Variant report

Variant	rs13361193
Chromosome Location	chr5:118791645-118791646
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:118791394-118791820	HepG2	liver:	n/a	n/a
2	POLR2A	chr5:118791369-118791888	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:118791606-118791656	HEK293	kidney:	embryo
2	chr5:118791606-118791656	GM12891	blood:	n/a
3	chr5:118791606-118791656	BJ	skin:	n/a
4	chr5:118791606-118791656	Hela-S3	cervix:	n/a
5	chr5:118791606-118791656	HCPEpiC	choroid plexus:	n/a
6	chr5:118791606-118791656	HPAEpiC	pulmonary alveolar:	n/a
7	chr5:118791606-118791656	NT2-D1	testis:	n/a
8	chr5:118791606-118791656	Hepatocyte	liver:	n/a
9	chr5:118791606-118791656	ECC-1	luminal epithelium:	n/a
10	chr5:118791606-118791656	HIPEpiC	eye:	n/a
11	chr5:118791606-118791656	RPTEC	kidney:	n/a
12	chr5:118791606-118791656	HNPCEpiC	eye:	n/a
13	chr5:118791606-118791656	IMR90	lung:	fetal
14	chr5:118791606-118791656	LNCaP	prostate:	n/a
15	chr5:118791606-118791656	NHBE	bronchial:	n/a
16	chr5:118791606-118791656	SK-N-SH_RA	brain:	n/a
17	chr5:118791606-118791656	A549	lung:	n/a
18	chr5:118791606-118791656	SK-N-SH	brain:	n/a
19	chr5:118791606-118791656	HRE	kidney:	n/a
20	chr5:118791606-118791656	HMEC	breast:	n/a
21	chr5:118791606-118791656	HL-60	blood:	n/a
22	chr5:118791606-118791656	HepG2	liver:	n/a
23	chr5:118791606-118791656	GM19239	blood:	n/a
24	chr5:118791606-118791656	PFSK-1	brain:	n/a
25	chr5:118791606-118791656	U87	brain:	n/a
26	chr5:118791606-118791656	MCF-7	breast:	n/a
27	chr5:118791606-118791656	K562	blood:	n/a
28	chr5:118791606-118791656	HAEpiC	amniotic membrane:	n/a
29	chr5:118791606-118791656	NHDF-neo	bronchial:	n/a
30	chr5:118791606-118791656	HUVEC	blood vessel:	n/a
31	chr5:118791606-118791656	HEEpiC	esophagus:	n/a
32	chr5:118791606-118791656	MCF10A-Er-Src	breast:	n/a
33	chr5:118791606-118791656	GM12878	blood:	n/a
34	chr5:118791606-118791656	AoSMC	blood vessel:	n/a
35	chr5:118791606-118791656	HCT-116	colon:	n/a
36	chr5:118791606-118791656	SAEC	small airway:	n/a
37	chr5:118791606-118791656	Caco-2	colon:	n/a
38	chr5:118791606-118791656	SK-N-MC	brain:	n/a
39	chr5:118791606-118791656	AG04449	skin:	fetal
40	chr5:118791606-118791656	GM12892	blood:	n/a
41	chr5:118791606-118791656	NH-A	brain:	n/a
42	chr5:118791606-118791656	HCM	heart:	n/a
43	chr5:118791606-118791656	AG09309	skin:	n/a
44	chr5:118791606-118791656	PrEC	prostate:	n/a
45	chr5:118791606-118791656	AG09319	gingival:	n/a
46	chr5:118791606-118791656	ProgFib	skin:	n/a
47	chr5:118791606-118791656	BE2_C	brain:	n/a
48	chr5:118791606-118791656	HRPEpiC	eye:	n/a
49	chr5:118791606-118791656	NB4	blood:	n/a
50	chr5:118791606-118791656	AG04450	lung:	fetal

