Variant report

Variant	rs36094082
Chromosome Location	chr6:56706951-56706952
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr6:56705493-56707112	H1-neurons	neurons:	n/a	chr6:56707056-56707069
2	STAT3	chr6:56706821-56707021	MCF10A-Er-Src	breast:	n/a	n/a
3	CHD1	chr6:56704985-56709414	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56704167..56710132-chr6:56712428..56720773,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231441	TF binding region
ENSG00000151914	Chromatin interaction

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs10498812	0.96[EUR][1000 genomes]
rs10498813	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11756551	0.85[EUR][1000 genomes]
rs13190854	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13192540	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13192931	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13194625	0.96[EUR][1000 genomes]
rs13194904	0.89[EUR][1000 genomes]
rs13195601	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13198204	0.89[EUR][1000 genomes]
rs13198597	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13200166	0.89[EUR][1000 genomes]
rs13200559	0.84[EUR][1000 genomes]
rs13200768	0.88[EUR][1000 genomes]
rs13200868	0.82[EUR][1000 genomes]
rs13201639	0.89[EUR][1000 genomes]
rs13201733	0.89[EUR][1000 genomes]
rs13203148	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13203327	0.85[EUR][1000 genomes]
rs13203681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13204466	0.88[EUR][1000 genomes]
rs13205667	0.84[EUR][1000 genomes]
rs13207768	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13208409	0.81[EUR][1000 genomes]
rs13211879	0.94[EUR][1000 genomes]
rs13214893	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13215883	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13218913	0.89[EUR][1000 genomes]
rs13220618	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13220628	0.96[EUR][1000 genomes]
rs13220851	0.91[EUR][1000 genomes]
rs1610156	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1610157	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16888171	0.89[EUR][1000 genomes]
rs16888184	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16888186	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17684730	0.89[EUR][1000 genomes]
rs17684748	0.89[EUR][1000 genomes]
rs17684772	0.89[EUR][1000 genomes]
rs17684784	0.89[EUR][1000 genomes]
rs17684802	0.89[EUR][1000 genomes]
rs17684878	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17684884	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17684941	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17751966	0.89[EUR][1000 genomes]
rs17751977	0.89[EUR][1000 genomes]
rs17752002	0.89[EUR][1000 genomes]
rs17752046	0.89[EUR][1000 genomes]
rs17752106	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17752213	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1903332	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28360570	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34083827	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34171958	0.90[EUR][1000 genomes]
rs34228698	0.89[EUR][1000 genomes]
rs34359353	0.90[EUR][1000 genomes]
rs34425815	0.88[EUR][1000 genomes]
rs34500949	0.84[EUR][1000 genomes]
rs34520435	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34612783	0.88[EUR][1000 genomes]
rs34614087	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34640766	0.89[EUR][1000 genomes]
rs34866877	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34896026	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34966024	0.83[EUR][1000 genomes]
rs35073881	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35080938	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35081015	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35225175	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35242294	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35251663	0.88[EUR][1000 genomes]
rs35407078	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35439100	0.97[EUR][1000 genomes]
rs35440408	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35440822	0.90[EUR][1000 genomes]
rs35461301	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35566812	0.87[EUR][1000 genomes]
rs35609883	0.89[EUR][1000 genomes]
rs35642890	0.89[EUR][1000 genomes]
rs35696739	0.89[EUR][1000 genomes]
rs35828379	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35851452	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35873865	0.87[EUR][1000 genomes]
rs35886823	0.89[EUR][1000 genomes]
rs35986172	0.81[EUR][1000 genomes]
rs36022925	0.89[EUR][1000 genomes]
rs36037734	0.89[EUR][1000 genomes]
rs4299824	0.89[EUR][1000 genomes]
rs4348308	0.89[EUR][1000 genomes]
rs4371846	0.89[EUR][1000 genomes]
rs4415160	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4457154	0.89[EUR][1000 genomes]
rs4532444	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4587171	0.86[EUR][1000 genomes]
rs56037312	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56368885	0.82[EUR][1000 genomes]
rs58980183	0.82[EUR][1000 genomes]
rs59432342	0.89[EUR][1000 genomes]
rs61601344	0.89[EUR][1000 genomes]
rs62411366	0.82[EUR][1000 genomes]
rs62411367	0.84[EUR][1000 genomes]
rs62411372	0.88[EUR][1000 genomes]
rs62411375	0.88[EUR][1000 genomes]
rs62411376	0.89[EUR][1000 genomes]
rs6904535	0.84[EUR][1000 genomes]
rs6905603	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6910414	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6914293	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6918949	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6928104	0.82[EUR][1000 genomes]
rs6934714	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71564854	0.89[EUR][1000 genomes]
rs71564855	0.90[EUR][1000 genomes]
rs71564856	0.89[EUR][1000 genomes]
rs71564861	0.89[EUR][1000 genomes]
rs71564863	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7758867	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7761501	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7761729	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7766565	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7771085	0.94[EUR][1000 genomes]
rs7775182	0.91[AMR][1000 genomes];0.97[EUR][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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56703000-56707200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:56704000-56709400	Active TSS	Right Atrium	heart
3	chr6:56704200-56707400	Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr6:56704200-56707600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr6:56704200-56709200	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr6:56704600-56709200	Active TSS	HSMMtube	muscle
7	chr6:56704800-56709400	Active TSS	HSMM	muscle
8	chr6:56705000-56709400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr6:56705200-56707000	Flanking Active TSS	NH-A	brain
10	chr6:56705200-56707400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:56705200-56707400	Flanking Active TSS	Osteobl	bone
12	chr6:56705200-56709400	Active TSS	Right Ventricle	heart
13	chr6:56705400-56707200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr6:56705400-56707400	Active TSS	Fetal Muscle Leg	muscle
15	chr6:56705400-56707600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:56705400-56707600	Active TSS	Fetal Muscle Trunk	muscle
17	chr6:56705400-56708000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:56705400-56708000	Flanking Active TSS	HUVEC	blood vessel
19	chr6:56705400-56709200	Active TSS	Brain Cingulate Gyrus	brain
20	chr6:56705400-56709200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:56705600-56707600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr6:56705600-56707600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:56705600-56707600	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr6:56705600-56708200	Active TSS	Fetal Heart	heart
25	chr6:56705600-56709200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr6:56705600-56709200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:56705600-56709200	Active TSS	Aorta	Aorta
28	chr6:56705600-56709200	Active TSS	Left Ventricle	heart
29	chr6:56705600-56709200	Active TSS	Stomach Smooth Muscle	stomach
30	chr6:56705600-56709200	Active TSS	NHLF	lung
31	chr6:56705600-56709400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:56705800-56709200	Active TSS	A549	lung
33	chr6:56705800-56709400	Active TSS	Muscle Satellite Cultured Cells	--
34	chr6:56705800-56709400	Active TSS	Brain Anterior Caudate	brain
35	chr6:56706000-56707200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:56706000-56709000	Active TSS	Fetal Brain Female	brain
37	chr6:56706000-56709200	Active TSS	H1 Cell Line	embryonic stem cell
38	chr6:56706000-56709200	Active TSS	Ovary	ovary
39	chr6:56706200-56707000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:56706200-56707200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:56706200-56707200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:56706200-56707200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:56706200-56707200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:56706200-56707200	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr6:56706200-56707400	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr6:56706200-56707400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:56706200-56707400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:56706200-56707400	Weak transcription	NHEK	skin
49	chr6:56706200-56707600	Active TSS	Fetal Stomach	stomach
50	chr6:56706200-56707800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum

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