Variant report

Variant	rs482336
Chromosome Location	chr6:44265806-44265807
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:44264816-44267173	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr6:44263896-44265854	HepG2	liver:	n/a	n/a
3	MAX	chr6:44265322-44265954	H1-hESC	embryonic stem cell:	n/a	n/a
4	MXI1	chr6:44264814-44265878	IMR90	lung:	n/a	n/a
5	POLR2A	chr6:44265359-44266934	HUVEC	blood vessel:	n/a	n/a
6	CTCF	chr6:44265780-44265930	WERI-Rb-1	eye:	n/a	chr6:44265836-44265857
7	POLR2A	chr6:44265334-44266081	GM12891	blood:	n/a	n/a
8	POLR2A	chr6:44265324-44266044	MCF-7	breast:	n/a	n/a
9	CREB1	chr6:44265064-44265879	K562	blood:	n/a	n/a
10	POLR2A	chr6:44265805-44266175	HCT-116	colon:	n/a	n/a
11	POLR2A	chr6:44264802-44266416	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr6:44265386-44266027	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr6:44263937-44267184	K562	blood:	n/a	n/a
14	POLR2A	chr6:44265434-44266967	GM12878	blood:	n/a	n/a
15	POLR2A	chr6:44264697-44266191	PBDE	blood:	n/a	n/a
16	POLR2A	chr6:44265464-44267000	K562	blood:	n/a	n/a
17	BCL3	chr6:44265740-44266088	A549	lung:	n/a	n/a
18	POLR2A	chr6:44265764-44266102	A549	lung:	n/a	n/a
19	POLR2A	chr6:44264001-44266664	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr6:44265073-44266118	K562	blood:	n/a	n/a
21	POLR2A	chr6:44265337-44266334	GM18951	blood:	n/a	n/a
22	POLR2A	chr6:44265214-44266185	HEK293	kidney:	n/a	n/a
23	POLR2A	chr6:44265385-44266422	GM12891	blood:	n/a	n/a
24	REST	chr6:44265062-44265891	H1-neurons	neurons:	n/a	chr6:44265482-44265495
25	POLR2A	chr6:44264628-44266423	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr6:44264477-44266487	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:44264520-44266824	H1-hESC	embryonic stem cell:	n/a	n/a
28	E2F6	chr6:44265274-44265886	H1-hESC	embryonic stem cell:	n/a	chr6:44265698-44265707 chr6:44265438-44265447
29	MAZ	chr6:44264538-44265855	IMR90	lung:	n/a	n/a
30	POLR2A	chr6:44265194-44267200	MCF-7	breast:	n/a	n/a
31	POLR2A	chr6:44263749-44267649	HepG2	liver:	n/a	n/a
32	GABPA	chr6:44265294-44265811	K562	blood:	n/a	chr6:44265434-44265448 chr6:44265437-44265451 chr6:44265485-44265494
33	POLR2A	chr6:44262579-44266712	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr6:44265447-44267463	K562	blood:	n/a	n/a
35	POLR2A	chr6:44265281-44266150	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr6:44265031-44267708	PFSK-1	brain:	n/a	n/a
37	POLR2A	chr6:44265700-44266013	HepG2	liver:	n/a	n/a
38	POLR2A	chr6:44264607-44266228	GM12892	blood:	n/a	n/a
39	MTA3	chr6:44265306-44265860	GM12878	blood:	n/a	n/a
40	HA-E2F1	chr6:44265310-44265844	MCF-7	breast:	n/a	chr6:44265698-44265707 chr6:44265438-44265447
41	POLR2A	chr6:44265113-44266465	K562	blood:	n/a	n/a
42	PML	chr6:44264956-44266145	GM12878	blood:	n/a	n/a
43	POLR2A	chr6:44265467-44266144	GM12892	blood:	n/a	n/a
44	POLR2A	chr6:44264694-44267364	K562	blood:	n/a	n/a
45	POLR2A	chr6:44265253-44266268	PANC-1	pancreas:	n/a	n/a
46	POLR2A	chr6:44265456-44267637	K562	blood:	n/a	n/a
47	SIN3A	chr6:44264716-44265898	H1-hESC	embryonic stem cell:	n/a	chr6:44264909-44264919
48	POLR2A	chr6:44264588-44267786	SK-N-MC	brain:	n/a	n/a
49	POLR2A	chr6:44265806-44266055	GM12878	blood:	n/a	n/a
50	POLR2A	chr6:44263985-44267145	GM12892	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62606512..62609356-chr6:44264959..44266812,2	MCF-7	breast:
2	chr6:44231713..44233466-chr6:44264708..44267385,2	MCF-7	breast:
3	chr6:44250404..44254517-chr6:44264090..44267267,4	MCF-7	breast:
4	chr6:44237771..44241790-chr6:44264717..44266725,3	MCF-7	breast:
5	chr6:44261562..44267016-chr6:44278207..44281216,9	MCF-7	breast:
6	chr6:44223567..44227779-chr6:44264321..44266816,4	MCF-7	breast:
7	chr6:44223709..44226790-chr6:44264741..44266558,3	MCF-7	breast:
8	chr6:44214289..44217035-chr6:44262196..44266038,3	K562	blood:
9	chr6:44215194..44217832-chr6:44265456..44268236,2	K562	blood:
10	chr6:44257360..44259617-chr6:44265641..44268497,2	MCF-7	breast:

No data

Variant related genes	Relation type
TCTE1	TF binding region
ENSG00000146232	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000157593	Chromatin interaction
ENSG00000272442	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000124608	Chromatin interaction
ENSG00000146221	Chromatin interaction
ENSG00000178233	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11571907	1.00[ASN][1000 genomes]
rs11571915	1.00[ASN][1000 genomes]
rs11571917	1.00[ASN][1000 genomes]
rs11571951	1.00[ASN][1000 genomes]
rs11571957	1.00[ASN][1000 genomes]
rs11571998	1.00[ASN][1000 genomes]
rs11572002	1.00[ASN][1000 genomes]
rs11572056	1.00[ASN][1000 genomes]
rs12193699	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1293204	1.00[ASN][1000 genomes]
rs1331293	1.00[ASN][1000 genomes]
rs1411905	1.00[ASN][1000 genomes]
rs161706	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324136	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324141	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs324143	1.00[EUR][1000 genomes]
rs325005	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325006	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325007	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325008	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325009	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325010	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs325011	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35260018	0.96[EUR][1000 genomes]
rs4308546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4499913	0.90[AFR][1000 genomes]
rs4714775	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4714778	1.00[ASN][1000 genomes]
rs484757	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs505617	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs511088	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs534416	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs567192	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568902	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61462867	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs650075	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927345	1.00[ASN][1000 genomes]
rs7740535	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs865027	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9357439	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs9369483	1.00[ASN][1000 genomes]
rs9472241	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9472243	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472244	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
4	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
6	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
7	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44264400-44266000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr6:44264400-44266000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr6:44264400-44266200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:44264400-44266200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:44264600-44266000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:44264600-44266200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr6:44264600-44266200	Bivalent Enhancer	Placenta	Placenta
8	chr6:44264800-44266000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr6:44264800-44266000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
10	chr6:44264800-44266000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:44264800-44266000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:44264800-44266000	Active TSS	Brain Angular Gyrus	brain
13	chr6:44264800-44266000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
14	chr6:44264800-44266000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
15	chr6:44264800-44266000	Enhancers	Spleen	Spleen
16	chr6:44264800-44266200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr6:44264800-44266400	Enhancers	Lung	lung
18	chr6:44265000-44266000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr6:44265000-44266000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:44265000-44266000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
21	chr6:44265000-44266000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
22	chr6:44265000-44266200	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr6:44265000-44266200	Enhancers	Fetal Brain Male	brain
24	chr6:44265000-44268000	Weak transcription	Dnd41	blood
25	chr6:44265000-44269800	Weak transcription	Hela-S3	cervix
26	chr6:44265200-44266000	Enhancers	Fetal Heart	heart
27	chr6:44265200-44266000	Flanking Active TSS	Pancreas	Pancrea
28	chr6:44265200-44266200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:44265200-44266200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:44265200-44266200	Bivalent Enhancer	Fetal Lung	lung
31	chr6:44265400-44266000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:44265400-44266000	Bivalent Enhancer	Primary T cells from cord blood	blood
33	chr6:44265400-44266000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
34	chr6:44265400-44266000	Bivalent Enhancer	NH-A	brain
35	chr6:44265400-44266200	Enhancers	Liver	Liver
36	chr6:44265400-44266200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr6:44265400-44266200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr6:44265400-44266200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
39	chr6:44265400-44266400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr6:44265400-44268000	Weak transcription	Aorta	Aorta
41	chr6:44265600-44266000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
42	chr6:44265600-44266000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:44265600-44266000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:44265600-44266000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
45	chr6:44265600-44266000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:44265600-44266000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:44265600-44266000	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr6:44265600-44266000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
49	chr6:44265600-44266000	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr6:44265600-44266000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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