Variant report

Variant	rs3213746
Chromosome Location	chr2:37458668-37458669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:512)
CpG islands
(count:61)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:512 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:37458254-37459037	HepG2	liver:	n/a	n/a
2	RELA	chr2:37458357-37459078	GM19099	blood:	n/a	n/a
3	JUND	chr2:37458649-37458902	HepG2	liver:	n/a	n/a
4	MXI1	chr2:37456226-37460228	SK-N-SH	brain:	n/a	n/a
5	HEY1	chr2:37458334-37459171	K562	blood:	n/a	chr2:37458468-37458483
6	JUND	chr2:37458615-37458871	H1-hESC	embryonic stem cell:	n/a	n/a
7	CCNT2	chr2:37458254-37459216	K562	blood:	n/a	n/a
8	POLR2A	chr2:37458409-37459106	U87	brain:	n/a	n/a
9	POLR2A	chr2:37458409-37459136	K562	blood:	n/a	n/a
10	MAX	chr2:37458213-37458876	H1-hESC	embryonic stem cell:	n/a	n/a
11	ETS1	chr2:37458414-37459115	GM12878	blood:	n/a	chr2:37458473-37458483
12	NFIC	chr2:37458357-37458968	ECC-1	luminal epithelium:	n/a	n/a
13	STAT5A	chr2:37458294-37458998	GM12878	blood:	n/a	chr2:37458783-37458803
14	POLR2A	chr2:37458232-37459153	K562	blood:	n/a	n/a
15	BCL3	chr2:37458546-37458946	GM12878	blood:	n/a	n/a
16	SIN3AK20	chr2:37458591-37458922	K562	blood:	n/a	n/a
17	ZEB1	chr2:37458474-37459156	GM12878	blood:	n/a	n/a
18	NR2F2	chr2:37458349-37459298	MCF-7	breast:	n/a	n/a
19	FOXM1	chr2:37458131-37459402	GM12878	blood:	n/a	n/a
20	GATA2	chr2:37457660-37459567	SH-SY5Y	brain:	n/a	n/a
21	BHLHE40	chr2:37458151-37459208	K562	blood:	n/a	chr2:37458534-37458550
22	PAX5	chr2:37458313-37458960	GM12878	blood:	n/a	n/a
23	EP300	chr2:37458488-37459059	K562	blood:	n/a	n/a
24	CEBPB	chr2:37458432-37459075	A549	lung:	n/a	n/a
25	YY1	chr2:37458344-37458909	H1-hESC	embryonic stem cell:	n/a	chr2:37458535-37458549
26	POLR2A	chr2:37458193-37459627	Raji	blood:	n/a	n/a
27	SIX5	chr2:37458155-37458999	A549	lung:	n/a	n/a
28	MAX	chr2:37457632-37459963	HepG2	liver:	n/a	chr2:37459879-37459890 chr2:37459880-37459890
29	TRIM28	chr2:37458438-37459116	K562	blood:	n/a	n/a
30	BCL3	chr2:37458114-37459019	A549	lung:	n/a	chr2:37458536-37458549
31	BCL3	chr2:37458337-37459104	A549	lung:	n/a	chr2:37458536-37458549
32	MAX	chr2:37457778-37459361	HCT-116	colon:	n/a	n/a
33	TAF1	chr2:37458327-37459167	K562	blood:	n/a	n/a
34	CREB1	chr2:37458425-37459205	H1-hESC	embryonic stem cell:	n/a	n/a
35	GABPA	chr2:37458029-37459265	A549	lung:	n/a	n/a
36	TAF1	chr2:37458457-37459009	GM12891	blood:	n/a	n/a
37	CEBPB	chr2:37458489-37459171	HepG2	liver:	n/a	n/a
38	CTCF	chr2:37458600-37458750	HUVEC	blood vessel:	n/a	n/a
39	RAD21	chr2:37458527-37459040	SK-N-SH_RA	brain:	n/a	n/a
40	ETS1	chr2:37458388-37459211	K562	blood:	n/a	chr2:37458473-37458483
41	MAZ	chr2:37458410-37459138	K562	blood:	n/a	n/a
42	BHLHE40	chr2:37457915-37459091	HepG2	liver:	n/a	chr2:37458534-37458550
43	MAX	chr2:37457878-37459196	A549	lung:	n/a	n/a
44	POU2F2	chr2:37458524-37458954	GM12878	blood:	n/a	n/a
45	CHD1	chr2:37458226-37459712	GM12878	blood:	n/a	n/a
46	PAX5	chr2:37458507-37459106	GM12891	blood:	n/a	n/a
47	YY1	chr2:37458175-37459190	A549	lung:	n/a	chr2:37458535-37458549
48	ELF1	chr2:37458265-37459056	HepG2	liver:	n/a	chr2:37458535-37458547 chr2:37458472-37458481
49	ATF3	chr2:37458459-37459023	A549	lung:	n/a	n/a
50	FOSL2	chr2:37458140-37459111	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:37458661-37458711	HRE	kidney:	n/a
2	chr2:37458661-37458711	MCF10A-Er-Src	breast:	n/a
3	chr2:37458661-37458711	HCM	heart:	n/a
