Variant report

Variant	rs73413885
Chromosome Location	chr6:34665442-34665443
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:34664504-34666032	K562	blood:	n/a	n/a
2	CBX3	chr6:34665415-34666102	K562	blood:	n/a	n/a
3	RCOR1	chr6:34664100-34666097	K562	blood:	n/a	n/a
4	POLR2A	chr6:34664283-34665463	K562	blood:	n/a	n/a
5	POLR2A	chr6:34664345-34666027	K562	blood:	n/a	n/a
6	CREB1	chr6:34664236-34665544	GM12878	blood:	n/a	chr6:34664726-34664739
7	CEBPB	chr6:34664623-34665447	A549	lung:	n/a	chr6:34665129-34665140
8	MAFK	chr6:34664771-34665499	K562	blood:	n/a	n/a
9	POLR2A	chr6:34664012-34666018	K562	blood:	n/a	n/a
10	EP300	chr6:34664596-34666206	K562	blood:	n/a	n/a
11	POLR2A	chr6:34664272-34665656	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:34664221-34665999	K562	blood:	n/a	n/a
13	JUN	chr6:34664595-34666170	K562	blood:	n/a	chr6:34666143-34666153 chr6:34664806-34664815
14	NR2F2	chr6:34663078-34665516	K562	blood:	n/a	n/a
15	POLR2A	chr6:34663999-34665448	Raji	blood:	n/a	n/a
16	POLR2A	chr6:34664198-34666002	GM12891	blood:	n/a	n/a
17	TEAD4	chr6:34664573-34666092	K562	blood:	n/a	n/a
18	POLR2A	chr6:34664107-34665460	K562	blood:	n/a	n/a
19	JUN	chr6:34663879-34666687	K562	blood:	n/a	chr6:34664457-34664466 chr6:34666143-34666153 chr6:34664806-34664815
20	POLR2A	chr6:34664162-34665869	GM18505	blood:	n/a	n/a
21	MYBL2	chr6:34664053-34665442	HepG2	liver:	n/a	n/a
22	TBP	chr6:34664323-34666026	K562	blood:	n/a	n/a
23	MAZ	chr6:34663040-34666053	K562	blood:	n/a	n/a
24	JUND	chr6:34664307-34666247	K562	blood:	n/a	chr6:34664457-34664466 chr6:34666143-34666153 chr6:34664806-34664815
25	REST	chr6:34663717-34665466	H1-neurons	neurons:	n/a	chr6:34664132-34664145

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34663247..34666234-chr6:34723415..34727175,3	K562	blood:
2	chr6:34663461..34666396-chr6:34758437..34761219,3	K562	blood:
3	chr6:34663907..34669185-chr6:34723600..34728462,6	MCF-7	breast:
4	chr6:34665132..34667717-chr6:34706629..34708944,2	MCF-7	breast:
5	chr6:34664734..34666755-chr6:34668036..34669637,2	K562	blood:
6	chr6:34433144..34435297-chr6:34663197..34665594,2	MCF-7	breast:
7	chr6:34659775..34661894-chr6:34663558..34666240,3	K562	blood:
8	chr6:34664965..34667279-chr6:34675934..34678672,3	K562	blood:
9	chr6:34663247..34666328-chr6:34722695..34726583,8	K562	blood:
10	chr6:34664585..34666258-chr6:34723626..34725241,2	MCF-7	breast:
11	chr6:34392408..34394621-chr6:34663502..34666102,2	K562	blood:
12	chr6:34649586..34652220-chr6:34663564..34665833,2	MCF-7	breast:
13	chr6:34662945..34666396-chr6:34758284..34762755,7	K562	blood:

No data

Variant related genes	Relation type
C6orf106	TF binding region
ENSG00000065060	Chromatin interaction
ENSG00000124614	Chromatin interaction
ENSG00000238484	Chromatin interaction
ENSG00000124562	Chromatin interaction
ENSG00000124507	Chromatin interaction
ENSG00000239059	Chromatin interaction
ENSG00000270800	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs12111029	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58971485	1.00[ASN][1000 genomes]
rs59183825	1.00[ASN][1000 genomes]
rs59191826	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59240548	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60220209	1.00[ASN][1000 genomes]
rs60345670	1.00[AMR][1000 genomes];0.83[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];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927376	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6931073	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6931985	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6936924	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6938501	1.00[ASN][1000 genomes]
rs6939293	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6939783	1.00[AMR][1000 genomes];0.83[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];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411935	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411944	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411956	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411957	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411971	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411982	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411984	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73411992	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411995	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413804	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413808	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413811	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413812	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413815	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413824	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413828	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413843	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413845	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413847	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413854	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413869	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413870	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413875	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413879	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742598	1.00[ASN][1000 genomes]
rs7759296	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7762752	1.00[ASN][1000 genomes]
rs7766657	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9942450	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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
14	nsv5255	chr6:34658569-34703563	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	esv3341496	chr6:34663774-34665822	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34659800-34665600	Active TSS	GM12878-XiMat	blood
2	chr6:34662800-34665600	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr6:34663200-34665600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:34663400-34665800	Active TSS	A549	lung
5	chr6:34663600-34665600	Active TSS	K562	blood
6	chr6:34663600-34665800	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr6:34663600-34666000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:34663800-34665800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:34664000-34665600	Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr6:34664000-34665800	Active TSS	Brain Anterior Caudate	brain
11	chr6:34664200-34665600	Active TSS	Primary hematopoietic stem cells	blood
12	chr6:34664800-34665600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr6:34665000-34665600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr6:34665000-34665600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr6:34665000-34665600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr6:34665000-34665600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:34665000-34665600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:34665000-34665600	Flanking Active TSS	HMEC	breast
19	chr6:34665000-34665800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr6:34665000-34665800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:34665000-34665800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:34665000-34666000	Flanking Active TSS	Dnd41	blood
23	chr6:34665200-34665600	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr6:34665200-34665600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr6:34665200-34665600	Active TSS	Stomach Smooth Muscle	stomach
26	chr6:34665200-34665800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr6:34665200-34665800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr6:34665400-34665600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:34665400-34665600	Enhancers	Primary B cells from cord blood	blood
30	chr6:34665400-34665600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr6:34665400-34665600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:34665400-34665600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr6:34665400-34665600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr6:34665400-34665600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:34665400-34665600	Enhancers	Liver	Liver
36	chr6:34665400-34665600	Active TSS	Brain Angular Gyrus	brain
37	chr6:34665400-34665600	Active TSS	Brain Germinal Matrix	brain
38	chr6:34665400-34665600	Enhancers	Brain Hippocampus Middle	brain
39	chr6:34665400-34665600	Enhancers	Colonic Mucosa	Colon
40	chr6:34665400-34665600	Active TSS	Duodenum Mucosa	Duodenum
41	chr6:34665400-34665600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr6:34665400-34665600	Active TSS	Fetal Brain Female	brain
43	chr6:34665400-34665600	Enhancers	Fetal Intestine Large	intestine
44	chr6:34665400-34665600	Enhancers	Fetal Intestine Small	intestine
45	chr6:34665400-34665600	Enhancers	Psoas Muscle	Psoas
46	chr6:34665400-34665600	Flanking Active TSS	HepG2	liver
47	chr6:34665400-34665800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:34665400-34665800	Enhancers	Primary B cells from peripheral blood	blood
49	chr6:34665400-34665800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr6:34665400-34665800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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