Variant report

Variant	rs73410010
Chromosome Location	chr6:33268136-33268137
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:33266502-33268161	GM12891	blood:	n/a	n/a
2	POLR2A	chr6:33265138-33268830	K562	blood:	n/a	n/a
3	MAX	chr6:33266455-33268231	MCF-7	breast:	n/a	chr6:33267194-33267204
4	PML	chr6:33266732-33268162	MCF-7	breast:	n/a	n/a
5	JUN	chr6:33264507-33268241	K562	blood:	n/a	chr6:33264795-33264808 chr6:33267162-33267176 chr6:33266833-33266842
6	POLR2A	chr6:33266414-33268204	GM12891	blood:	n/a	n/a
7	POLR2A	chr6:33266389-33268848	HepG2	liver:	n/a	n/a
8	POLR2A	chr6:33266392-33268195	GM12891	blood:	n/a	n/a
9	PML	chr6:33266429-33268145	K562	blood:	n/a	n/a
10	ELF1	chr6:33266585-33268143	MCF-7	breast:	n/a	chr6:33266792-33266804
11	POLR2A	chr6:33266597-33268174	PFSK-1	brain:	n/a	n/a
12	REST	chr6:33266451-33268214	H1-neurons	neurons:	n/a	chr6:33267206-33267219
13	MYBL2	chr6:33266372-33268149	HepG2	liver:	n/a	n/a
14	POLR2A	chr6:33266677-33268168	HepG2	liver:	n/a	n/a
15	JUND	chr6:33266045-33268278	MCF-7	breast:	n/a	chr6:33267162-33267176 chr6:33266833-33266842
16	POLR2A	chr6:33266511-33268221	K562	blood:	n/a	n/a
17	POLR2A	chr6:33265853-33268137	GM19193	blood:	n/a	n/a
18	POLR2A	chr6:33266483-33268252	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr6:33265121-33268324	MCF-7	breast:	n/a	n/a
20	MXI1	chr6:33264916-33268272	SK-N-SH	brain:	n/a	n/a
21	SIN3AK20	chr6:33264988-33268293	MCF-7	breast:	n/a	n/a
22	POLR2A	chr6:33266317-33268256	GM12892	blood:	n/a	n/a
23	CTCF	chr6:33268000-33268150	NB4	blood:	n/a	n/a
24	MTA3	chr6:33265148-33268167	GM12878	blood:	n/a	n/a
25	POLR2A	chr6:33266400-33268269	GM12892	blood:	n/a	n/a
26	POLR2A	chr6:33266491-33268137	K562	blood:	n/a	n/a
27	CTCF	chr6:33266589-33268236	SK-N-SH	brain:	n/a	chr6:33267203-33267216 chr6:33267003-33267012
28	POLR2A	chr6:33266479-33268148	GM12878	blood:	n/a	n/a
29	POLR2A	chr6:33265773-33268154	K562	blood:	n/a	n/a
30	POLR2A	chr6:33266368-33268221	GM12892	blood:	n/a	n/a
31	POLR2A	chr6:33265167-33268201	MCF-7	breast:	n/a	n/a
32	POLR2A	chr6:33266366-33268161	GM12892	blood:	n/a	n/a
33	POLR2A	chr6:33265763-33268138	IMR90	lung:	n/a	n/a
34	POLR2A	chr6:33266556-33268181	K562	blood:	n/a	n/a
35	MAZ	chr6:33264736-33268214	IMR90	lung:	n/a	chr6:33267194-33267204
36	POLR2A	chr6:33266409-33268168	HL-60	blood:	n/a	n/a
37	POLR2A	chr6:33266426-33268233	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr6:33265782-33268162	K562	blood:	n/a	n/a
39	CHD1	chr6:33265833-33268261	IMR90	lung:	n/a	chr6:33266785-33266795
40	POLR2A	chr6:33266395-33268211	HCT-116	colon:	n/a	n/a
41	POLR2A	chr6:33265659-33268233	K562	blood:	n/a	n/a
42	POLR2A	chr6:33266271-33268280	GM12878	blood:	n/a	n/a
43	POLR2A	chr6:33266437-33268196	GM12891	blood:	n/a	n/a
44	POLR2A	chr6:33266490-33268218	GM12878	blood:	n/a	n/a
45	POLR2A	chr6:33266536-33268174	K562	blood:	n/a	n/a
46	POLR2A	chr6:33265821-33268245	K562	blood:	n/a	n/a
47	POLR2A	chr6:33264898-33268329	MCF-7	breast:	n/a	n/a
48	POLR2A	chr6:33266774-33268176	GM12891	blood:	n/a	n/a
49	POLR2A	chr6:33266447-33268229	SK-N-SH	brain:	n/a	n/a
50	CEBPD	chr6:33266578-33268184	K562	blood:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33165372..33170767-chr6:33266115..33268730,6	K562	blood:
2	chr6:33267465..33269155-chr6:33376633..33379062,2	MCF-7	breast:
3	chr6:33214841..33218494-chr6:33265669..33268981,6	K562	blood:
4	chr6:33263073..33268205-chr6:33376944..33380191,7	MCF-7	breast:
5	chr6:33259755..33275794-chr6:33276314..33291745,68	MCF-7	breast:
6	chr6:33267207..33268757-chr6:33386828..33389993,3	MCF-7	breast:
7	chr6:33265384..33269852-chr6:33356528..33361842,9	K562	blood:
8	chr6:32938856..32941327-chr6:33266126..33268647,2	MCF-7	breast:
9	chr6:33267113..33268669-chr6:33380615..33382351,2	K562	blood:
10	chr6:33264179..33271329-chr6:33356528..33360865,9	K562	blood:
11	chr6:33167814..33169961-chr6:33266237..33268419,3	MCF-7	breast:
12	chr6:33264302..33268972-chr6:33371896..33376016,7	MCF-7	breast:
13	chr6:33167108..33170090-chr6:33265777..33268521,5	K562	blood:
14	chr6:33264410..33268847-chr6:33383674..33387403,5	MCF-7	breast:
15	chr6:33267122..33269021-chr6:33335374..33337142,2	K562	blood:
16	chr4:6911121..6911886-chr6:33267397..33268233,2	Hela-S3	cervix:
17	chr6:33267250..33269134-chr6:33353742..33356077,2	K562	blood:
18	chr6:33263619..33269524-chr6:33392449..33400505,13	K562	blood:
19	chr6:33264378..33268881-chr6:33383627..33388443,14	K562	blood:

