Variant report

Variant	rs4692523
Chromosome Location	chr4:26323147-26323148
allele	C/T
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	POLR2A	chr4:26320536-26324309	IMR90	lung:	n/a	n/a
2	YY1	chr4:26321626-26323288	GM12891	blood:	n/a	chr4:26322751-26322760 chr4:26322573-26322584 chr4:26322749-26322760 chr4:26323044-26323058 chr4:26322509-26322518 chr4:26322506-26322515 chr4:26322507-26322518
3	SIN3A	chr4:26320603-26324322	H1-hESC	embryonic stem cell:	n/a	chr4:26322924-26322935 chr4:26320763-26320772
4	CHD1	chr4:26323016-26323159	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr4:26320560-26323255	K562	blood:	n/a	chr4:26321515-26321525 chr4:26321518-26321528 chr4:26320772-26320782
6	TAF1	chr4:26320648-26323397	H1-hESC	embryonic stem cell:	n/a	n/a
7	HMGN3	chr4:26322042-26323227	K562	blood:	n/a	n/a
8	POLR2A	chr4:26323094-26323226	MCF-7	breast:	n/a	n/a
9	POLR2A	chr4:26320666-26323263	GM12878	blood:	n/a	n/a
10	TCF7L2	chr4:26322903-26323333	PANC-1	pancreas:	n/a	chr4:26323196-26323205
11	POLR2A	chr4:26320475-26323197	GM12892	blood:	n/a	n/a
12	CHD2	chr4:26320565-26323397	GM12878	blood:	n/a	chr4:26321233-26321242 chr4:26322612-26322621 chr4:26322485-26322495
13	GTF2F1	chr4:26323128-26323228	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr4:26320721-26323956	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr4:26320643-26323275	GM12878	blood:	n/a	n/a
16	TCF7L2	chr4:26321212-26323742	Hela-S3	cervix:	n/a	chr4:26323196-26323205
17	ZNF143	chr4:26323062-26323256	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr4:26320553-26323344	HL-60	blood:	n/a	n/a
19	POLR2A	chr4:26323009-26323521	GM12891	blood:	n/a	n/a
20	CHD2	chr4:26320726-26323753	K562	blood:	n/a	chr4:26321233-26321242 chr4:26322612-26322621 chr4:26322485-26322495
21	POLR2A	chr4:26320632-26323237	GM18951	blood:	n/a	n/a
22	POLR2A	chr4:26322904-26323548	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr4:26320639-26323229	H1-hESC	embryonic stem cell:	n/a	chr4:26321233-26321242 chr4:26322612-26322621 chr4:26322485-26322495
24	JUN	chr4:26320429-26324200	K562	blood:	n/a	chr4:26320731-26320738 chr4:26323579-26323588 chr4:26321412-26321426 chr4:26320719-26320727 chr4:26320731-26320739
25	POLR2A	chr4:26322937-26324695	U87	brain:	n/a	n/a
26	REST	chr4:26320592-26324055	H1-neurons	neurons:	n/a	chr4:26323177-26323190
27	POLR2A	chr4:26320610-26323804	GM19193	blood:	n/a	n/a
28	POLR2A	chr4:26322927-26323215	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr4:26320530-26323356	GM19099	blood:	n/a	n/a
30	POLR2A	chr4:26323024-26323282	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr4:26323054-26323174	MCF10A-Er-Src	breast:	n/a	n/a
32	RCOR1	chr4:26320001-26323641	IMR90	lung:	n/a	n/a
33	YY1	chr4:26322096-26323187	HepG2	liver:	n/a	chr4:26322751-26322760 chr4:26322573-26322584 chr4:26322749-26322760 chr4:26323044-26323058 chr4:26322509-26322518 chr4:26322506-26322515 chr4:26322507-26322518
34	EBF1	chr4:26322910-26323328	GM12878	blood:	n/a	n/a
35	UBTF	chr4:26322240-26323168	K562	blood:	n/a	n/a
36	UBTF	chr4:26320596-26323832	K562	blood:	n/a	n/a
37	MAZ	chr4:26323080-26323324	GM12878	blood:	n/a	n/a
38	CTBP2	chr4:26322940-26323902	H1-hESC	embryonic stem cell:	n/a	n/a
39	E2F4	chr4:26323123-26323473	MCF10A-Er-Src	breast:	n/a	n/a
40	TCF7L2	chr4:26320536-26323340	HCT-116	colon:	n/a	chr4:26323196-26323205
41	POLR2A	chr4:26320576-26323982	HL-60	blood:	n/a	n/a
42	POLR2A	chr4:26320768-26323483	HepG2	liver:	n/a	n/a
43	POLR2A	chr4:26320612-26323518	GM12892	blood:	n/a	n/a
44	POLR2A	chr4:26320586-26323404	Raji	blood:	n/a	n/a
45	POLR2A	chr4:26320438-26323780	Hela-S3	cervix:	n/a	n/a
46	SMARCB1	chr4:26320706-26323419	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr4:26320540-26323534	GM15510	blood:	n/a	n/a
48	YY1	chr4:26321965-26323346	K562	blood:	n/a	chr4:26322751-26322760 chr4:26322573-26322584 chr4:26322749-26322760 chr4:26323044-26323058 chr4:26322509-26322518 chr4:26322506-26322515 chr4:26322507-26322518
49	POLR2A	chr4:26322954-26323264	ProgFib	skin:	n/a	n/a
50	MXI1	chr4:26320607-26324274	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:25378479..25380375-chr4:26321026..26323579,2	K562	blood:
2	chr4:26319239..26325766-chr4:26360124..26364446,7	MCF-7	breast:

