Variant report

Variant	rs35541316
Chromosome Location	chr5:43064189-43064190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:43063861-43064493	K562	blood:	n/a	n/a
2	POLR2A	chr5:43063699-43068095	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr5:43064001-43064266	MCF-7	breast:	n/a	n/a
4	EP300	chr5:43063750-43064415	A549	lung:	n/a	n/a
5	HEY1	chr5:43063742-43064317	K562	blood:	n/a	n/a
6	MAX	chr5:43063635-43064385	K562	blood:	n/a	n/a
7	POLR2A	chr5:43063878-43064339	NB4	blood:	n/a	n/a
8	NR2F2	chr5:43063620-43064419	K562	blood:	n/a	n/a
9	FOXA2	chr5:43063919-43064489	A549	lung:	n/a	n/a
10	TEAD4	chr5:43063918-43064537	A549	lung:	n/a	n/a
11	POLR2A	chr5:43063770-43064417	K562	blood:	n/a	n/a
12	IRF1	chr5:43063863-43064315	K562	blood:	n/a	n/a
13	MYC	chr5:43063740-43064343	K562	blood:	n/a	n/a
14	NR3C1	chr5:43063777-43064288	A549	lung:	n/a	n/a
15	MAX	chr5:43063827-43064274	K562	blood:	n/a	n/a
16	TCF12	chr5:43063710-43067869	A549	lung:	n/a	n/a
17	E2F6	chr5:43064015-43064252	K562	blood:	n/a	n/a
18	UBTF	chr5:43063900-43064235	K562	blood:	n/a	n/a
19	POLR2A	chr5:43063602-43064523	HL-60	blood:	n/a	n/a
20	CEBPB	chr5:43064063-43064219	K562	blood:	n/a	n/a
21	POLR2A	chr5:43063968-43067900	K562	blood:	n/a	n/a
22	POLR2A	chr5:43063757-43064341	K562	blood:	n/a	n/a
23	RFX5	chr5:43064160-43064283	K562	blood:	n/a	n/a
24	JUND	chr5:43063752-43064377	K562	blood:	n/a	n/a
25	POLR2A	chr5:43063423-43067967	PANC-1	pancreas:	n/a	n/a
26	POLR2A	chr5:43063697-43064492	K562	blood:	n/a	n/a
27	SP1	chr5:43063748-43064444	A549	lung:	n/a	n/a
28	MAX	chr5:43063599-43064508	A549	lung:	n/a	n/a
29	POLR2A	chr5:43063771-43064235	A549	lung:	n/a	n/a
30	POLR2A	chr5:43063770-43064226	A549	lung:	n/a	n/a
31	TBP	chr5:43063866-43064349	K562	blood:	n/a	n/a
32	MAFF	chr5:43063964-43064299	K562	blood:	n/a	n/a
33	YY1	chr5:43064082-43064409	A549	lung:	n/a	n/a
34	POLR2A	chr5:43063807-43064227	A549	lung:	n/a	n/a
35	POLR2A	chr5:43063735-43065390	K562	blood:	n/a	n/a
36	GTF2F1	chr5:43064150-43064192	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr5:43064137-43068747	MCF10A-Er-Src	breast:	n/a	n/a
38	EP300	chr5:43063755-43064381	A549	lung:	n/a	n/a
39	POLR2A	chr5:43063818-43065316	K562	blood:	n/a	n/a
40	JUN	chr5:43063355-43069087	K562	blood:	n/a	chr5:43065126-43065140
41	MAX	chr5:43064002-43064287	K562	blood:	n/a	n/a
42	RCOR1	chr5:43063903-43064311	K562	blood:	n/a	n/a
43	MAFK	chr5:43063927-43064251	K562	blood:	n/a	n/a
44	TEAD4	chr5:43063699-43064429	K562	blood:	n/a	n/a
45	TEAD4	chr5:43064002-43064388	K562	blood:	n/a	n/a
46	GTF2B	chr5:43064058-43064248	K562	blood:	n/a	n/a
47	POLR2A	chr5:43063981-43067998	HepG2	liver:	n/a	n/a
48	TBP	chr5:43063796-43064236	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr5:43063853-43064240	A549	lung:	n/a	n/a
50	MAX	chr5:43063811-43064364	NB4	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43062770..43067811-chr5:43482181..43486392,9	K562	blood:
2	chr5:43062052..43069089-chr5:43119705..43123366,12	MCF-7	breast:
3	chr5:43063931..43068016-chr5:43554200..43557480,3	K562	blood:
4	chr5:43037720..43044659-chr5:43062293..43069444,31	K562	blood:
5	chr5:43062602..43064371-chr5:43120154..43123764,3	MCF-7	breast:
6	chr5:43035327..43037045-chr5:43062681..43064782,2	MCF-7	breast:
7	chr5:43063463..43067998-chr5:43119333..43125586,12	K562	blood:
8	chr5:43038662..43048059-chr5:43059399..43070773,40	MCF-7	breast:
9	chr5:43006860..43010287-chr5:43063692..43067440,8	K562	blood:
10	chr5:43036901..43050217-chr5:43060442..43069391,53	MCF-7	breast:
11	chr5:43005189..43014948-chr5:43062554..43069130,17	MCF-7	breast:
12	chr5:43063723..43068505-chr5:43119531..43125230,17	K562	blood:
13	chr5:43006765..43010626-chr5:43063692..43068627,9	K562	blood:
14	chr5:43045206..43050609-chr5:43062079..43064977,5	K562	blood:
15	chr5:43015093..43022227-chr5:43063428..43069370,31	MCF-7	breast:
16	chr5:43006162..43011722-chr5:43063736..43068779,9	MCF-7	breast:
17	chr5:43034726..43053192-chr5:43061725..43074206,66	K562	blood:

