Variant report

Variant	rs6034537
Chromosome Location	chr20:16556905-16556906
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr20:16556892-16557147	K562	blood:	n/a	n/a
2	YY1	chr20:16556869-16557139	K562	blood:	n/a	n/a
3	USF1	chr20:16556859-16557162	H1-hESC	embryonic stem cell:	n/a	chr20:16557052-16557063
4	TAF1	chr20:16556799-16557046	K562	blood:	n/a	n/a
5	USF1	chr20:16556828-16557172	A549	lung:	n/a	chr20:16557052-16557063
6	MYC	chr20:16556847-16557174	K562	blood:	n/a	n/a
7	MYC	chr20:16556683-16557216	K562	blood:	n/a	n/a
8	USF1	chr20:16556893-16557228	H1-hESC	embryonic stem cell:	n/a	chr20:16557052-16557063
9	USF1	chr20:16556840-16557158	K562	blood:	n/a	chr20:16557052-16557063
10	POLR2A	chr20:16556834-16557143	K562	blood:	n/a	n/a
11	USF1	chr20:16556852-16557207	K562	blood:	n/a	chr20:16557052-16557063
12	POLR2A	chr20:16556850-16557103	K562	blood:	n/a	n/a
13	USF1	chr20:16556836-16557187	A549	lung:	n/a	chr20:16557052-16557063
14	POLR2A	chr20:16556834-16557110	K562	blood:	n/a	n/a
15	MAX	chr20:16556815-16557184	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:16556877-16556927	ECC-1	luminal epithelium:	n/a
2	chr20:16556877-16556927	U87	brain:	n/a
3	chr20:16556877-16556927	Jurkat	blood:	n/a
4	chr20:16556877-16556927	GM12878	blood:	n/a
5	chr20:16556877-16556927	HCPEpiC	choroid plexus:	n/a
6	chr20:16556877-16556927	SKMC	muscle:	n/a
7	chr20:16556877-16556927	RPTEC	kidney:	n/a
8	chr20:16556877-16556927	GM12892	blood:	n/a
9	chr20:16556877-16556927	PANC-1	pancreas:	n/a
10	chr20:16556877-16556927	Hela-S3	cervix:	n/a
11	chr20:16556877-16556927	SK-N-SH	brain:	n/a
12	chr20:16556877-16556927	HRE	kidney:	n/a
13	chr20:16556877-16556927	H1-hESC	embryonic stem cell:	embryo
14	chr20:16556877-16556927	K562	blood:	n/a
15	chr20:16556877-16556927	T-47D	breast:	n/a
16	chr20:16556877-16556927	HAEpiC	amniotic membrane:	n/a
17	chr20:16556877-16556927	IMR90	lung:	fetal
18	chr20:16556877-16556927	Hepatocyte	liver:	n/a
19	chr20:16556877-16556927	A549	lung:	n/a
20	chr20:16556877-16556927	HCM	heart:	n/a
21	chr20:16556877-16556927	SK-N-SH_RA	brain:	n/a
22	chr20:16556877-16556927	HEK293	kidney:	embryo
23	chr20:16556877-16556927	GM19239	blood:	n/a
24	chr20:16556877-16556927	AG10803	skin:	n/a
25	chr20:16556877-16556927	HUVEC	blood vessel:	n/a
26	chr20:16556877-16556927	HRCEpiC	kidney:	n/a
27	chr20:16556877-16556927	SK-N-MC	brain:	n/a
28	chr20:16556877-16556927	CMK	blood:	n/a
29	chr20:16556877-16556927	AG04449	skin:	fetal
30	chr20:16556877-16556927	GM06990	blood:	n/a
31	chr20:16556877-16556927	HEEpiC	esophagus:	n/a
32	chr20:16556877-16556927	GM12891	blood:	n/a
33	chr20:16556877-16556927	HNPCEpiC	eye:	n/a
34	chr20:16556877-16556927	BJ	skin:	n/a
35	chr20:16556877-16556927	AG04450	lung:	fetal
36	chr20:16556877-16556927	MCF10A-Er-Src	breast:	n/a
37	chr20:16556877-16556927	AoSMC	blood vessel:	n/a
38	chr20:16556877-16556927	HPAEpiC	pulmonary alveolar:	n/a
39	chr20:16556877-16556927	Caco-2	colon:	n/a
40	chr20:16556877-16556927	NB4	blood:	n/a
41	chr20:16556877-16556927	LNCaP	prostate:	n/a
42	chr20:16556877-16556927	AG09319	gingival:	n/a
43	chr20:16556877-16556927	HL-60	blood:	n/a
44	chr20:16556877-16556927	ovcar-3	ovarian:	n/a
45	chr20:16556877-16556927	BE2_C	brain:	n/a
46	chr20:16556877-16556927	PFSK-1	brain:	n/a
47	chr20:16556877-16556927	NHBE	bronchial:	n/a
48	chr20:16556877-16556927	HCT-116	colon:	n/a
49	chr20:16556877-16556927	HRPEpiC	eye:	n/a
50	chr20:16556877-16556927	AG09309	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:16554484..16557263-chr20:16559352..16563570,6	K562	blood:
2	chr20:16549901..16551714-chr20:16554248..16557125,2	MCF-7	breast:

