Variant report

Variant	rs73413828
Chromosome Location	chr6:34640393-34640394
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	POLR2A	chr6:34639498-34641830	GM12891	blood:	n/a	n/a
2	CUX1	chr6:34640383-34640960	GM12878	blood:	n/a	n/a
3	CHD1	chr6:34639577-34641767	GM12878	blood:	n/a	n/a
4	NFIC	chr6:34640132-34642350	GM12878	blood:	n/a	n/a
5	POLR2A	chr6:34639418-34641826	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:34640316-34641936	GM12878	blood:	n/a	n/a
7	MTA3	chr6:34639368-34640971	GM12878	blood:	n/a	n/a
8	PML	chr6:34639288-34640570	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:34640245..34642363-chr6:34759538..34762413,2	K562	blood:

Variant related genes	Relation type
C6orf106	TF binding region
ENSG00000065060	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs12111029	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57106758	1.00[ASN][1000 genomes]
rs58971485	1.00[ASN][1000 genomes]
rs59183825	1.00[ASN][1000 genomes]
rs59191826	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59240548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60220209	1.00[ASN][1000 genomes]
rs60345670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61510762	1.00[ASN][1000 genomes]
rs6913723	1.00[ASN][1000 genomes]
rs6919218	1.00[ASN][1000 genomes]
rs6924259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927376	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6931073	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6931985	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6936924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6938501	1.00[ASN][1000 genomes]
rs6939293	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6939783	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409960	1.00[ASN][1000 genomes]
rs73409969	1.00[ASN][1000 genomes]
rs73409978	1.00[ASN][1000 genomes]
rs73409982	1.00[ASN][1000 genomes]
rs73409987	1.00[ASN][1000 genomes]
rs73409995	1.00[ASN][1000 genomes]
rs73409996	1.00[ASN][1000 genomes]
rs73410000	1.00[ASN][1000 genomes]
rs73411915	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411935	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411944	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411957	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411971	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411982	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411984	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73411992	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411995	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413804	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413808	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413811	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413845	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413854	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413875	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413885	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73746653	1.00[ASN][1000 genomes]
rs7742598	1.00[ASN][1000 genomes]
rs7759296	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7762752	1.00[ASN][1000 genomes]
rs7766657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9942450	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv830640	chr6:34542489-34714677	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv885794	chr6:34561585-34673149	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv1032557	chr6:34565802-34802008	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv538196	chr6:34565802-34802008	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
13	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34625800-34640600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:34626000-34647600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:34626000-34662000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr6:34626800-34641600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr6:34626800-34662400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr6:34628000-34641400	Weak transcription	Gastric	stomach
7	chr6:34632600-34647400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:34632800-34640600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr6:34632800-34640600	Weak transcription	Brain Substantia Nigra	brain
10	chr6:34632800-34655200	Weak transcription	Fetal Stomach	stomach
11	chr6:34633000-34662800	Weak transcription	Aorta	Aorta
12	chr6:34633200-34641200	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:34633400-34641400	Weak transcription	Ovary	ovary
14	chr6:34634400-34641400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:34634800-34663200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:34635800-34640600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:34635800-34641200	Enhancers	HepG2	liver
18	chr6:34635800-34647400	Weak transcription	Brain Angular Gyrus	brain
19	chr6:34636200-34640800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr6:34636400-34662200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:34638200-34642200	Enhancers	Liver	Liver
22	chr6:34638400-34642400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr6:34638600-34644200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:34638800-34640600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr6:34638800-34640800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr6:34638800-34641800	Enhancers	NHLF	lung
27	chr6:34638800-34642800	Enhancers	Adipose Nuclei	Adipose
28	chr6:34638800-34643000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:34639000-34640400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:34639000-34640400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:34639000-34640400	Enhancers	Primary hematopoietic stem cells	blood
32	chr6:34639000-34640400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:34639000-34640600	Flanking Active TSS	GM12878-XiMat	blood
34	chr6:34639000-34641600	Enhancers	Small Intestine	intestine
35	chr6:34639000-34642400	Enhancers	NHDF-Ad	bronchial
36	chr6:34639000-34643000	Enhancers	Fetal Thymus	thymus
37	chr6:34639000-34643200	Enhancers	Fetal Intestine Large	intestine
38	chr6:34639200-34641400	Enhancers	A549	lung
39	chr6:34639200-34641600	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr6:34639400-34640400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr6:34639400-34640400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr6:34639400-34640800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:34639400-34640800	Enhancers	Fetal Muscle Leg	muscle
44	chr6:34639400-34641200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr6:34639400-34641400	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr6:34639400-34641400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr6:34639400-34641600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr6:34639400-34641600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr6:34639400-34641600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:34639400-34642400	Enhancers	HUVEC	blood vessel

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