Variant report

Variant	rs34967469
Chromosome Location	chr5:43009135-43009136
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:148)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:148 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr5:43008836-43009145	K562	blood:	n/a	chr5:43009071-43009085
2	SIX5	chr5:43007791-43009153	A549	lung:	n/a	n/a
3	MXI1	chr5:43007595-43010060	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr5:43007544-43009843	GM12878	blood:	n/a	n/a
5	POLR2A	chr5:43007479-43009782	IMR90	lung:	n/a	n/a
6	POLR2A	chr5:43007338-43010590	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr5:43009129-43010153	SK-N-SH	brain:	n/a	n/a
8	JUND	chr5:43007496-43009547	K562	blood:	n/a	chr5:43007667-43007675 chr5:43009342-43009349 chr5:43007667-43007675 chr5:43007667-43007674 chr5:43007665-43007676
9	MAX	chr5:43007456-43010047	Hela-S3	cervix:	n/a	n/a
10	MYC	chr5:43007520-43009400	K562	blood:	n/a	n/a
11	RFX5	chr5:43007460-43010092	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr5:43007368-43009204	SK-N-MC	brain:	n/a	n/a
13	MYC	chr5:43007402-43011171	NB4	blood:	n/a	n/a
14	POLR2A	chr5:43007525-43010794	NB4	blood:	n/a	n/a
15	CUX1	chr5:43008819-43009573	GM12878	blood:	n/a	n/a
16	POLR2A	chr5:43007400-43010832	GM12878	blood:	n/a	n/a
17	MAFF	chr5:43008648-43009473	K562	blood:	n/a	chr5:43008841-43008859
18	ATF2	chr5:43007386-43009807	GM12878	blood:	n/a	n/a
19	POLR2A	chr5:43009095-43009996	GM12891	blood:	n/a	n/a
20	SMARCB1	chr5:43007281-43009916	Hela-S3	cervix:	n/a	n/a
21	TCF12	chr5:43007195-43009876	A549	lung:	n/a	n/a
22	POLR2A	chr5:43007388-43009806	GM12891	blood:	n/a	n/a
23	CEBPB	chr5:43007613-43010152	IMR90	lung:	n/a	chr5:43008518-43008529
24	RELA	chr5:43007580-43010082	GM15510	blood:	n/a	n/a
25	POLR2A	chr5:43007337-43010908	GM18526	blood:	n/a	n/a
26	POLR2A	chr5:43007364-43011130	GM19099	blood:	n/a	n/a
27	POLR2A	chr5:43007407-43011245	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr5:43007514-43009981	K562	blood:	n/a	n/a
29	POLR2A	chr5:43007481-43010091	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr5:43007245-43009936	HUVEC	blood vessel:	n/a	n/a
31	ATF2	chr5:43007968-43009724	GM12878	blood:	n/a	n/a
32	RELA	chr5:43007501-43011195	GM12891	blood:	n/a	n/a
33	POLR2A	chr5:43007427-43009135	PFSK-1	brain:	n/a	n/a
34	ELF1	chr5:43008510-43009177	MCF-7	breast:	n/a	n/a
35	POLR2A	chr5:43007367-43010979	GM12892	blood:	n/a	n/a
36	CUX1	chr5:43008732-43009548	K562	blood:	n/a	n/a
37	BHLHE40	chr5:43007410-43009302	K562	blood:	n/a	n/a
38	POLR2A	chr5:43007479-43009257	K562	blood:	n/a	n/a
39	ARID3A	chr5:43008609-43009694	HepG2	liver:	n/a	chr5:43009437-43009453
40	SMARCC1	chr5:43007370-43010378	Hela-S3	cervix:	n/a	n/a
41	STAT3	chr5:43007718-43010316	GM12878	blood:	n/a	chr5:43009001-43009013 chr5:43009578-43009589 chr5:43009254-43009262
42	MAX	chr5:43007422-43010109	NB4	blood:	n/a	n/a
43	MAZ	chr5:43007592-43010214	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr5:43007275-43011089	GM12892	blood:	n/a	n/a
45	POLR2A	chr5:43007327-43009146	MCF-7	breast:	n/a	n/a
46	HCFC1	chr5:43007569-43009361	K562	blood:	n/a	n/a
47	USF2	chr5:43007635-43010075	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr5:43007557-43009268	K562	blood:	n/a	n/a
49	POLR2A	chr5:43009124-43010381	GM12892	blood:	n/a	n/a
50	MTA3	chr5:43007462-43009311	GM12878	blood:	n/a	n/a

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43007547..43009866-chr5:43041551..43043821,3	MCF-7	breast:
2	chr5:42908654..42910895-chr5:43006900..43010047,5	MCF-7	breast:
3	chr5:43008402..43009658-chr5:43064918..43066427,5	Hela-S3	cervix:
4	chr5:42996039..42998077-chr5:43007869..43010510,2	MCF-7	breast:
5	chr5:43006860..43010287-chr5:43063692..43067440,8	K562	blood:
6	chr5:43008745..43011043-chr5:43025523..43027908,2	K562	blood:
7	chr5:42976709..42979278-chr5:43008290..43010781,3	K562	blood:
8	chr5:43006330..43010322-chr5:43119527..43123237,8	MCF-7	breast:
9	chr5:43005892..43011349-chr5:43037590..43043804,20	K562	blood:
10	chr19:17970709..17971342-chr5:43008813..43009354,2	Hela-S3	cervix:
11	chr5:42928813..42931600-chr5:43007922..43010335,2	MCF-7	breast:
12	chr5:43006162..43011722-chr5:43063736..43068779,9	MCF-7	breast:
13	chr5:43007851..43010366-chr5:43021276..43023527,2	K562	blood:
14	chr5:42912159..42915403-chr5:43007665..43011079,4	MCF-7	breast:
15	chr5:43006524..43009170-chr5:43481827..43484461,4	K562	blood:
16	chr5:43008478..43012422-chr5:43036002..43039064,3	MCF-7	breast:
17	chr5:43006765..43010626-chr5:43063692..43068627,9	K562	blood:
18	chr5:43005189..43014948-chr5:43062554..43069130,17	MCF-7	breast:
19	chr5:42911324..42913004-chr5:43008845..43010689,2	K562	blood:
20	chr5:43007396..43009600-chr5:43120111..43123066,2	K562	blood:
21	chr5:42908870..42911135-chr5:43009033..43010803,2	K562	blood:
22	chr5:43008295..43011216-chr5:43016929..43019962,5	K562	blood:
23	chr5:43006939..43009143-chr5:43119919..43122235,2	K562	blood:
24	chr5:43005322..43013124-chr5:43037748..43043287,15	K562	blood:
25	chr5:43006142..43009170-chr5:43482864..43485007,3	K562	blood:
26	chr16:46865030..46866009-chr5:43008664..43009315,2	Hela-S3	cervix:
27	chr5:43007330..43009530-chr5:43039640..43043303,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000271788	TF binding region
ENSG00000251131	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000155330	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000105640	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000215068	Chromatin interaction
ENSG00000177721	Chromatin interaction
ENSG00000251656	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1084520	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11550288	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13156403	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13156729	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13158147	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13167375	1.00[ASN][1000 genomes]
