Variant report

Variant	rs7450771
Chromosome Location	chr6:71275629-71275630
allele	C/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	TEAD4	chr6:71275619-71277160	K562	blood:	n/a	n/a
2	RPC155	chr6:71275140-71275976	K562	blood:	n/a	n/a
3	GATA1	chr6:71275215-71277374	K562	blood:	n/a	chr6:71276267-71276274
4	RCOR1	chr6:71275570-71277057	K562	blood:	n/a	n/a
5	GTF3C2	chr6:71275332-71276136	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:71121490..71124764-chr6:71274758..71276919,3	K562	blood:
2	chr6:71275193..71277991-chr6:71376243..71378994,4	MCF-7	breast:
3	chr6:71123174..71124742-chr6:71275552..71278057,2	K562	blood:

Variant related genes	Relation type
C6orf57	TF binding region
ENSG00000082269	Chromatin interaction
ENSG00000224349	Chromatin interaction
ENSG00000112305	Chromatin interaction

Extended variants
information (count: 165 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:158)

rs_ID	r²[population]
rs10214805	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10455706	0.86[EUR][1000 genomes]
rs1048886	0.84[EUR][1000 genomes]
rs10945230	0.95[EUR][1000 genomes]
rs10945231	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10945235	0.87[EUR][1000 genomes]
rs11965656	0.90[EUR][1000 genomes]
rs1208480	0.82[EUR][1000 genomes]
rs12180997	0.85[EUR][1000 genomes]
rs12191321	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12197942	0.95[EUR][1000 genomes]
rs12197963	0.95[EUR][1000 genomes]
rs12200777	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12201029	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12203089	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12203298	0.95[EUR][1000 genomes]
rs12209965	0.95[EUR][1000 genomes]
rs12216376	0.95[EUR][1000 genomes]
rs12524814	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12525538	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12525777	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12526164	0.94[EUR][1000 genomes]
rs12526787	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12526827	0.90[EUR][1000 genomes]
rs12526961	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12527634	0.92[EUR][1000 genomes]
rs12528385	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12528866	0.90[EUR][1000 genomes]
rs12529284	0.96[EUR][1000 genomes]
rs12529309	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12530057	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12530358	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16869267	0.90[EUR][1000 genomes]
rs16869340	0.88[EUR][1000 genomes]
rs16869353	0.96[EUR][1000 genomes]
rs16869370	0.87[EUR][1000 genomes]
rs16869371	0.96[EUR][1000 genomes]
rs16869373	0.96[EUR][1000 genomes]
rs1739338	0.82[EUR][1000 genomes]
rs17634272	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17634491	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17635446	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17635510	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17706748	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17706833	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17713105	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17713212	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17713547	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2207423	0.94[EUR][1000 genomes]
rs2207425	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2273210	0.90[EUR][1000 genomes]
rs2293297	0.96[EUR][1000 genomes]
rs2295200	0.92[EUR][1000 genomes]
rs2346890	0.92[EUR][1000 genomes]
rs2639291	0.82[EUR][1000 genomes]
rs2639297	0.84[EUR][1000 genomes]
rs2691486	0.82[EUR][1000 genomes]
rs2691488	0.82[EUR][1000 genomes]
rs2691490	0.82[EUR][1000 genomes]
rs2691493	0.80[EUR][1000 genomes]
rs2691494	0.82[EUR][1000 genomes]
rs2691495	0.80[EUR][1000 genomes]
rs2691496	0.82[EUR][1000 genomes]
rs2842063	0.86[EUR][1000 genomes]
rs2842081	0.82[EUR][1000 genomes]
rs2881632	0.84[EUR][1000 genomes]
rs3193656	0.96[EUR][1000 genomes]
rs34246525	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35159719	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3846750	0.83[EUR][1000 genomes]
rs3889007	0.83[EUR][1000 genomes]
rs41265349	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4283855	0.82[EUR][1000 genomes]
rs4496758	0.86[EUR][1000 genomes]
rs45460797	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55639214	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55761717	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55968813	0.91[EUR][1000 genomes]
rs55990553	0.85[EUR][1000 genomes]
rs55990831	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56074506	0.96[EUR][1000 genomes]
rs56114703	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56143128	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56179165	0.96[EUR][1000 genomes]
rs56322111	0.96[EUR][1000 genomes]
rs56397968	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58370765	0.87[EUR][1000 genomes]
rs58637377	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59275635	0.88[EUR][1000 genomes]
rs59698166	0.86[EUR][1000 genomes]
rs6455369	0.81[EUR][1000 genomes]
rs6455370	0.88[EUR][1000 genomes]
rs6900840	0.82[EUR][1000 genomes]
rs6901232	0.82[EUR][1000 genomes]
rs6901904	0.90[EUR][1000 genomes]
rs6906592	0.82[EUR][1000 genomes]
rs6911812	0.82[EUR][1000 genomes]
rs6911983	0.96[EUR][1000 genomes]
rs6913548	0.92[EUR][1000 genomes]
rs6916974	0.96[EUR][1000 genomes]
rs6918393	0.82[EUR][1000 genomes]
rs6919794	0.82[EUR][1000 genomes]
rs6920515	0.84[EUR][1000 genomes]
rs6933150	0.92[EUR][1000 genomes]
rs6940416	0.87[EUR][1000 genomes]
rs6941595	0.96[EUR][1000 genomes]
rs6942012	0.88[EUR][1000 genomes]