4	chr2:37458661-37458711	Hela-S3	cervix:	n/a
5	chr2:37458661-37458711	AoSMC	blood vessel:	n/a
6	chr2:37458661-37458711	H1-hESC	embryonic stem cell:	embryo
7	chr2:37458661-37458711	CMK	blood:	n/a
8	chr2:37458661-37458711	GM12878	blood:	n/a
9	chr2:37458661-37458711	HUVEC	blood vessel:	n/a
10	chr2:37458661-37458711	MCF-7	breast:	n/a
11	chr2:37458661-37458711	K562	blood:	n/a
12	chr2:37458661-37458711	NHDF-neo	bronchial:	n/a
13	chr2:37458661-37458711	SAEC	small airway:	n/a
14	chr2:37458661-37458711	HepG2	liver:	n/a
15	chr2:37458661-37458711	SK-N-SH	brain:	n/a
16	chr2:37458661-37458711	HCF	heart:	n/a
17	chr2:37458661-37458711	HAEpiC	amniotic membrane:	n/a
18	chr2:37458661-37458711	GM06990	blood:	n/a
19	chr2:37458661-37458711	A549	lung:	n/a
20	chr2:37458661-37458711	HRCEpiC	kidney:	n/a
21	chr2:37458661-37458711	HEK293	kidney:	embryo
22	chr2:37458661-37458711	LNCaP	prostate:	n/a
23	chr2:37458661-37458711	GM12891	blood:	n/a
24	chr2:37458661-37458711	ECC-1	luminal epithelium:	n/a
25	chr2:37458661-37458711	HCT-116	colon:	n/a
26	chr2:37458661-37458711	NH-A	brain:	n/a
27	chr2:37458661-37458711	AG09319	gingival:	n/a
28	chr2:37458661-37458711	SK-N-SH_RA	brain:	n/a
29	chr2:37458661-37458711	PANC-1	pancreas:	n/a
30	chr2:37458661-37458711	Caco-2	colon:	n/a
31	chr2:37458661-37458711	NHBE	bronchial:	n/a
32	chr2:37458661-37458711	HIPEpiC	eye:	n/a
33	chr2:37458661-37458711	IMR90	lung:	fetal
34	chr2:37458661-37458711	BE2_C	brain:	n/a
35	chr2:37458661-37458711	GM19239	blood:	n/a
36	chr2:37458661-37458711	PrEC	prostate:	n/a
37	chr2:37458661-37458711	U87	brain:	n/a
38	chr2:37458661-37458711	ProgFib	skin:	n/a
39	chr2:37458661-37458711	HL-60	blood:	n/a
40	chr2:37458661-37458711	ovcar-3	ovarian:	n/a
41	chr2:37458661-37458711	AG04450	lung:	fetal
42	chr2:37458661-37458711	HMEC	breast:	n/a
43	chr2:37458661-37458711	NT2-D1	testis:	n/a
44	chr2:37458661-37458711	HCPEpiC	choroid plexus:	n/a
45	chr2:37458661-37458711	Hepatocyte	liver:	n/a
46	chr2:37458661-37458711	AG10803	skin:	n/a
47	chr2:37458661-37458711	SK-N-MC	brain:	n/a
48	chr2:37458661-37458711	Jurkat	blood:	n/a
49	chr2:37458661-37458711	HRPEpiC	eye:	n/a
50	chr2:37458661-37458711	BJ	skin:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56551529..56552322-chr2:37458364..37459177,2	Hela-S3	cervix:
2	chr2:37423198..37425602-chr2:37457469..37460195,6	K562	blood:
3	chr2:37457149..37460328-chr2:37469330..37472927,4	MCF-7	breast:
4	chr2:37458143..37460778-chr2:37473170..37474857,2	MCF-7	breast:
5	chr2:37457130..37459625-chr2:38301766..38304160,2	MCF-7	breast:
6	chr2:37438602..37441837-chr2:37456700..37460160,3	K562	blood:
7	chr17:7387273..7388249-chr2:37458336..37459241,2	HCT-116	colon:
8	chr2:37458248..37458791-chr20:30192578..30193417,2	Hela-S3	cervix:
9	chr2:37458068..37462101-chr2:37468406..37471417,5	K562	blood:
10	chr2:37420975..37425403-chr2:37457376..37460314,8	K562	blood:
11	chr2:37457826..37459742-chr2:38976926..38979723,2	K562	blood:
12	chr2:37422039..37425278-chr2:37456815..37459935,9	MCF-7	breast:
13	chr2:37383967..37386325-chr2:37457482..37459560,2	MCF-7	breast:
14	chr2:37422594..37426591-chr2:37455893..37460210,5	MCF-7	breast:
15	chr2:37413518..37417531-chr2:37457528..37460316,5	MCF-7	breast:
16	chr2:37456368..37460350-chr2:37466636..37472512,8	MCF-7	breast:

No data

Variant related genes	Relation type
NDUFAF7	TF binding region
CEBPZ	TF binding region
CEBPZ	CpG island