No data

Variant related genes	Relation type
KIF16B	TF binding region
KIF16B	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2235968	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4297956	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4588261	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4813227	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6034536	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6044117	0.82[EUR][1000 genomes]
rs6044120	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6044140	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6044142	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6105630	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6135804	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6034537	C20orf23	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16553000-16557200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr20:16555400-16557000	Active TSS	K562	blood
3	chr20:16555600-16557000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr20:16556000-16559600	Weak transcription	Lung	lung
5	chr20:16556000-16560200	Weak transcription	Small Intestine	intestine
6	chr20:16556200-16557000	Enhancers	Fetal Muscle Leg	muscle
7	chr20:16556200-16559600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr20:16556200-16559800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr20:16556200-16560000	Weak transcription	Stomach Mucosa	stomach
10	chr20:16556200-16560400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr20:16556400-16557000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr20:16556400-16557000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr20:16556400-16557000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr20:16556400-16557000	Enhancers	Fetal Muscle Trunk	muscle
15	chr20:16556400-16557000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr20:16556400-16557000	Enhancers	A549	lung
17	chr20:16556400-16557200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr20:16556400-16557200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr20:16556400-16557200	Enhancers	Primary T cells fromperipheralblood	blood
20	chr20:16556400-16559400	Weak transcription	Pancreas	Pancrea
21	chr20:16556400-16559600	Weak transcription	Esophagus	oesophagus
22	chr20:16556400-16559600	Weak transcription	Fetal Intestine Small	intestine
23	chr20:16556400-16559600	Weak transcription	Gastric	stomach
24	chr20:16556400-16559600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr20:16556400-16559600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr20:16556400-16559600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr20:16556400-16560000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr20:16556400-16560000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr20:16556400-16560000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr20:16556400-16560000	Weak transcription	Fetal Kidney	kidney
31	chr20:16556400-16560000	Weak transcription	HMEC	breast
32	chr20:16556400-16560200	Weak transcription	HSMMtube	muscle
33	chr20:16556400-16560200	Weak transcription	NH-A	brain
34	chr20:16556400-16560800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr20:16556400-16560800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr20:16556400-16561000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr20:16556400-16562400	Weak transcription	Left Ventricle	heart
38	chr20:16556600-16557000	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr20:16556600-16558600	Weak transcription	Right Atrium	heart
40	chr20:16556600-16559400	Weak transcription	Fetal Intestine Large	intestine
41	chr20:16556600-16559600	Weak transcription	NHDF-Ad	bronchial
42	chr20:16556600-16559800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr20:16556600-16559800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr20:16556600-16559800	Weak transcription	Fetal Brain Male	brain
45	chr20:16556600-16560000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr20:16556600-16560000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr20:16556600-16560000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr20:16556600-16560000	Weak transcription	Osteobl	bone
49	chr20:16556600-16560200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr20:16556600-16560200	Weak transcription	Fetal Lung	lung

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