Variant report

Variant	rs61542159
Chromosome Location	chr2:173417651-173417652
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:104)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:104 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TRIM28	chr2:173417385-173417928	K562	blood:	n/a	n/a
2	ATF1	chr2:173417506-173418062	K562	blood:	n/a	n/a
3	TRIM28	chr2:173417384-173418075	K562	blood:	n/a	n/a
4	TAL1	chr2:173417356-173418048	K562	blood:	n/a	n/a
5	IRF1	chr2:173417159-173417973	K562	blood:	n/a	n/a
6	GATA2	chr2:173417406-173418099	K562	blood:	n/a	n/a
7	CHD2	chr2:173417562-173417798	K562	blood:	n/a	n/a
8	MXI1	chr2:173417445-173417837	K562	blood:	n/a	n/a
9	FOSL2	chr2:173417489-173417883	HepG2	liver:	n/a	n/a
10	RCOR1	chr2:173417219-173418109	K562	blood:	n/a	n/a
11	PML	chr2:173417355-173418025	K562	blood:	n/a	n/a
12	RCOR1	chr2:173417485-173417995	K562	blood:	n/a	n/a
13	ZC3H11A	chr2:173417479-173417816	K562	blood:	n/a	n/a
14	POLR2A	chr2:173417416-173417895	U87	brain:	n/a	n/a
15	MYC	chr2:173417248-173417918	K562	blood:	n/a	n/a
16	HDAC2	chr2:173417574-173417952	K562	blood:	n/a	n/a
17	KAP1	chr2:173417204-173418012	K562	blood:	n/a	n/a
18	CTCF	chr2:173417493-173417821	K562	blood:	n/a	n/a
19	MAX	chr2:173417475-173417921	K562	blood:	n/a	n/a
20	MAFF	chr2:173417513-173417828	HepG2	liver:	n/a	chr2:173417646-173417664
21	JUN	chr2:173416974-173417920	K562	blood:	n/a	chr2:173417182-173417193 chr2:173417088-173417098
22	POLR2A	chr2:173417475-173417973	K562	blood:	n/a	n/a
23	GABPA	chr2:173417551-173417935	K562	blood:	n/a	n/a
24	MAFK	chr2:173417485-173417772	H1-hESC	embryonic stem cell:	n/a	chr2:173417648-173417663
25	CBX3	chr2:173417204-173418055	K562	blood:	n/a	n/a
26	RCOR1	chr2:173417331-173418218	IMR90	lung:	n/a	n/a
27	FOS	chr2:173417446-173417930	K562	blood:	n/a	chr2:173417687-173417698 chr2:173417653-173417664
28	TBL1XR1	chr2:173417432-173417905	K562	blood:	n/a	n/a
29	POLR2A	chr2:173417369-173418101	K562	blood:	n/a	n/a
30	EP300	chr2:173416960-173418106	K562	blood:	n/a	n/a
31	MAZ	chr2:173417229-173418097	IMR90	lung:	n/a	n/a
32	JUN	chr2:173417414-173417963	K562	blood:	n/a	n/a
33	JUND	chr2:173417226-173418060	K562	blood:	n/a	chr2:173417687-173417698 chr2:173417653-173417664
34	PML	chr2:173417407-173418037	K562	blood:	n/a	n/a
35	ZNF384	chr2:173417351-173417828	K562	blood:	n/a	n/a
36	ZNF143	chr2:173417278-173417808	K562	blood:	n/a	n/a
37	MAX	chr2:173417599-173417866	K562	blood:	n/a	n/a
38	POLR2A	chr2:173417540-173417892	K562	blood:	n/a	n/a
39	BACH1	chr2:173417215-173418005	K562	blood:	n/a	n/a
40	JUN	chr2:173417510-173417888	HUVEC	blood vessel:	n/a	n/a
41	SETDB1	chr2:173417138-173417758	U2OS	brain:	n/a	n/a
42	NFYB	chr2:173417284-173417781	K562	blood:	n/a	n/a
43	ARID3A	chr2:173417198-173418015	K562	blood:	n/a	n/a
44	CEBPD	chr2:173417435-173418083	K562	blood:	n/a	n/a
45	CEBPD	chr2:173417456-173418119	K562	blood:	n/a	n/a
46	FOSL2	chr2:173417431-173417987	SK-N-SH	brain:	n/a	n/a
47	E2F4	chr2:173417497-173417704	MCF10A-Er-Src	breast:	n/a	n/a
48	TEAD4	chr2:173417205-173418144	K562	blood:	n/a	n/a
49	FOS	chr2:173417432-173417892	HUVEC	blood vessel:	n/a	chr2:173417687-173417698 chr2:173417653-173417664
50	GATA2	chr2:173417516-173417942	HUVEC	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:173417637-173417687	T-47D	breast:	n/a
2	chr2:173417637-173417687	HEEpiC	esophagus:	n/a
3	chr2:173417637-173417687	Jurkat	blood:	n/a
4	chr2:173417637-173417687	HCT-116	colon:	n/a
5	chr2:173417637-173417687	AG09309	skin:	n/a
6	chr2:173417637-173417687	ovcar-3	ovarian:	n/a
7	chr2:173417637-173417687	ECC-1	luminal epithelium:	n/a
8	chr2:173417637-173417687	NH-A	brain:	n/a
