Variant report

Variant	rs73413845
Chromosome Location	chr6:34649576-34649577
allele	C/G
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	chr6:34649492-34649860	K562	blood:	n/a	n/a
2	CEBPB	chr6:34649497-34649619	K562	blood:	n/a	n/a
3	CEBPB	chr6:34648746-34649586	Hela-S3	cervix:	n/a	chr6:34649150-34649161
4	ZNF384	chr6:34649549-34649749	K562	blood:	n/a	n/a
5	ZNF384	chr6:34648585-34649871	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:34639252..34641704-chr6:34648806..34650396,2	K562	blood:

Variant related genes	Relation type
ENSG00000239059	TF binding region
ENSG00000220643	TF binding region
ENSG00000196821	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	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	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	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6931985	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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6939783	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	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	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	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411971	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411982	0.87[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	0.87[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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413812	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413815	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413824	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413828	0.91[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]
rs73413847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413854	0.82[AFR][1000 genomes];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	0.82[AFR][1000 genomes];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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7762752	1.00[ASN][1000 genomes]
rs7766657	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9942450	0.87[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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34626000-34662000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr6:34626800-34662400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr6:34632800-34655200	Weak transcription	Fetal Stomach	stomach
4	chr6:34633000-34662800	Weak transcription	Aorta	Aorta
5	chr6:34634800-34663200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:34636400-34662200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:34639800-34662800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:34639800-34662800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:34640200-34656600	Weak transcription	Spleen	Spleen
10	chr6:34640800-34655800	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:34641400-34662800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:34641600-34654800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:34641600-34654800	Weak transcription	Dnd41	blood
14	chr6:34641600-34655400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:34641800-34656400	Weak transcription	Left Ventricle	heart
16	chr6:34641800-34661200	Weak transcription	Brain Hippocampus Middle	brain
17	chr6:34641800-34663200	Weak transcription	Gastric	stomach
18	chr6:34642200-34656000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:34642200-34663000	Weak transcription	Thymus	Thymus
20	chr6:34643000-34655400	Weak transcription	Fetal Thymus	thymus
21	chr6:34643000-34655800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:34643000-34655800	Weak transcription	Lung	lung
23	chr6:34643000-34656400	Weak transcription	Pancreas	Pancrea
24	chr6:34643000-34661200	Weak transcription	Right Atrium	heart
25	chr6:34643000-34662800	Weak transcription	Stomach Mucosa	stomach
26	chr6:34643200-34650600	Enhancers	Liver	Liver
27	chr6:34647000-34649600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:34647000-34649600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:34647000-34649600	Enhancers	Primary hematopoietic stem cells	blood
30	chr6:34647200-34649800	Enhancers	Fetal Intestine Small	intestine
31	chr6:34647400-34649600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr6:34647400-34649600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr6:34647400-34649600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:34647400-34649800	Enhancers	Primary B cells from cord blood	blood
35	chr6:34647400-34649800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:34647400-34649800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr6:34647400-34650800	Enhancers	Primary B cells from peripheral blood	blood
38	chr6:34647600-34650600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:34647800-34649600	Enhancers	K562	blood
40	chr6:34647800-34652200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr6:34647800-34652600	Weak transcription	Psoas Muscle	Psoas
42	chr6:34647800-34660800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr6:34647800-34661000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr6:34647800-34662000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr6:34647800-34662200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:34647800-34662400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr6:34647800-34662600	Weak transcription	Ovary	ovary
48	chr6:34647800-34662800	Weak transcription	Brain Substantia Nigra	brain
49	chr6:34647800-34662800	Weak transcription	HSMMtube	muscle
50	chr6:34648000-34651600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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