rs13167991	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13170322	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13170959	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171192	1.00[ASN][1000 genomes]
rs13174226	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13175754	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13176080	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13180496	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13186091	1.00[ASN][1000 genomes]
rs2085100	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34157680	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34215864	1.00[ASN][1000 genomes]
rs34345245	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34517361	1.00[ASN][1000 genomes]
rs34735159	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34922908	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35030460	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35197809	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35322710	1.00[ASN][1000 genomes]
rs35334781	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35484387	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35594379	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35756781	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36048737	1.00[ASN][1000 genomes]
rs36122053	1.00[ASN][1000 genomes]
rs505573	1.00[ASN][1000 genomes]
rs614386	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632730	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71627567	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71627568	0.88[AMR][1000 genomes];0.97[EUR][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	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
7	nsv1029288	chr5:42928085-43047323	Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	120 gene(s)	inside rSNPs	diseases
8	nsv968169	chr5:42956713-43043472	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	116 gene(s)	inside rSNPs	diseases
9	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
10	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
11	nsv880447	chr5:42967215-43030798	Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
12	nsv881640	chr5:42978644-43028221	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
13	nsv880415	chr5:42978644-43030798	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34967469	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43007000-43009800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:43007200-43009200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr5:43007200-43009400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
4	chr5:43007200-43009600	Active TSS	HSMMtube	muscle
5	chr5:43007200-43009800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:43007200-43010000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
7	chr5:43007200-43010000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
8	chr5:43007200-43010200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:43007200-43010200	Bivalent/Poised TSS	Left Ventricle	heart
10	chr5:43007200-43010400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
11	chr5:43007200-43010800	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr5:43007400-43009200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr5:43007400-43009200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:43007400-43009400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:43007400-43009400	Active TSS	Aorta	Aorta
16	chr5:43007400-43009600	Bivalent/Poised TSS	Fetal Kidney	kidney
17	chr5:43007400-43009800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:43007400-43009800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
19	chr5:43007400-43009800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
20	chr5:43007400-43009800	Active TSS	Ovary	ovary
21	chr5:43007400-43010000	Bivalent/Poised TSS	Liver	Liver
22	chr5:43007400-43010000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
23	chr5:43007400-43010000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
24	chr5:43007400-43010000	Active TSS	Esophagus	oesophagus
25	chr5:43007400-43010200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
26	chr5:43007400-43010400	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr5:43007400-43010600	Bivalent/Poised TSS	Psoas Muscle	Psoas
28	chr5:43007400-43010800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:43007600-43009600	Active TSS	Monocytes-CD14+_RO01746	blood
30	chr5:43007600-43009800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
31	chr5:43007600-43009800	Active TSS	NHDF-Ad	bronchial
32	chr5:43007600-43010000	Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr5:43007600-43010000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:43007600-43010000	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr5:43007600-43010000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:43007600-43010000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
37	chr5:43007600-43010000	Active TSS	Thymus	Thymus
38	chr5:43007800-43009200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:43007800-43009600	Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr5:43007800-43009600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:43007800-43009800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:43007800-43009800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr5:43007800-43009800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:43007800-43009800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
45	chr5:43007800-43009800	Active TSS	A549	lung
46	chr5:43007800-43009800	Active TSS	Dnd41	blood
47	chr5:43007800-43009800	Active TSS	GM12878-XiMat	blood
48	chr5:43007800-43009800	Active TSS	HSMM	muscle
49	chr5:43007800-43009800	Active TSS	Osteobl	bone
50	chr5:43007800-43010000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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