Variant report

Variant	rs45484591
Chromosome Location	chr6:31918468-31918469
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr6:31915905-31920972	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:31915975-31919697	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr6:31915333-31920952	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:31917630-31918475	HL-60	blood:	n/a	n/a
5	POLR2A	chr6:31915922-31919490	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr6:31918427-31918512	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr6:31917485-31920405	HepG2	liver:	n/a	n/a
8	POLR2A	chr6:31914529-31923123	HepG2	liver:	n/a	n/a
9	POLR2A	chr6:31918394-31919685	K562	blood:	n/a	n/a
10	POLR2A	chr6:31915137-31920435	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr6:31918431-31918701	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr6:31915671-31921101	HepG2	liver:	n/a	n/a
13	POLR2A	chr6:31918036-31918488	HepG2	liver:	n/a	n/a
14	MAFF	chr6:31917943-31918471	HepG2	liver:	n/a	n/a
15	POLR2A	chr6:31916546-31919600	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr6:31917951-31918473	HL-60	blood:	n/a	n/a
17	POLR2A	chr6:31917799-31918489	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:31912538-31923721	HepG2	liver:	n/a	n/a
19	POLR2A	chr6:31917726-31920816	HepG2	liver:	n/a	n/a
20	POLR2A	chr6:31917533-31918470	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr6:31917487-31919068	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr6:31915769-31919475	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr6:31917821-31919876	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr6:31918175-31919157	PANC-1	pancreas:	n/a	n/a
25	POLR2A	chr6:31916029-31919337	K562	blood:	n/a	n/a
26	POLR2A	chr6:31914643-31919725	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31862879..31872535-chr6:31911667..31928766,47	MCF-7	breast:
2	chr6:31864040..31872511-chr6:31917614..31930102,27	MCF-7	breast:
3	chr6:31618645..31621732-chr6:31914935..31918984,4	K562	blood:
4	chr6:31868614..31871551-chr6:31914927..31918494,4	K562	blood:
5	chr6:31793907..31797035-chr6:31916814..31918857,3	K562	blood:
6	chr6:31864770..31867210-chr6:31916768..31918647,2	K562	blood:
7	chr6:31795117..31796771-chr6:31916814..31918698,2	K562	blood:
8	chr6:31864115..31868338-chr6:31917147..31921993,5	K562	blood:

No data

Variant related genes	Relation type
CFB	TF binding region
ENSG00000204463	Chromatin interaction
ENSG00000204388	Chromatin interaction
ENSG00000204366	Chromatin interaction
ENSG00000166278	Chromatin interaction
ENSG00000204371	Chromatin interaction
ENSG00000204444	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17201192	1.00[ASN][1000 genomes]
rs17201403	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55932544	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56061694	1.00[ASN][1000 genomes]
rs56103300	1.00[ASN][1000 genomes]
rs56119517	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56188416	1.00[ASN][1000 genomes]
rs56192194	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56229298	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61740977	1.00[ASN][1000 genomes]
rs915653	1.00[ASN][1000 genomes]
rs9332704	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461728	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469058	1.00[ASN][1000 genomes]
rs9469063	1.00[ASN][1000 genomes]
rs9469068	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9501158	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9501159	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9501160	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
2	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
3	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
4	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
5	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
6	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
7	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
8	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
9	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
10	nsv601950	chr6:31785438-32492308	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
11	nsv601951	chr6:31785438-32496748	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
12	nsv601955	chr6:31785453-32484368	Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
13	nsv601956	chr6:31785453-32492308	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
14	nsv601961	chr6:31868322-32484368	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS 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	126 gene(s)	inside rSNPs	diseases
15	nsv427751	chr6:31871512-32092843	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
16	nsv428141	chr6:31871512-32092843	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
17	esv2758043	chr6:31871512-32209113	Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
18	esv2759415	chr6:31871512-32209113	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
19	nsv830628	chr6:31887554-31947600	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
20	nsv933250	chr6:31905060-32008005	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS 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	76 gene(s)	inside rSNPs	diseases
21	nsv934279	chr6:31905060-32013902	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
22	nsv884512	chr6:31908470-31933161	Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31908200-31918600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:31908800-31919400	Weak transcription	Ovary	ovary
3	chr6:31909200-31918800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr6:31913000-31918600	Weak transcription	Brain Hippocampus Middle	brain
5	chr6:31913200-31920800	Weak transcription	Small Intestine	intestine
6	chr6:31913600-31918600	Weak transcription	Brain Angular Gyrus	brain
7	chr6:31913600-31919000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr6:31913800-31918800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:31913800-31919400	Weak transcription	GM12878-XiMat	blood
10	chr6:31914200-31918600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:31914200-31919000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:31914200-31919000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:31914200-31919200	Weak transcription	Aorta	Aorta
14	chr6:31914200-31919200	Weak transcription	HUVEC	blood vessel
15	chr6:31914200-31919400	Weak transcription	Left Ventricle	heart
16	chr6:31914200-31919600	Weak transcription	HSMMtube	muscle
17	chr6:31914200-31926000	Weak transcription	Right Atrium	heart
18	chr6:31914400-31918600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:31914400-31918800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:31914400-31918800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:31914400-31919000	Weak transcription	Colon Smooth Muscle	Colon
22	chr6:31914400-31919200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr6:31914600-31918600	Weak transcription	Brain Anterior Caudate	brain
24	chr6:31914600-31918800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr6:31914600-31919000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr6:31914600-31919000	Weak transcription	Right Ventricle	heart
27	chr6:31914600-31919200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:31914600-31919400	Weak transcription	HMEC	breast
29	chr6:31914800-31918800	Weak transcription	Colonic Mucosa	Colon
30	chr6:31914800-31919200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:31914800-31919400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr6:31914800-31922400	Weak transcription	Stomach Mucosa	stomach
33	chr6:31915000-31918800	Weak transcription	Fetal Brain Female	brain
34	chr6:31915200-31918800	Weak transcription	Esophagus	oesophagus
35	chr6:31915400-31918600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr6:31915400-31919200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr6:31915600-31918600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr6:31915800-31918800	Weak transcription	Primary B cells from cord blood	blood
39	chr6:31915800-31919000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:31916200-31918600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:31916200-31918600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr6:31916200-31918600	Weak transcription	Thymus	Thymus
43	chr6:31916200-31918800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr6:31916200-31919400	Weak transcription	Dnd41	blood
45	chr6:31916400-31918600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr6:31916400-31918600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr6:31916600-31919000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr6:31916600-31919200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr6:31916800-31918800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr6:31916800-31919200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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