Variant report

Variant	rs36106080
Chromosome Location	chr5:43192251-43192252
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NRF1	chr5:43192231-43192361	GM12878	blood:	n/a	n/a
2	PAX5	chr5:43192093-43192558	GM12892	blood:	n/a	n/a
3	MAX	chr5:43192122-43193165	MCF-7	breast:	n/a	chr5:43192735-43192745 chr5:43192150-43192160
4	MAX	chr5:43191797-43192566	H1-hESC	embryonic stem cell:	n/a	chr5:43192150-43192160
5	MAX	chr5:43192245-43192439	GM12878	blood:	n/a	n/a
6	MAX	chr5:43191885-43193196	ECC-1	luminal epithelium:	n/a	chr5:43192735-43192745 chr5:43192150-43192160
7	MXI1	chr5:43191620-43194505	SK-N-SH	brain:	n/a	chr5:43193906-43193921 chr5:43193904-43193919
8	POLR2A	chr5:43191784-43193105	H1-neurons	neurons:	n/a	n/a
9	MAX	chr5:43191918-43193210	ECC-1	luminal epithelium:	n/a	chr5:43192735-43192745 chr5:43192150-43192160
10	BHLHE40	chr5:43191834-43192311	HepG2	liver:	n/a	n/a
11	BHLHE40	chr5:43191774-43192257	GM12878	blood:	n/a	n/a
12	CREB1	chr5:43192066-43192355	A549	lung:	n/a	n/a
13	ZNF143	chr5:43191825-43192277	GM12878	blood:	n/a	n/a
14	MXI1	chr5:43191696-43194765	IMR90	lung:	n/a	chr5:43193906-43193921 chr5:43193904-43193919
15	RELA	chr5:43191705-43192295	GM12891	blood:	n/a	n/a
16	REST	chr5:43191849-43194301	H1-neurons	neurons:	n/a	n/a
17	SIN3AK20	chr5:43192220-43192589	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr5:43192190-43192467	K562	blood:	n/a	n/a
19	ELF1	chr5:43191848-43193143	GM12878	blood:	n/a	n/a
20	MXI1	chr5:43191809-43192466	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr5:43192232-43193407	A549	lung:	n/a	chr5:43192735-43192745
22	POLR2A	chr5:43192211-43192619	GM12892	blood:	n/a	n/a
23	NFYB	chr5:43192055-43192468	GM12878	blood:	n/a	n/a
24	MAX	chr5:43192116-43193993	A549	lung:	n/a	chr5:43193906-43193915 chr5:43193822-43193831 chr5:43192735-43192745 chr5:43193674-43193684 chr5:43192150-43192160
25	POLR2A	chr5:43192229-43192545	GM12891	blood:	n/a	n/a
26	SIN3AK20	chr5:43192122-43192499	SK-N-SH	brain:	n/a	n/a
27	ZNF263	chr5:43191970-43193691	HEK293-T-REx	kidney:	n/a	chr5:43192609-43192618 chr5:43192595-43192604
28	ZBTB7A	chr5:43191906-43192794	ECC-1	luminal epithelium:	n/a	n/a
29	MAZ	chr5:43191973-43192378	HepG2	liver:	n/a	chr5:43192150-43192160
30	REST	chr5:43191854-43193061	U87	brain:	n/a	n/a
31	POLR2A	chr5:43191862-43193149	H1-neurons	neurons:	n/a	n/a
32	YY1	chr5:43192016-43192529	GM12892	blood:	n/a	n/a
33	REST	chr5:43191965-43192560	SK-N-SH	brain:	n/a	n/a
34	REST	chr5:43191962-43192422	ECC-1	luminal epithelium:	n/a	n/a
35	MAZ	chr5:43191836-43192437	GM12878	blood:	n/a	chr5:43192150-43192160
36	SIN3A	chr5:43191680-43194305	H1-hESC	embryonic stem cell:	n/a	n/a
37	SIN3AK20	chr5:43191672-43192540	H1-hESC	embryonic stem cell:	n/a	n/a
38	ZBTB7A	chr5:43191845-43192796	ECC-1	luminal epithelium:	n/a	n/a
39	CTBP2	chr5:43191763-43193522	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:43192240-43192290	SK-N-SH	brain:	n/a
2	chr5:43192240-43192290	HCPEpiC	choroid plexus:	n/a
3	chr5:43192240-43192290	PrEC	prostate:	n/a
4	chr5:43192240-43192290	U87	brain:	n/a
5	chr5:43192240-43192290	HRE	kidney:	n/a
6	chr5:43192240-43192290	ovcar-3	ovarian:	n/a
7	chr5:43192240-43192290	AG04449	skin:	fetal
8	chr5:43192240-43192290	HUVEC	blood vessel:	n/a
9	chr5:43192240-43192290	NHBE	bronchial:	n/a
10	chr5:43192240-43192290	Hepatocyte	liver:	n/a
11	chr5:43192240-43192290	BE2_C	brain:	n/a
12	chr5:43192240-43192290	RPTEC	kidney:	n/a
13	chr5:43192240-43192290	K562	blood:	n/a
14	chr5:43192240-43192290	MCF-7	breast:	n/a
15	chr5:43192240-43192290	CMK	blood:	n/a
16	chr5:43192240-43192290	AoSMC	blood vessel:	n/a
17	chr5:43192240-43192290	Hela-S3	cervix:	n/a
18	chr5:43192240-43192290	Caco-2	colon:	n/a
19	chr5:43192240-43192290	AG04450	lung:	fetal
20	chr5:43192240-43192290	H1-hESC	embryonic stem cell:	embryo
21	chr5:43192240-43192290	HPAEpiC	pulmonary alveolar:	n/a
22	chr5:43192240-43192290	LNCaP	prostate:	n/a
23	chr5:43192240-43192290	SK-N-MC	brain:	n/a
24	chr5:43192240-43192290	SAEC	small airway:	n/a
25	chr5:43192240-43192290	AG09309	skin:	n/a
26	chr5:43192240-43192290	HNPCEpiC	eye:	n/a
27	chr5:43192240-43192290	HCF	heart:	n/a
28	chr5:43192240-43192290	A549	lung:	n/a
29	chr5:43192240-43192290	PANC-1	pancreas:	n/a
30	chr5:43192240-43192290	ProgFib	skin:	n/a
31	chr5:43192240-43192290	HIPEpiC	eye:	n/a
32	chr5:43192240-43192290	AG10803	skin:	n/a
33	chr5:43192240-43192290	NHDF-neo	bronchial:	n/a
34	chr5:43192240-43192290	PFSK-1	brain:	n/a