No data

Variant related genes	Relation type
ZNF131	TF binding region
ENSG00000271788	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000215068	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000177721	Chromatin interaction
ENSG00000251131	Chromatin interaction
ENSG00000151881	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1032434	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10454865	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10941607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10941608	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11550285	0.92[ASN][1000 genomes]
rs11550286	0.93[ASN][1000 genomes]
rs11550287	0.93[ASN][1000 genomes]
rs11740797	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11742691	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11743246	0.80[ASN][1000 genomes]
rs11747015	0.80[AMR][1000 genomes]
rs11748187	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11750239	0.81[ASN][1000 genomes]
rs11949817	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11954543	0.80[ASN][1000 genomes]
rs11956243	0.93[ASN][1000 genomes]
rs12188691	0.82[ASN][1000 genomes]
rs13155513	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13159703	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13165504	0.82[ASN][1000 genomes]
rs13169563	0.98[ASN][1000 genomes]
rs13173064	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17301375	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2452831	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316398	0.82[ASN][1000 genomes]
rs316405	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316409	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316410	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316411	0.91[ASN][1000 genomes]
rs316418	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3207358	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34087147	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs34315422	0.95[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs34492794	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs34670023	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34808919	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34859360	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35085573	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs36039989	0.93[ASN][1000 genomes]
rs36083302	0.95[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs3733839	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3797312	0.80[ASN][1000 genomes]
rs3849698	0.80[ASN][1000 genomes]
rs3849699	0.82[ASN][1000 genomes]
rs493097	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504404	0.88[ASN][1000 genomes]
rs55939188	0.83[AMR][1000 genomes]
rs56169202	0.82[ASN][1000 genomes]
rs581914	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62367685	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs62367688	0.96[ASN][1000 genomes]
rs62372869	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs670206	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6864223	0.93[ASN][1000 genomes]
rs7709181	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7729529	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9790935	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
8	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
9	nsv870299	chr5:43053679-43107880	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35541316	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43044800-43064200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr5:43044800-43064400	Weak transcription	Brain Substantia Nigra	brain
3	chr5:43045000-43064200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr5:43045000-43064400	Weak transcription	Esophagus	oesophagus
5	chr5:43045400-43064200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr5:43045400-43066000	Weak transcription	Spleen	Spleen
7	chr5:43048200-43064200	Weak transcription	Psoas Muscle	Psoas
8	chr5:43049800-43064400	Weak transcription	Fetal Lung	lung
9	chr5:43051400-43064400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr5:43051600-43064600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:43053600-43064600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:43059200-43064600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:43061000-43064400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:43061200-43064200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:43061800-43064400	Weak transcription	Fetal Intestine Large	intestine
16	chr5:43062400-43064400	Weak transcription	Liver	Liver
17	chr5:43063600-43064400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:43063600-43064400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:43063600-43064400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:43063600-43064400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr5:43063600-43064400	Enhancers	NHDF-Ad	bronchial
22	chr5:43063600-43064600	Enhancers	NHLF	lung
23	chr5:43063600-43065000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:43063600-43068200	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr5:43063800-43064200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
26	chr5:43063800-43064200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr5:43063800-43064200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:43063800-43064200	Enhancers	Fetal Kidney	kidney
29	chr5:43063800-43064400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr5:43063800-43064400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:43063800-43064400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr5:43063800-43064400	Enhancers	Primary T cells fromperipheralblood	blood
33	chr5:43063800-43064400	Enhancers	Primary hematopoietic stem cells	blood
34	chr5:43063800-43064400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr5:43063800-43064400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr5:43063800-43064400	Enhancers	Adipose Nuclei	Adipose
37	chr5:43063800-43064400	Enhancers	Aorta	Aorta
38	chr5:43063800-43064400	Enhancers	Brain Germinal Matrix	brain
39	chr5:43063800-43064400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr5:43063800-43064400	Enhancers	Fetal Muscle Trunk	muscle
41	chr5:43063800-43064400	Enhancers	Placenta	Placenta
42	chr5:43063800-43064400	Enhancers	Fetal Thymus	thymus
43	chr5:43063800-43064400	Enhancers	Thymus	Thymus
44	chr5:43063800-43064400	Enhancers	HSMM	muscle
45	chr5:43063800-43064400	Enhancers	HSMMtube	muscle
46	chr5:43063800-43064400	Enhancers	NH-A	brain
47	chr5:43063800-43064600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr5:43063800-43064600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:43063800-43064600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:43063800-43064600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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