No data

Variant related genes	Relation type
RGL2	TF binding region
ENSG00000232940	Chromatin interaction
ENSG00000231925	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000225644	Chromatin interaction
ENSG00000112511	Chromatin interaction
ENSG00000204231	Chromatin interaction
ENSG00000202441	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000112514	Chromatin interaction
ENSG00000112473	Chromatin interaction
ENSG00000263756	Chromatin interaction
ENSG00000236104	Chromatin interaction
ENSG00000204209	Chromatin interaction
ENSG00000197283	Chromatin interaction
ENSG00000132405	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs3173275	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56999860	0.82[AFR][1000 genomes]
rs57582515	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57745261	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58283032	0.83[AFR][1000 genomes]
rs58759132	0.97[AFR][1000 genomes]
rs58883992	0.98[AFR][1000 genomes]
rs59097151	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59142568	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59368071	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59531270	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60170976	0.98[AFR][1000 genomes]
rs60813085	0.88[AFR][1000 genomes]
rs6906693	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6908509	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6920095	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6931141	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408048	0.88[AFR][1000 genomes]
rs73408053	0.90[AFR][1000 genomes]
rs73408061	0.97[AFR][1000 genomes]
rs73408065	0.97[AFR][1000 genomes]
rs73408067	0.97[AFR][1000 genomes]
rs73410003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73410043	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73410049	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830634	chr6:33161217-33330745	Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33264600-33268200	Active TSS	Fetal Kidney	kidney
2	chr6:33264800-33268200	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr6:33264800-33268400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:33264800-33268600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr6:33264800-33268600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:33264800-33269000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:33264800-33269000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr6:33265000-33268200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr6:33265000-33268200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:33265000-33268200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:33265000-33268200	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr6:33265000-33268200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr6:33265000-33268200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:33265000-33268200	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr6:33265000-33268200	Active TSS	Brain Cingulate Gyrus	brain
16	chr6:33265000-33268400	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr6:33265000-33268600	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr6:33265200-33268200	Active TSS	Brain Angular Gyrus	brain
19	chr6:33265200-33268200	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr6:33265200-33268200	Active TSS	Gastric	stomach
21	chr6:33265200-33268400	Active TSS	H1 Cell Line	embryonic stem cell
22	chr6:33265200-33268400	Active TSS	Psoas Muscle	Psoas
23	chr6:33265400-33268200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:33265400-33268200	Active TSS	Fetal Lung	lung
25	chr6:33265400-33268200	Active TSS	NHDF-Ad	bronchial
26	chr6:33265400-33268400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:33265400-33268400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:33265400-33268400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:33265400-33268400	Active TSS	Esophagus	oesophagus
30	chr6:33265400-33268400	Active TSS	Fetal Intestine Large	intestine
31	chr6:33265600-33268200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:33265600-33268200	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr6:33265600-33268200	Active TSS	Left Ventricle	heart
34	chr6:33265600-33268200	Active TSS	Rectal Smooth Muscle	rectum
35	chr6:33265600-33268200	Active TSS	Right Ventricle	heart
36	chr6:33265600-33268200	Active TSS	A549	lung
37	chr6:33265600-33268200	Bivalent/Poised TSS	HepG2	liver
38	chr6:33265600-33268200	Active TSS	HSMMtube	muscle
39	chr6:33265600-33268200	Active TSS	NHLF	lung
40	chr6:33265600-33268400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:33265600-33268400	Active TSS	NHEK	skin
42	chr6:33265600-33268400	Active TSS	Osteobl	bone
43	chr6:33265600-33268600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:33265600-33268600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:33265600-33268600	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr6:33265600-33268600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr6:33265600-33268800	Active TSS	K562	blood
48	chr6:33266000-33268200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr6:33266000-33268200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:33266000-33268400	Active TSS	Muscle Satellite Cultured Cells	--

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