hapmap];0.93[GIH][hapmap]
rs6908911	0.90[GIH][hapmap]
rs6912724	0.85[CHB][hapmap];0.90[GIH][hapmap]
rs6917268	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6917519	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6923281	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6942069	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73600166	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73600170	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73603015	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7773603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9321976	0.85[CHB][hapmap]
rs9321977	0.95[GIH][hapmap]
rs9496982	0.93[GIH][hapmap]
rs9497026	0.92[CEU][hapmap];1.00[CHB][hapmap];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:90 , 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	chr6:144904200-144907400	Active TSS	Brain Anterior Caudate	brain
13	chr6:144904400-144931600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:144904400-144931800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:144904600-144910400	Weak transcription	Right Ventricle	heart
16	chr6:144904600-144913000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:144904600-144913600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:144904600-144913800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr6:144904600-144914400	Weak transcription	HSMM	muscle
20	chr6:144904600-144915800	Weak transcription	Psoas Muscle	Psoas
21	chr6:144904600-144915800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr6:144904600-144916400	Weak transcription	Fetal Stomach	stomach
23	chr6:144904600-144921600	Weak transcription	Fetal Muscle Leg	muscle
24	chr6:144904600-144923600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:144904600-144939800	Weak transcription	HSMMtube	muscle
26	chr6:144904800-144908200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr6:144904800-144908400	Weak transcription	Fetal Intestine Large	intestine
28	chr6:144904800-144908800	Weak transcription	HepG2	liver
29	chr6:144904800-144909000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:144904800-144911000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:144904800-144913400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:144904800-144914200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:144904800-144914200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:144904800-144914200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr6:144904800-144914600	Weak transcription	Spleen	Spleen
36	chr6:144904800-144915800	Weak transcription	NH-A	brain
37	chr6:144904800-144921200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:144904800-144929000	Weak transcription	Left Ventricle	heart
39	chr6:144904800-144935400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:144905000-144907800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr6:144905000-144908000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr6:144905000-144908600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr6:144905000-144908600	Weak transcription	Adipose Nuclei	Adipose
44	chr6:144905000-144908800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:144905000-144909000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr6:144905000-144909800	Weak transcription	Fetal Kidney	kidney
47	chr6:144905200-144912200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:144905400-144907600	Flanking Active TSS	Dnd41	blood
49	chr6:144905400-144908400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr6:144905400-144923200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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