Variant report

Variant	rs11574437
Chromosome Location	chr3:46448262-46448263
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr3:46448047-46449447	K562	blood:	n/a	chr3:46448153-46448162
2	POLR2A	chr3:46448132-46450759	PBDE	blood:	n/a	n/a
3	RCOR1	chr3:46447943-46449285	K562	blood:	n/a	n/a
4	CCNT2	chr3:46448078-46449138	K562	blood:	n/a	n/a
5	POLR2A	chr3:46447845-46449340	HUVEC	blood vessel:	n/a	n/a
6	MAX	chr3:46447985-46449220	K562	blood:	n/a	chr3:46448153-46448162 chr3:46448021-46448031
7	NR2F2	chr3:46447587-46449528	K562	blood:	n/a	n/a
8	ELK1	chr3:46448202-46449011	K562	blood:	n/a	n/a
9	JUN	chr3:46448021-46449102	HUVEC	blood vessel:	n/a	chr3:46448150-46448161 chr3:46448153-46448164 chr3:46448607-46448616 chr3:46448154-46448163
10	CUX1	chr3:46448117-46449422	K562	blood:	n/a	n/a
11	ZMIZ1	chr3:46447909-46449216	K562	blood:	n/a	n/a
12	HMGN3	chr3:46448175-46449090	K562	blood:	n/a	n/a
13	MTA3	chr3:46448217-46449195	GM12878	blood:	n/a	n/a
14	JUND	chr3:46447939-46449611	K562	blood:	n/a	chr3:46448150-46448161 chr3:46448153-46448164 chr3:46448607-46448616 chr3:46448154-46448163
15	POLR2A	chr3:46448013-46449277	K562	blood:	n/a	n/a
16	CREB1	chr3:46448205-46449227	K562	blood:	n/a	n/a
17	CREB1	chr3:46448069-46449174	K562	blood:	n/a	n/a
18	HCFC1	chr3:46447908-46449155	K562	blood:	n/a	n/a
19	CHD2	chr3:46448172-46449017	K562	blood:	n/a	n/a
20	TRIM28	chr3:46448250-46449202	K562	blood:	n/a	n/a
21	ZC3H11A	chr3:46448048-46449224	K562	blood:	n/a	n/a
22	GATA2	chr3:46448019-46449181	HUVEC	blood vessel:	n/a	chr3:46448648-46448655
23	YY1	chr3:46448190-46449112	K562	blood:	n/a	chr3:46448296-46448306
24	JUN	chr3:46448138-46449377	K562	blood:	n/a	chr3:46448150-46448161 chr3:46448153-46448164 chr3:46448607-46448616 chr3:46448154-46448163
25	EP300	chr3:46447985-46449392	K562	blood:	n/a	chr3:46448090-46448097 chr3:46448340-46448350
26	JUN	chr3:46447954-46449187	K562	blood:	n/a	chr3:46448150-46448161 chr3:46448153-46448164 chr3:46448607-46448616 chr3:46448154-46448163
27	TAL1	chr3:46448140-46449351	K562	blood:	n/a	n/a
28	NR2F2	chr3:46448003-46449198	K562	blood:	n/a	n/a
29	POLR2A	chr3:46448047-46449097	K562	blood:	n/a	n/a
30	CBX3	chr3:46447982-46449253	K562	blood:	n/a	n/a
31	JUN	chr3:46447534-46450045	K562	blood:	n/a	chr3:46448150-46448161 chr3:46448153-46448164 chr3:46448607-46448616 chr3:46448154-46448163
32	MAZ	chr3:46447949-46449170	K562	blood:	n/a	chr3:46448153-46448162 chr3:46448021-46448031
33	RCOR1	chr3:46447812-46449272	K562	blood:	n/a	n/a
34	TBL1XR1	chr3:46448131-46449187	K562	blood:	n/a	n/a
35	E2F6	chr3:46448083-46448890	K562	blood:	n/a	chr3:46448281-46448290
36	JUN	chr3:46448002-46449184	K562	blood:	n/a	chr3:46448150-46448161 chr3:46448153-46448164 chr3:46448607-46448616 chr3:46448154-46448163
37	TEAD4	chr3:46447793-46449710	K562	blood:	n/a	n/a
38	FOSL1	chr3:46447977-46449112	K562	blood:	n/a	chr3:46448150-46448161 chr3:46448153-46448164 chr3:46448607-46448616 chr3:46448154-46448163
39	UBTF	chr3:46448071-46449207	K562	blood:	n/a	n/a
40	BHLHE40	chr3:46448037-46449093	K562	blood:	n/a	n/a
41	ZBTB7A	chr3:46447997-46448341	K562	blood:	n/a	n/a
42	GABPA	chr3:46448245-46449115	K562	blood:	n/a	n/a
43	JUN	chr3:46447978-46449257	K562	blood:	n/a	chr3:46448150-46448161 chr3:46448153-46448164 chr3:46448607-46448616 chr3:46448154-46448163
44	TBL1XR1	chr3:46448199-46449194	K562	blood:	n/a	n/a
45	FOS	chr3:46447957-46449222	HUVEC	blood vessel:	n/a	chr3:46448150-46448161 chr3:46448153-46448164 chr3:46448607-46448616 chr3:46448154-46448163