NDUFAF7	CpG island
ENSG00000174282	Chromatin interaction
ENSG00000092841	Chromatin interaction
ENSG00000232973	Chromatin interaction
ENSG00000138068	Chromatin interaction
ENSG00000181222	Chromatin interaction
ENSG00000125968	Chromatin interaction
ENSG00000115816	Chromatin interaction
ENSG00000115875	Chromatin interaction
ENSG00000257809	Chromatin interaction
ENSG00000233159	Chromatin interaction
ENSG00000218739	Chromatin interaction
ENSG00000152147	Chromatin interaction
ENSG00000003509	Chromatin interaction
ENSG00000055332	Chromatin interaction
ENSG00000138061	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10204434	0.83[CHD][hapmap];0.84[JPT][hapmap]
rs10206380	0.93[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs10460527	0.81[CHB][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap]
rs11124570	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs1160516	0.80[CHB][hapmap];0.89[JPT][hapmap]
rs11887618	0.80[CHB][hapmap];0.89[JPT][hapmap]
rs12469082	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[CHD][hapmap];0.90[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12476195	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13390055	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs13412560	0.84[CHB][hapmap];1.00[YRI][hapmap]
rs13421912	0.80[CHB][hapmap];0.89[JPT][hapmap]
rs13429526	0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs17020344	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17020358	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2041838	0.85[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2041839	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2075215	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2075216	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2216114	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs2239650	0.93[CHD][hapmap];0.81[JPT][hapmap]
rs2241163	0.86[EUR][1000 genomes]
rs2255991	1.00[MEX][hapmap]
rs2268988	1.00[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2287091	0.83[CHD][hapmap];0.84[JPT][hapmap]
rs2287092	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs2300886	0.81[CHB][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap]
rs2300887	0.81[CHB][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap]
rs2300888	0.80[CHB][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap]
rs2300891	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2300894	0.81[CHB][hapmap];0.81[CHD][hapmap];0.84[JPT][hapmap]
rs2300896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2302649	0.83[CHD][hapmap];0.84[JPT][hapmap]
rs2372887	0.97[ASN][1000 genomes]
rs3755192	0.95[JPT][hapmap]
rs3770761	0.81[CHB][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap]
rs3815555	0.89[MEX][hapmap]
rs3821144	0.80[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap]
rs4629138	0.81[CHD][hapmap];0.84[JPT][hapmap]
rs4670187	1.00[YRI][hapmap]
rs4670682	0.80[CHB][hapmap];0.89[JPT][hapmap]
rs4670684	0.89[JPT][hapmap]
rs4670685	0.84[JPT][hapmap]
rs57861177	0.90[EUR][1000 genomes]
rs59559471	0.89[ASN][1000 genomes]
rs59612622	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60981509	0.86[EUR][1000 genomes]
rs73927424	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7593932	0.84[JPT][hapmap]
