Variant report

Variant	rs572526760
Chromosome Location	chr4:165898830-165898831
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:109)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:109 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:165898794-165899061	IMR90	lung:	n/a	n/a
2	POLR2A	chr4:165898335-165899157	GM18951	blood:	n/a	n/a
3	POLR2A	chr4:165898426-165899126	GM12878	blood:	n/a	n/a
4	STAT5A	chr4:165898279-165898985	GM12878	blood:	n/a	chr4:165898782-165898790
5	CTCF	chr4:165898800-165898950	HPAF	blood vessel:	n/a	n/a
6	RAD21	chr4:165898768-165899039	GM12878	blood:	n/a	n/a
7	POLR2A	chr4:165897812-165899292	GM12878	blood:	n/a	n/a
8	ELF1	chr4:165898506-165899182	GM12878	blood:	n/a	chr4:165898822-165898831 chr4:165898819-165898832 chr4:165898821-165898832
9	CTCF	chr4:165898800-165898950	GM12878	blood:	n/a	n/a
10	NRF1	chr4:165898644-165899142	GM12878	blood:	n/a	chr4:165898846-165898857 chr4:165898846-165898860 chr4:165898843-165898857
11	POLR2A	chr4:165898458-165899157	GM19099	blood:	n/a	n/a
12	RCOR1	chr4:165898735-165899010	GM12878	blood:	n/a	n/a
13	RFX5	chr4:165898659-165898882	GM12878	blood:	n/a	n/a
14	CHD2	chr4:165898446-165899204	GM12878	blood:	n/a	n/a
15	POLR2A	chr4:165898509-165899165	GM12878	blood:	n/a	n/a
16	POLR2A	chr4:165898450-165899122	GM12892	blood:	n/a	n/a
17	CTCF	chr4:165898800-165898950	GM12869	blood:	n/a	n/a
18	YY1	chr4:165898514-165898923	GM12878	blood:	n/a	n/a
19	MAX	chr4:165898700-165899003	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr4:165898820-165898970	GM12873	blood:	n/a	n/a
21	CTCF	chr4:165898820-165898970	AG10803	skin:	n/a	n/a
22	CTCF	chr4:165898780-165898930	GM12864	blood:	n/a	n/a
23	TAF1	chr4:165898504-165899020	GM12878	blood:	n/a	n/a
24	CTCF	chr4:165898760-165898910	NHDF-neo	bronchial:	n/a	n/a
25	GABPA	chr4:165898647-165898938	GM12878	blood:	n/a	chr4:165898846-165898857 chr4:165898846-165898860 chr4:165898843-165898857
26	CTCF	chr4:165898788-165899015	GM19240	blood:	n/a	n/a
27	CTCF	chr4:165898820-165898970	GM12872	blood:	n/a	n/a
28	ZNF143	chr4:165898585-165899097	GM12878	blood:	n/a	n/a
29	POLR2A	chr4:165898488-165898950	IMR90	lung:	n/a	n/a
30	PML	chr4:165898590-165899019	GM12878	blood:	n/a	n/a
31	CTCF	chr4:165898782-165899055	GM12878	blood:	n/a	n/a
32	POLR2A	chr4:165898554-165899006	GM12878	blood:	n/a	n/a
33	CTCF	chr4:165898811-165899001	GM13977	blood:	n/a	n/a
34	POLR2A	chr4:165898235-165899320	GM15510	blood:	n/a	n/a
35	ELF1	chr4:165898653-165898896	K562	blood:	n/a	chr4:165898822-165898831 chr4:165898819-165898832 chr4:165898821-165898832
36	WRNIP1	chr4:165898234-165899396	GM12878	blood:	n/a	n/a
37	GABPA	chr4:165898614-165898979	GM12878	blood:	n/a	chr4:165898846-165898857 chr4:165898846-165898860 chr4:165898843-165898857
38	CTCF	chr4:165898820-165898970	GM06990	blood:	n/a	n/a
39	ELF1	chr4:165898354-165899166	GM12878	blood:	n/a	chr4:165898822-165898831 chr4:165898819-165898832 chr4:165898821-165898832
40	POLR2A	chr4:165898327-165899100	GM12878	blood:	n/a	n/a
41	CTCF	chr4:165898800-165898950	HMF	breast:	n/a	n/a
42	CTCF	chr4:165898820-165898970	HPAF	blood vessel:	n/a	n/a
43	POLR2A	chr4:165898050-165899262	GM18505	blood:	n/a	n/a
44	CTCF	chr4:165898634-165899119	GM12878	blood:	n/a	n/a
45	POLR2A	chr4:165898272-165899130	GM12892	blood:	n/a	n/a
46	RAD21	chr4:165898765-165899038	GM12878	blood:	n/a	n/a
47	MTA3	chr4:165898227-165899447	GM12878	blood:	n/a	n/a
48	CTCF	chr4:165898815-165898916	GM13976	blood:	n/a	n/a
49	ELK1	chr4:165898523-165898973	GM12878	blood:	n/a	n/a
50	GABPA	chr4:165898709-165898939	K562	blood:	n/a	chr4:165898846-165898857 chr4:165898846-165898860 chr4:165898843-165898857