35	chr5:43192240-43192290	HCM	heart:	n/a
36	chr5:43192240-43192290	ECC-1	luminal epithelium:	n/a
37	chr5:43192240-43192290	SKMC	muscle:	n/a
38	chr5:43192240-43192290	HMEC	breast:	n/a
39	chr5:43192240-43192290	Jurkat	blood:	n/a
40	chr5:43192240-43192290	T-47D	breast:	n/a
41	chr5:43192240-43192290	MCF10A-Er-Src	breast:	n/a
42	chr5:43192240-43192290	IMR90	lung:	fetal
43	chr5:43192240-43192290	NB4	blood:	n/a
44	chr5:43192240-43192290	NH-A	brain:	n/a
45	chr5:43192240-43192290	HRCEpiC	kidney:	n/a
46	chr5:43192240-43192290	HepG2	liver:	n/a
47	chr5:43192240-43192290	GM06990	blood:	n/a
48	chr5:43192240-43192290	HAEpiC	amniotic membrane:	n/a
49	chr5:43192240-43192290	AG09319	gingival:	n/a
50	chr5:43192240-43192290	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43192100..43194083-chr5:43481713..43484639,2	MCF-7	breast:
2	chr5:43191118..43192645-chr5:43192728..43194544,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC114947.1.1-3	chr5:43192173-43192513	NONHSAT101299

No data

Variant related genes	Relation type
NIM1K	TF binding region
NIM1K	CpG island
ENSG00000177453	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000151881	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs1001717	0.92[EUR][1000 genomes]
rs12657208	0.90[EUR][1000 genomes]
rs13153077	0.97[EUR][1000 genomes]
rs13153860	0.97[EUR][1000 genomes]
rs13154654	0.86[EUR][1000 genomes]
rs13158800	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13159390	0.92[EUR][1000 genomes]
rs13161127	0.91[EUR][1000 genomes]
rs13163892	0.97[EUR][1000 genomes]
rs13164183	0.97[EUR][1000 genomes]
rs13166780	0.91[EUR][1000 genomes]
rs13167375	0.85[EUR][1000 genomes]
rs13167690	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171192	0.86[EUR][1000 genomes]
rs13171253	0.91[EUR][1000 genomes]
rs13172378	0.91[EUR][1000 genomes]
rs13174772	0.92[EUR][1000 genomes]
rs13178478	0.97[EUR][1000 genomes]
rs13181290	0.91[EUR][1000 genomes]
rs13186091	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13186549	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13189565	0.95[EUR][1000 genomes]
rs13189574	0.91[EUR][1000 genomes]
rs13190109	0.97[EUR][1000 genomes]
rs16873177	0.91[EUR][1000 genomes]
rs17242731	0.92[EUR][1000 genomes]
rs17242995	0.91[EUR][1000 genomes]
rs17243023	0.91[EUR][1000 genomes]
rs17243086	0.91[EUR][1000 genomes]
rs17243165	0.85[EUR][1000 genomes]
rs17243515	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17302596	0.91[EUR][1000 genomes]
rs17302931	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2005510	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28548198	0.92[EUR][1000 genomes]
rs34071473	0.91[EUR][1000 genomes]
rs34205479	0.91[EUR][1000 genomes]
rs34242142	0.97[EUR][1000 genomes]
rs34258100	0.97[EUR][1000 genomes]
rs34302880	0.89[EUR][1000 genomes]
rs34333393	0.91[EUR][1000 genomes]
rs34375419	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34448278	0.97[EUR][1000 genomes]
rs34517361	0.85[EUR][1000 genomes]
rs34552214	0.91[EUR][1000 genomes]
rs34973629	0.91[EUR][1000 genomes]
rs34992478	0.91[EUR][1000 genomes]
rs35018789	0.91[EUR][1000 genomes]
rs35106307	0.97[EUR][1000 genomes]
rs35199583	0.92[EUR][1000 genomes]
rs35230086	0.91[EUR][1000 genomes]
rs35285338	0.97[EUR][1000 genomes]
rs35321959	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35397154	0.97[EUR][1000 genomes]
rs35484826	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35593061	0.95[EUR][1000 genomes]
rs35645372	0.97[EUR][1000 genomes]
rs35665483	0.90[EUR][1000 genomes]
rs35673052	0.97[EUR][1000 genomes]
rs35754881	0.92[EUR][1000 genomes]
rs35759340	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35837951	1.00[ASN][1000 genomes]
rs35839054	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35855029	0.97[EUR][1000 genomes]
rs35859204	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35949944	0.91[EUR][1000 genomes]
rs35998500	0.91[EUR][1000 genomes]
rs36054188	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36122541	0.91[EUR][1000 genomes]
rs36125638	0.96[EUR][1000 genomes]
rs3752831	0.97[EUR][1000 genomes]
rs3752832	0.97[EUR][1000 genomes]
rs3797306	0.92[EUR][1000 genomes]
rs3797307	0.92[EUR][1000 genomes]
rs3797308	0.92[EUR][1000 genomes]
rs3797309	0.92[EUR][1000 genomes]
rs56889091	0.97[EUR][1000 genomes]
rs56923657	0.90[EUR][1000 genomes]
rs58028166	1.00[EUR][1000 genomes]
rs67190423	0.91[EUR][1000 genomes]
rs67596313	0.92[EUR][1000 genomes]