9	chr2:173417637-173417687	SK-N-SH_RA	brain:	n/a
10	chr2:173417637-173417687	HCM	heart:	n/a
11	chr2:173417637-173417687	BE2_C	brain:	n/a
12	chr2:173417637-173417687	HCF	heart:	n/a
13	chr2:173417637-173417687	SKMC	muscle:	n/a
14	chr2:173417637-173417687	AoSMC	blood vessel:	n/a
15	chr2:173417637-173417687	HIPEpiC	eye:	n/a
16	chr2:173417637-173417687	HAEpiC	amniotic membrane:	n/a
17	chr2:173417637-173417687	AG04449	skin:	fetal
18	chr2:173417637-173417687	PrEC	prostate:	n/a
19	chr2:173417637-173417687	K562	blood:	n/a
20	chr2:173417637-173417687	HRCEpiC	kidney:	n/a
21	chr2:173417637-173417687	GM19239	blood:	n/a
22	chr2:173417637-173417687	AG09319	gingival:	n/a
23	chr2:173417637-173417687	RPTEC	kidney:	n/a
24	chr2:173417637-173417687	HMEC	breast:	n/a
25	chr2:173417637-173417687	CMK	blood:	n/a
26	chr2:173417637-173417687	H1-hESC	embryonic stem cell:	embryo
27	chr2:173417637-173417687	HepG2	liver:	n/a
28	chr2:173417637-173417687	A549	lung:	n/a
29	chr2:173417637-173417687	ProgFib	skin:	n/a
30	chr2:173417637-173417687	Hepatocyte	liver:	n/a
31	chr2:173417637-173417687	NHBE	bronchial:	n/a
32	chr2:173417637-173417687	GM12878	blood:	n/a
33	chr2:173417637-173417687	HPAEpiC	pulmonary alveolar:	n/a
34	chr2:173417637-173417687	AG04450	lung:	fetal
35	chr2:173417637-173417687	SK-N-SH	brain:	n/a
36	chr2:173417637-173417687	HL-60	blood:	n/a
37	chr2:173417637-173417687	U87	brain:	n/a
38	chr2:173417637-173417687	NT2-D1	testis:	n/a
39	chr2:173417637-173417687	BJ	skin:	n/a
40	chr2:173417637-173417687	NHDF-neo	bronchial:	n/a
41	chr2:173417637-173417687	SK-N-MC	brain:	n/a
42	chr2:173417637-173417687	LNCaP	prostate:	n/a
43	chr2:173417637-173417687	NB4	blood:	n/a
44	chr2:173417637-173417687	HEK293	kidney:	embryo
45	chr2:173417637-173417687	Hela-S3	cervix:	n/a
46	chr2:173417637-173417687	HUVEC	blood vessel:	n/a
47	chr2:173417637-173417687	PANC-1	pancreas:	n/a
48	chr2:173417637-173417687	HRE	kidney:	n/a
49	chr2:173417637-173417687	PFSK-1	brain:	n/a
50	chr2:173417637-173417687	AG10803	skin:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:173411388..173414251-chr2:173417353..173419671,2	K562	blood:
2	chr2:173415950..173418618-chr2:173418644..173420848,5	MCF-7	breast:
3	chr2:173417386..173419457-chr2:173477880..173480867,2	K562	blood:
4	chr2:173416752..173419006-chr2:173419091..173423058,6	K562	blood:
5	chr2:173416752..173418399-chr2:173421558..173423217,2	K562	blood:

No data

Variant related genes	Relation type
PDK1	TF binding region
PDK1	CpG island
ENSG00000199866	Chromatin interaction
ENSG00000152256	Chromatin interaction
ENSG00000225205	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12465442	0.89[EUR][1000 genomes]
rs12467358	0.89[EUR][1000 genomes]
rs12474168	0.89[EUR][1000 genomes]
rs12474995	0.89[EUR][1000 genomes]
rs12475916	0.96[EUR][1000 genomes]
rs12476126	0.89[EUR][1000 genomes]
rs12477247	0.89[EUR][1000 genomes]
rs12478465	0.89[EUR][1000 genomes]
rs12619242	0.89[EUR][1000 genomes]
rs12622687	0.89[EUR][1000 genomes]
rs13383151	0.89[EUR][1000 genomes]
rs13402061	0.89[EUR][1000 genomes]
rs1574247	0.82[EUR][1000 genomes]
rs2178474	0.86[EUR][1000 genomes]
rs2293646	0.82[EUR][1000 genomes]
rs2357415	0.82[EUR][1000 genomes]
rs4308101	0.89[EUR][1000 genomes]
rs57418091	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57957394	0.89[EUR][1000 genomes]
rs58016698	0.89[EUR][1000 genomes]
rs58044442	0.89[EUR][1000 genomes]
rs59020762	0.93[EUR][1000 genomes]
rs59610589	0.89[EUR][1000 genomes]
rs60446415	0.86[EUR][1000 genomes]
rs6755100	0.89[EUR][1000 genomes]
rs7565216	0.86[EUR][1000 genomes]