No data

Variant related genes	Relation type
HSD17B4	TF binding region
HSD17B4	CpG island

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10042168	1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs10043526	0.83[EUR][1000 genomes]
rs10045066	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10051019	1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs10066302	0.92[ASN][1000 genomes]
rs10069657	0.85[ASN][1000 genomes]
rs10069875	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes]
rs10072515	0.82[ASN][1000 genomes]
rs10073818	1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs10078097	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10214151	0.83[EUR][1000 genomes]
rs10478425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10478426	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11241506	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12653056	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12653702	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs12656474	0.95[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs12658566	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13436061	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13436186	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13436451	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2075698	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2259347	0.83[CHB][hapmap]
rs2287712	1.00[CHB][hapmap];0.96[JPT][hapmap];0.96[ASN][1000 genomes]
rs2303003	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2451816	0.84[CHB][hapmap];0.80[JPT][hapmap]
rs2546210	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs25640	0.83[CHB][hapmap]
rs257970	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs257972	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs257973	0.83[CHB][hapmap]
rs257974	0.87[CHB][hapmap];0.80[JPT][hapmap]
rs2945327	0.80[JPT][hapmap]
rs32659	0.84[CHB][hapmap]
rs32662	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs32665	0.83[CHB][hapmap]
rs34480380	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34554885	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3756512	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3797360	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3797362	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3797363	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3797364	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3797365	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3797367	1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3797369	0.80[ASN][1000 genomes]
rs3822525	0.96[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3850200	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs455949	0.82[JPT][hapmap]
rs463098	0.83[CHB][hapmap]
rs58263192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60093682	0.86[EUR][1000 genomes]
rs60146316	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61363907	0.84[ASN][1000 genomes]
rs6881294	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6894991	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6895345	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73249951	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9327101	0.83[ASN][1000 genomes]
rs9327102	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv4974	chr5:118750259-118795376	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS 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	12 gene(s)	inside rSNPs	diseases
4	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118789000-118795600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:118789000-118805000	Weak transcription	Esophagus	oesophagus
3	chr5:118789000-118805400	Weak transcription	Ovary	ovary
4	chr5:118789000-118805400	Weak transcription	Spleen	Spleen
5	chr5:118789000-118811800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:118789000-118813200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:118789000-118826800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr5:118789200-118792000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:118789200-118792600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:118789200-118792800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:118789200-118792800	Weak transcription	Right Ventricle	heart
12	chr5:118789200-118793400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:118789200-118794400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:118789200-118797600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:118789200-118803800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr5:118789200-118803800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr5:118789200-118805000	Weak transcription	Thymus	Thymus
18	chr5:118789200-118805400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:118789200-118805600	Weak transcription	Gastric	stomach
20	chr5:118789200-118813200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:118789400-118792200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr5:118789400-118792200	Weak transcription	Primary T cells from cord blood	blood
23	chr5:118789400-118792800	Weak transcription	Placenta	Placenta
24	chr5:118789400-118793000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:118789400-118793000	Weak transcription	HSMM	muscle
26	chr5:118789400-118794400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr5:118789400-118794600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr5:118789400-118794800	Weak transcription	HUVEC	blood vessel
29	chr5:118789400-118800600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr5:118789400-118803800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr5:118789400-118805200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:118789400-118831200	Weak transcription	NH-A	brain
33	chr5:118789400-118831600	Weak transcription	HSMMtube	muscle
34	chr5:118789600-118792400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:118789600-118794800	Weak transcription	NHEK	skin
36	chr5:118789600-118798400	Weak transcription	Adipose Nuclei	Adipose
37	chr5:118789600-118802800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr5:118789600-118804000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr5:118789600-118810600	Weak transcription	Osteobl	bone
40	chr5:118789600-118812000	Weak transcription	A549	lung
41	chr5:118789600-118813400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr5:118789600-118813600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr5:118789800-118792000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr5:118789800-118792000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:118789800-118792000	Weak transcription	K562	blood
46	chr5:118789800-118792200	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr5:118789800-118792200	Weak transcription	Fetal Lung	lung
48	chr5:118789800-118792200	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr5:118789800-118792400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:118789800-118792800	Weak transcription	Brain Hippocampus Middle	brain

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