rs67756718	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71590635	0.91[EUR][1000 genomes]
rs71627575	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71627578	0.91[EUR][1000 genomes]
rs71627579	0.91[EUR][1000 genomes]
rs71627580	0.91[EUR][1000 genomes]
rs71627583	0.90[EUR][1000 genomes]
rs71627584	0.91[EUR][1000 genomes]
rs71627585	0.97[EUR][1000 genomes]
rs71627586	0.97[EUR][1000 genomes]
rs71627587	0.99[EUR][1000 genomes]
rs72748883	0.92[EUR][1000 genomes]
rs72748886	0.83[EUR][1000 genomes]
rs72748897	0.92[EUR][1000 genomes]
rs72750704	0.92[EUR][1000 genomes]
rs72750764	0.92[EUR][1000 genomes]
rs72750780	0.91[EUR][1000 genomes]
rs878234	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
7	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
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs36106080	ZNF131	cis	Artery Tibial	GTEx
rs36106080	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43178000-43193200	Weak transcription	Hela-S3	cervix
2	chr5:43190200-43193200	Enhancers	Fetal Heart	heart
3	chr5:43191000-43193800	Active TSS	Brain Cingulate Gyrus	brain
4	chr5:43191000-43194200	Active TSS	Brain Anterior Caudate	brain
5	chr5:43191200-43194200	Active TSS	NHDF-Ad	bronchial
6	chr5:43191200-43194400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr5:43191200-43194800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:43191600-43192400	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr5:43191600-43193200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr5:43191600-43193600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr5:43191600-43193800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr5:43191600-43193800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:43191600-43194000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr5:43191600-43194000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
15	chr5:43191600-43194600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:43191600-43194800	Active TSS	Brain Angular Gyrus	brain
17	chr5:43191800-43192400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:43191800-43192400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:43191800-43192400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:43191800-43192400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:43191800-43192400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr5:43191800-43192400	Active TSS	NH-A	brain
23	chr5:43191800-43192400	Active TSS	Osteobl	bone
24	chr5:43191800-43192600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:43191800-43192600	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr5:43191800-43192600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr5:43191800-43192600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
28	chr5:43191800-43192600	Active TSS	Right Atrium	heart
29	chr5:43191800-43192800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
30	chr5:43191800-43192800	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr5:43191800-43192800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:43191800-43193000	Flanking Active TSS	Liver	Liver
33	chr5:43191800-43193000	Active TSS	Fetal Kidney	kidney
34	chr5:43191800-43193000	Flanking Active TSS	Left Ventricle	heart
35	chr5:43191800-43193000	Flanking Active TSS	Ovary	ovary
36	chr5:43191800-43193200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
37	chr5:43191800-43193200	Flanking Active TSS	Esophagus	oesophagus
38	chr5:43191800-43193200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
39	chr5:43191800-43193200	Flanking Active TSS	Pancreas	Pancrea
40	chr5:43191800-43193200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr5:43191800-43193400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
42	chr5:43191800-43193400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
43	chr5:43191800-43193400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
44	chr5:43191800-43193400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:43191800-43193400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr5:43191800-43193400	Flanking Bivalent TSS/Enh	Thymus	Thymus
47	chr5:43191800-43193600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
48	chr5:43191800-43193600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
49	chr5:43191800-43193600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
50	chr5:43191800-43193600	Active TSS	Colon Smooth Muscle	Colon

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