rs7591883	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173392600-173419600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:173410000-173418800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:173410800-173418000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:173410800-173418800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:173411000-173419600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:173413000-173419400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:173413000-173419600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:173413400-173419200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr2:173413800-173419800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr2:173414000-173418000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:173414000-173418000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:173414000-173419400	Weak transcription	Placenta	Placenta
13	chr2:173414600-173419000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr2:173415000-173419600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr2:173415400-173418200	Enhancers	Fetal Intestine Small	intestine
16	chr2:173415600-173419200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:173415600-173419200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr2:173415600-173419400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:173415600-173420000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:173415800-173417800	Weak transcription	Fetal Intestine Large	intestine
21	chr2:173415800-173419200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:173415800-173419600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:173415800-173420000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:173416000-173417800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:173416000-173419000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr2:173416200-173419000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:173416200-173419600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:173416200-173419800	Weak transcription	Right Atrium	heart
29	chr2:173416400-173417800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr2:173416400-173417800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:173416400-173418800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:173416400-173419000	Weak transcription	HepG2	liver
33	chr2:173416400-173419400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr2:173416400-173419600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr2:173416600-173417800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr2:173416600-173418800	Weak transcription	Primary T cells from cord blood	blood
37	chr2:173416600-173419000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:173416600-173419600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:173416800-173417800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr2:173416800-173418200	Strong transcription	Primary B cells from cord blood	blood
41	chr2:173416800-173418200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:173416800-173419200	Weak transcription	Fetal Heart	heart
43	chr2:173417000-173418200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:173417000-173418200	Enhancers	Osteobl	bone
45	chr2:173417000-173419600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:173417000-173419600	Weak transcription	Adipose Nuclei	Adipose
47	chr2:173417200-173417800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:173417200-173418200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:173417200-173418400	Weak transcription	GM12878-XiMat	blood
50	chr2:173417200-173418400	Enhancers	NH-A	brain

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