Variant report

Variant	rs821443
Chromosome Location	chr6:11538534-11538535
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:47291454..47293291-chr6:11538059..11540323,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105281	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs11751931	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16871371	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17607537	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17607558	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17675742	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17675772	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2140109	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2177158	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2177159	0.84[EUR][1000 genomes]
rs34066851	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34255222	0.85[EUR][1000 genomes]
rs34336996	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34342746	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34363244	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34486680	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34586980	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34630993	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34678413	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34793558	0.85[EUR][1000 genomes]
rs34951511	0.84[EUR][1000 genomes]
rs35074878	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35087778	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35100959	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35250180	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35491413	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35658210	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35877256	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35938392	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36021289	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36023953	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36053861	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36120363	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3942485	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4711303	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4713556	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4713562	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4713569	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4713579	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs471560	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs471752	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs483637	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs490466	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs509971	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs513870	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs519140	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs524159	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs528679	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs538808	0.97[ASN][1000 genomes]
rs539160	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs552681	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs554671	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs555034	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs555742	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56055084	0.84[ASN][1000 genomes]
rs566237	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs571683	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs573082	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs574254	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs578507	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs581285	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs586105	0.85[ASN][1000 genomes]
rs598907	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs605058	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62394918	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62394920	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62394921	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62394922	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62394925	0.85[EUR][1000 genomes]
rs628980	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs637564	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6457608	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs661055	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs663283	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66502560	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67452935	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs675565	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67807015	0.84[EUR][1000 genomes]
rs678862	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs685384	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs687163	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6904209	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6907890	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6907900	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6907944	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6923613	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6923798	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7752671	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9348893	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9357151	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9366802	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9368729	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9380321	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9394108	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9394109	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9394115	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv432848	chr6:11371614-11560114	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv600989	chr6:11509323-11581990	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv3323084	chr6:11535666-11540364	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs821443	TMEM170B	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11536400-11540400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:11536800-11539200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:11536800-11539200	Active TSS	Psoas Muscle	Psoas
4	chr6:11536800-11539400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr6:11536800-11539400	Active TSS	Fetal Intestine Small	intestine
6	chr6:11536800-11539600	Active TSS	A549	lung
7	chr6:11536800-11540000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr6:11536800-11540400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:11537000-11538600	Active TSS	H1 Cell Line	embryonic stem cell
10	chr6:11537000-11538600	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr6:11537000-11538600	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr6:11537000-11538600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:11537000-11538800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr6:11537000-11538800	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr6:11537000-11538800	Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr6:11537000-11539000	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr6:11537000-11539000	Active TSS	Brain Hippocampus Middle	brain
18	chr6:11537000-11539000	Active TSS	Pancreas	Pancrea
19	chr6:11537000-11539000	Bivalent/Poised TSS	HepG2	liver
20	chr6:11537000-11539000	Active TSS	HSMM	muscle
21	chr6:11537000-11539200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:11537000-11539200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:11537000-11539200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:11537000-11539200	Active TSS	Brain Substantia Nigra	brain
25	chr6:11537000-11539200	Active TSS	Colonic Mucosa	Colon
26	chr6:11537000-11539200	Active TSS	Colon Smooth Muscle	Colon
27	chr6:11537000-11539200	Active TSS	Fetal Kidney	kidney
28	chr6:11537000-11539200	Active TSS	Left Ventricle	heart
29	chr6:11537000-11539200	Active TSS	Ovary	ovary
30	chr6:11537000-11539200	Active TSS	Right Ventricle	heart
31	chr6:11537000-11539200	Active TSS	NHDF-Ad	bronchial
32	chr6:11537000-11539400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:11537000-11539600	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr6:11537000-11540000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:11537000-11540000	Active TSS	Brain Anterior Caudate	brain
36	chr6:11537000-11540000	Active TSS	Right Atrium	heart
37	chr6:11537000-11540200	Active TSS	Brain Cingulate Gyrus	brain
38	chr6:11537000-11540400	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr6:11537000-11540600	Active TSS	Brain Angular Gyrus	brain
40	chr6:11537200-11538600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr6:11537200-11538600	Active TSS	Duodenum Mucosa	Duodenum
42	chr6:11537200-11538800	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr6:11537200-11538800	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr6:11537200-11538800	Active TSS	Stomach Smooth Muscle	stomach
45	chr6:11537200-11539000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr6:11537200-11539000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr6:11537200-11539000	Active TSS	Fetal Intestine Large	intestine
48	chr6:11537200-11539000	Active TSS	Gastric	stomach
49	chr6:11537200-11539200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:11537200-11539400	Active TSS	HSMMtube	muscle

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