rs9309003	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs952711	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs952712	1.00[CEU][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37456200-37459600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr2:37456600-37460400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:37456800-37459400	Active TSS	GM12878-XiMat	blood
4	chr2:37456800-37460600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:37457000-37459000	Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr2:37457000-37459400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:37457000-37459400	Active TSS	Right Ventricle	heart
8	chr2:37457000-37459600	Active TSS	H1 Cell Line	embryonic stem cell
9	chr2:37457000-37459600	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr2:37457000-37459600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:37457000-37459800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr2:37457000-37459800	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr2:37457000-37460200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:37457000-37461000	Active TSS	H9 Cell Line	embryonic stem cell
15	chr2:37457200-37459200	Active TSS	Primary T cells fromperipheralblood	blood
16	chr2:37457200-37459400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:37457200-37459400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:37457200-37459600	Active TSS	Fetal Intestine Large	intestine
19	chr2:37457200-37459600	Active TSS	K562	blood
20	chr2:37457200-37459800	Active TSS	Psoas Muscle	Psoas
21	chr2:37457200-37459800	Active TSS	NHDF-Ad	bronchial
22	chr2:37457200-37460400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:37457200-37461000	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr2:37457400-37459200	Active TSS	Colonic Mucosa	Colon
25	chr2:37457400-37459400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:37457400-37459400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:37457400-37459400	Active TSS	Right Atrium	heart
28	chr2:37457400-37459400	Active TSS	Hela-S3	cervix
29	chr2:37457400-37459600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:37457400-37459600	Active TSS	HMEC	breast
31	chr2:37457400-37459800	Active TSS	NHLF	lung
32	chr2:37457400-37460000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr2:37457600-37459200	Active TSS	Fetal Muscle Trunk	muscle
34	chr2:37457600-37459400	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr2:37457600-37459400	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr2:37457600-37459400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:37457600-37459600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:37457600-37459600	Active TSS	Aorta	Aorta
39	chr2:37457600-37459600	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr2:37457600-37459600	Active TSS	Ovary	ovary
41	chr2:37457600-37459600	Active TSS	A549	lung
42	chr2:37457600-37459800	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr2:37457600-37459800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:37457600-37459800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:37457600-37460400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:37457800-37459000	Active TSS	Lung	lung
47	chr2:37457800-37459200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:37457800-37459400	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr2:37457800-37459400	Active TSS	Colon Smooth Muscle	Colon
50	chr2:37457800-37459400	Active TSS	Esophagus	oesophagus

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