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:165898825-165898875	HRCEpiC	kidney:	n/a
2	chr4:165898825-165898875	AG10803	skin:	n/a
3	chr4:165898825-165898875	A549	lung:	n/a
4	chr4:165898825-165898875	SK-N-SH_RA	brain:	n/a
5	chr4:165898825-165898875	MCF10A-Er-Src	breast:	n/a
6	chr4:165898825-165898875	U87	brain:	n/a
7	chr4:165898825-165898875	T-47D	breast:	n/a
8	chr4:165898825-165898875	NHBE	bronchial:	n/a
9	chr4:165898825-165898875	ProgFib	skin:	n/a
10	chr4:165898825-165898875	Hela-S3	cervix:	n/a
11	chr4:165898825-165898875	AG04449	skin:	fetal
12	chr4:165898825-165898875	GM19239	blood:	n/a
13	chr4:165898825-165898875	HMEC	breast:	n/a
14	chr4:165898825-165898875	HNPCEpiC	eye:	n/a
15	chr4:165898825-165898875	HCM	heart:	n/a
16	chr4:165898825-165898875	BJ	skin:	n/a
17	chr4:165898825-165898875	HCT-116	colon:	n/a
18	chr4:165898825-165898875	AG09309	skin:	n/a
19	chr4:165898825-165898875	HepG2	liver:	n/a
20	chr4:165898825-165898875	GM06990	blood:	n/a
21	chr4:165898825-165898875	HUVEC	blood vessel:	n/a
22	chr4:165898825-165898875	SAEC	small airway:	n/a
23	chr4:165898825-165898875	HCF	heart:	n/a
24	chr4:165898825-165898875	RPTEC	kidney:	n/a
25	chr4:165898825-165898875	GM12891	blood:	n/a
26	chr4:165898825-165898875	HRPEpiC	eye:	n/a
27	chr4:165898825-165898875	IMR90	lung:	fetal
28	chr4:165898825-165898875	GM12878	blood:	n/a
29	chr4:165898825-165898875	Jurkat	blood:	n/a
30	chr4:165898825-165898875	HEK293	kidney:	embryo
31	chr4:165898825-165898875	HRE	kidney:	n/a
32	chr4:165898825-165898875	HL-60	blood:	n/a
33	chr4:165898825-165898875	AG09319	gingival:	n/a
34	chr4:165898825-165898875	HPAEpiC	pulmonary alveolar:	n/a
35	chr4:165898825-165898875	NH-A	brain:	n/a
36	chr4:165898825-165898875	Hepatocyte	liver:	n/a
37	chr4:165898825-165898875	HAEpiC	amniotic membrane:	n/a
38	chr4:165898825-165898875	AG04450	lung:	fetal
39	chr4:165898825-165898875	PFSK-1	brain:	n/a
40	chr4:165898825-165898875	ovcar-3	ovarian:	n/a
41	chr4:165898825-165898875	HIPEpiC	eye:	n/a
42	chr4:165898825-165898875	NT2-D1	testis:	n/a
43	chr4:165898825-165898875	H1-hESC	embryonic stem cell:	embryo
44	chr4:165898825-165898875	CMK	blood:	n/a
45	chr4:165898825-165898875	ECC-1	luminal epithelium:	n/a
46	chr4:165898825-165898875	Caco-2	colon:	n/a
47	chr4:165898825-165898875	K562	blood:	n/a
48	chr4:165898825-165898875	PANC-1	pancreas:	n/a
49	chr4:165898825-165898875	PrEC	prostate:	n/a
50	chr4:165898825-165898875	HCPEpiC	choroid plexus:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:165896605..165899172-chr4:165907116..165908745,2	MCF-7	breast:

No data

Variant related genes	Relation type
TRIM61	TF binding region
TRIM61	CpG island
ENSG00000248229	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019150	chr4:165505585-165907924	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1026152	chr4:165622244-166027447	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv537336	chr4:165622244-166027447	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv880382	chr4:165793001-165964290	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	esv2757965	chr4:165801816-165976350	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	esv2759299	chr4:165801816-165976350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv528686	chr4:165814359-165930168	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1015970	chr4:165852926-165973078	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1021905	chr4:165852926-166212878	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv830140	chr4:165855999-165956612	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv533191	chr4:165879671-166171638	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