rs73474998	0.90[EUR][1000 genomes]
rs73478819	0.90[EUR][1000 genomes]
rs73480275	0.95[EUR][1000 genomes]
rs73480280	0.95[EUR][1000 genomes]
rs73482554	0.90[EUR][1000 genomes]
rs73482557	0.90[EUR][1000 genomes]
rs73482585	0.90[EUR][1000 genomes]
rs73489091	0.86[EUR][1000 genomes]
rs7739517	0.80[EUR][1000 genomes]
rs7740873	0.85[EUR][1000 genomes]
rs7741265	0.88[EUR][1000 genomes]
rs7752409	0.82[EUR][1000 genomes]
rs7753355	0.84[EUR][1000 genomes]
rs7756774	0.96[EUR][1000 genomes]
rs7757026	0.95[EUR][1000 genomes]
rs7759464	0.83[EUR][1000 genomes]
rs7766075	0.83[EUR][1000 genomes]
rs7769582	0.84[EUR][1000 genomes]
rs7773794	0.80[EUR][1000 genomes]
rs7775962	0.82[EUR][1000 genomes]
rs9283835	0.86[EUR][1000 genomes]
rs9294868	0.83[EUR][1000 genomes]
rs9294871	0.86[EUR][1000 genomes]
rs9294872	0.90[EUR][1000 genomes]
rs9294874	0.82[EUR][1000 genomes]
rs9294876	0.88[EUR][1000 genomes]
rs9446245	0.82[EUR][1000 genomes]
rs9446248	0.83[EUR][1000 genomes]
rs9446252	0.81[EUR][1000 genomes]
rs9446267	0.88[EUR][1000 genomes]
rs9455094	0.83[EUR][1000 genomes]
rs9455097	0.83[EUR][1000 genomes]
rs9455101	0.83[EUR][1000 genomes]
rs9455113	0.90[EUR][1000 genomes]
rs9455114	0.87[EUR][1000 genomes]
rs9455121	0.90[EUR][1000 genomes]
rs9455130	0.82[EUR][1000 genomes]
rs9455139	0.89[EUR][1000 genomes]
rs9455140	0.89[EUR][1000 genomes]
rs9455144	0.86[EUR][1000 genomes]
rs9455150	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9455151	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9455158	0.88[EUR][1000 genomes]
rs9455160	0.88[EUR][1000 genomes]
rs9455161	0.96[EUR][1000 genomes]
rs9455162	0.95[EUR][1000 genomes]
rs9455163	0.95[EUR][1000 genomes]
rs9455168	0.84[EUR][1000 genomes]
rs9455177	0.85[EUR][1000 genomes]
rs9455181	0.87[EUR][1000 genomes]
rs9455182	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv886145	chr6:71119524-71317480	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv886146	chr6:71219464-71317480	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv886147	chr6:71273253-71471863	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71214000-71276000	Weak transcription	Brain Angular Gyrus	brain
2	chr6:71214000-71276000	Weak transcription	Brain Germinal Matrix	brain
3	chr6:71214000-71276000	Weak transcription	Colon Smooth Muscle	Colon
4	chr6:71214600-71276000	Weak transcription	A549	lung
5	chr6:71228600-71276000	Weak transcription	Primary T cells from cord blood	blood
6	chr6:71229600-71276200	Weak transcription	Aorta	Aorta
7	chr6:71237000-71276200	Weak transcription	Left Ventricle	heart
8	chr6:71243400-71276200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:71245400-71276400	Weak transcription	Esophagus	oesophagus
10	chr6:71245400-71276400	Weak transcription	Gastric	stomach
11	chr6:71245600-71276200	Weak transcription	Primary B cells from cord blood	blood
12	chr6:71249200-71275800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr6:71249400-71276200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:71249800-71276200	Weak transcription	Fetal Brain Female	brain
15	chr6:71250000-71276000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr6:71250000-71276000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:71250400-71276000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr6:71250600-71276000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:71250600-71276000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr6:71250600-71276200	Weak transcription	Fetal Muscle Leg	muscle
21	chr6:71251800-71276200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr6:71253400-71276200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr6:71260000-71276000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr6:71260400-71275800	Weak transcription	Fetal Intestine Large	intestine
25	chr6:71260400-71276000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:71260600-71276000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr6:71260800-71275800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr6:71267400-71276000	Weak transcription	Liver	Liver
29	chr6:71268200-71276000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr6:71268200-71276000	Weak transcription	Lung	lung
31	chr6:71268200-71276200	Weak transcription	Placenta	Placenta
32	chr6:71268400-71276000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr6:71268600-71275800	Weak transcription	Brain Hippocampus Middle	brain
34	chr6:71268600-71276000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr6:71268600-71276200	Weak transcription	Ovary	ovary
36	chr6:71269000-71276000	Weak transcription	Fetal Stomach	stomach
37	chr6:71269000-71276000	Weak transcription	Pancreas	Pancrea
38	chr6:71270400-71276000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:71270800-71276000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:71270800-71276200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:71271800-71276000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr6:71272600-71276000	Enhancers	Adipose Nuclei	Adipose
43	chr6:71273400-71276000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr6:71273400-71276000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr6:71273600-71276000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr6:71273600-71276000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr6:71273600-71276200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:71273600-71276600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:71273800-71276000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:71273800-71276200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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