Variant related genes	Relation type
RBPJ	TF binding region
ENSG00000168214	Chromatin interaction
ENSG00000053900	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10939104	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11726888	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13109842	0.81[EUR][1000 genomes]
rs13114817	0.80[ASN][1000 genomes]
rs13128399	0.80[EUR][1000 genomes]
rs13135696	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13144326	0.80[EUR][1000 genomes]
rs1877207	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs3762930	0.80[EUR][1000 genomes]
rs56035229	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829889	chr4:26169954-26338313	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26319800-26324800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr4:26320000-26323600	Active TSS	Rectal Smooth Muscle	rectum
3	chr4:26320000-26324200	Active TSS	Hela-S3	cervix
4	chr4:26320200-26323800	Active TSS	K562	blood
5	chr4:26320200-26324000	Active TSS	A549	lung
6	chr4:26320200-26324400	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr4:26320200-26324800	Active TSS	HSMMtube	muscle
8	chr4:26320200-26325200	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr4:26320200-26326200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:26320400-26324200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:26320400-26324200	Active TSS	Fetal Intestine Large	intestine
12	chr4:26320400-26324400	Active TSS	HSMM	muscle
13	chr4:26320400-26324600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:26320400-26324600	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr4:26320400-26324600	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr4:26320400-26324600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:26320400-26324800	Active TSS	H1 Cell Line	embryonic stem cell
18	chr4:26320400-26324800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:26320400-26325400	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr4:26320400-26325400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:26320400-26326000	Active TSS	Fetal Brain Female	brain
22	chr4:26320600-26323200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:26320600-26323200	Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr4:26320600-26323200	Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr4:26320600-26323200	Active TSS	Thymus	Thymus
26	chr4:26320600-26323400	Active TSS	Brain Hippocampus Middle	brain
27	chr4:26320600-26323400	Active TSS	Right Ventricle	heart
28	chr4:26320600-26323600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:26320600-26323600	Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr4:26320600-26323600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:26320600-26323600	Active TSS	Brain Cingulate Gyrus	brain
32	chr4:26320600-26323600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr4:26320600-26323600	Active TSS	Esophagus	oesophagus
34	chr4:26320600-26323600	Active TSS	Lung	lung
35	chr4:26320600-26323600	Active TSS	Placenta Amnion	Placenta Amnion
36	chr4:26320600-26323600	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr4:26320600-26323800	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr4:26320600-26323800	Active TSS	Brain Substantia Nigra	brain
39	chr4:26320600-26323800	Active TSS	Colon Smooth Muscle	Colon
40	chr4:26320600-26323800	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr4:26320600-26323800	Active TSS	Fetal Intestine Small	intestine
42	chr4:26320600-26323800	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr4:26320600-26323800	Active TSS	Small Intestine	intestine
44	chr4:26320600-26323800	Active TSS	NHEK	skin
45	chr4:26320600-26324000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:26320600-26324000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:26320600-26324000	Active TSS	Aorta	Aorta
48	chr4:26320600-26324000	Active TSS	Fetal Lung	lung
49	chr4:26320600-26324000	Active TSS	Fetal Stomach	stomach
50	chr4:26320600-26324000	Active TSS	Left Ventricle	heart

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