14	nsv967698	chr4:165898469-165911460	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165897600-165899000	Active TSS	GM12878-XiMat	blood
2	chr4:165897600-165899400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:165897600-165899400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:165897800-165899000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:165897800-165899200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr4:165897800-165899200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr4:165897800-165899200	Active TSS	Right Ventricle	heart
8	chr4:165897800-165899200	Active TSS	HSMM	muscle
9	chr4:165897800-165899400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:165897800-165899400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:165897800-165899400	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr4:165897800-165899400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:165897800-165899400	Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr4:165897800-165899400	Active TSS	Fetal Stomach	stomach
15	chr4:165897800-165899400	Active TSS	Right Atrium	heart
16	chr4:165897800-165899600	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr4:165898000-165899000	Active TSS	H1 Cell Line	embryonic stem cell
18	chr4:165898000-165899000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:165898000-165899000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:165898000-165899000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr4:165898000-165899000	Active TSS	Fetal Intestine Small	intestine
22	chr4:165898000-165899000	Active TSS	Fetal Lung	lung
23	chr4:165898000-165899000	Active TSS	NHLF	lung
24	chr4:165898000-165899200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:165898000-165899200	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr4:165898000-165899200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:165898000-165899200	Active TSS	Primary T cells from cord blood	blood
28	chr4:165898000-165899200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:165898000-165899200	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr4:165898000-165899200	Active TSS	Colon Smooth Muscle	Colon
31	chr4:165898000-165899200	Active TSS	Duodenum Mucosa	Duodenum
32	chr4:165898000-165899200	Active TSS	Fetal Brain Female	brain
33	chr4:165898000-165899200	Active TSS	Left Ventricle	heart
34	chr4:165898000-165899200	Active TSS	Psoas Muscle	Psoas
35	chr4:165898000-165899400	Active TSS	Primary B cells from cord blood	blood
36	chr4:165898000-165899400	Active TSS	Brain Anterior Caudate	brain
37	chr4:165898000-165899400	Active TSS	Brain Hippocampus Middle	brain
38	chr4:165898000-165899400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr4:165898000-165899400	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr4:165898000-165899400	Active TSS	Rectal Smooth Muscle	rectum
41	chr4:165898200-165899000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:165898200-165899000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:165898200-165899000	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr4:165898200-165899000	Active TSS	Aorta	Aorta
45	chr4:165898200-165899000	Active TSS	Brain Germinal Matrix	brain
46	chr4:165898200-165899000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr4:165898200-165899000	ZNF genes & repeats	Fetal Brain Male	brain
48	chr4:165898200-165899000	Active TSS	Fetal Muscle Leg	muscle
49	chr4:165898200-165899000	Active TSS	Ovary	ovary
50	chr4:165898200-165899200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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