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46447015..46450131-chr3:46450692..46453311,4	K562	blood:
2	chr3:46036059..46037983-chr3:46447594..46449867,2	K562	blood:

Variant related genes	Relation type
CCRL2	TF binding region
ENSG00000163820	Chromatin interaction
ENSG00000121797	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11574431	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11574439	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11574440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11574441	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575814	1.00[EUR][1000 genomes]
rs11575817	1.00[EUR][1000 genomes]
rs11575818	1.00[EUR][1000 genomes]
rs11575822	1.00[EUR][1000 genomes]
rs13327723	1.00[EUR][1000 genomes]
rs17141003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17141076	1.00[EUR][1000 genomes]
rs17842821	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17842822	1.00[EUR][1000 genomes]
rs2373253	1.00[EUR][1000 genomes]
rs3136536	1.00[EUR][1000 genomes]
rs3176763	1.00[EUR][1000 genomes]
rs3181037	1.00[EUR][1000 genomes]
rs35212534	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3918370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41495153	1.00[EUR][1000 genomes]
rs55951695	1.00[EUR][1000 genomes]
rs56062522	1.00[EUR][1000 genomes]
rs57509359	1.00[EUR][1000 genomes]
rs57761566	1.00[EUR][1000 genomes]
rs58966767	1.00[EUR][1000 genomes]
rs59998539	1.00[EUR][1000 genomes]
rs60350631	1.00[EUR][1000 genomes]
rs61737000	1.00[EUR][1000 genomes]
rs6441969	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6770833	1.00[EUR][1000 genomes]
rs6776013	0.95[AFR][1000 genomes]
rs6798819	1.00[EUR][1000 genomes]
rs6801203	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs723577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831107	1.00[EUR][1000 genomes]
rs7611447	1.00[EUR][1000 genomes]
rs7614209	1.00[EUR][1000 genomes]
rs7638702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7640084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7640708	1.00[EUR][1000 genomes]
rs7650273	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7652954	1.00[EUR][1000 genomes]
rs9282632	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46428000-46448400	Weak transcription	Primary T cells from cord blood	blood
2	chr3:46438800-46459800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:46439600-46448400	Weak transcription	Psoas Muscle	Psoas
4	chr3:46442400-46448400	Weak transcription	HSMMtube	muscle
5	chr3:46443200-46448400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:46445000-46448600	Enhancers	Fetal Intestine Small	intestine
7	chr3:46445000-46450000	Enhancers	Spleen	Spleen
8	chr3:46445800-46448600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr3:46446000-46448600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr3:46446200-46448400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr3:46446200-46448600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr3:46446200-46448600	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr3:46446200-46448600	Enhancers	Right Atrium	heart
14	chr3:46446200-46450200	Enhancers	Fetal Lung	lung
15	chr3:46446400-46448600	Enhancers	Primary B cells from cord blood	blood
16	chr3:46446400-46448600	Enhancers	Placenta	Placenta
17	chr3:46446400-46448600	Enhancers	HUVEC	blood vessel
18	chr3:46446400-46448800	Enhancers	Primary hematopoietic stem cells	blood
19	chr3:46446400-46448800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr3:46446600-46448600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr3:46446600-46448600	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr3:46446800-46448400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr3:46446800-46448400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:46446800-46448600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:46446800-46448600	Enhancers	NHLF	lung
26	chr3:46446800-46449000	Enhancers	Pancreas	Pancrea
27	chr3:46446800-46450600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:46447000-46448400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:46447000-46448600	Enhancers	Primary B cells from peripheral blood	blood
30	chr3:46447000-46448600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:46447000-46448600	Enhancers	Gastric	stomach
32	chr3:46447000-46448600	Enhancers	NHDF-Ad	bronchial
33	chr3:46447200-46448400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:46447200-46448400	Weak transcription	Fetal Heart	heart
35	chr3:46447200-46448400	Enhancers	HSMM	muscle
36	chr3:46447200-46448400	Enhancers	Osteobl	bone
37	chr3:46447200-46448600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr3:46447200-46448600	Enhancers	Fetal Stomach	stomach
39	chr3:46447200-46449800	Enhancers	Fetal Muscle Trunk	muscle
40	chr3:46447400-46448400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:46447800-46448400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr3:46447800-46448600	Enhancers	Fetal Thymus	thymus
43	chr3:46447800-46448600	Enhancers	Small Intestine	intestine
44	chr3:46447800-46448600	Enhancers	GM12878-XiMat	blood
45	chr3:46447800-46448600	Enhancers	NH-A	brain
46	chr3:46447800-46449800	Active TSS	Rectal Smooth Muscle	rectum
47	chr3:46448000-46448400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr3:46448000-46448600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr3:46448000-46448600	Flanking Active TSS	Colonic Mucosa	Colon
50	chr3:46448000-46448600	Flanking Active TSS	Duodenum Mucosa	Duodenum

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