Variant report

Variant	rs576760284
Chromosome Location	chr4:110223293-110223294
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:110222652-110224622	Hela-S3	cervix:	n/a	n/a
2	SMARCC1	chr4:110222938-110224752	Hela-S3	cervix:	n/a	n/a
3	BACH1	chr4:110223066-110224582	H1-hESC	embryonic stem cell:	n/a	n/a
4	SMARCB1	chr4:110222744-110224609	Hela-S3	cervix:	n/a	n/a
5	E2F6	chr4:110222693-110224729	H1-hESC	embryonic stem cell:	n/a	chr4:110223966-110223975 chr4:110223712-110223719 chr4:110223709-110223724 chr4:110223712-110223719 chr4:110224063-110224075 chr4:110223712-110223719
6	MAX	chr4:110223249-110224690	H1-hESC	embryonic stem cell:	n/a	chr4:110223549-110223558
7	POLR2A	chr4:110223156-110224477	H1-neurons	neurons:	n/a	n/a
8	E2F6	chr4:110222639-110224837	H1-hESC	embryonic stem cell:	n/a	chr4:110223966-110223975 chr4:110223712-110223719 chr4:110223709-110223724 chr4:110223712-110223719 chr4:110224063-110224075 chr4:110223712-110223719
9	POLR2A	chr4:110222620-110224651	Hela-S3	cervix:	n/a	n/a
10	MAX	chr4:110222734-110224724	H1-hESC	embryonic stem cell:	n/a	chr4:110222849-110222856 chr4:110223549-110223558 chr4:110222847-110222857
11	CTBP2	chr4:110222906-110224632	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:110223252-110223302	NH-A	brain:	n/a
2	chr4:110223252-110223302	NHDF-neo	bronchial:	n/a
3	chr4:110223252-110223302	HepG2	liver:	n/a
4	chr4:110223252-110223302	AG09319	gingival:	n/a
5	chr4:110223252-110223302	Caco-2	colon:	n/a
6	chr4:110223252-110223302	H1-hESC	embryonic stem cell:	embryo
7	chr4:110223252-110223302	SK-N-SH_RA	brain:	n/a
8	chr4:110223252-110223302	HEEpiC	esophagus:	n/a
9	chr4:110223252-110223302	HCF	heart:	n/a
10	chr4:110223252-110223302	NB4	blood:	n/a
11	chr4:110223252-110223302	GM12891	blood:	n/a
12	chr4:110223252-110223302	HEK293	kidney:	embryo
13	chr4:110223252-110223302	HCT-116	colon:	n/a
14	chr4:110223252-110223302	PFSK-1	brain:	n/a
15	chr4:110223252-110223302	Jurkat	blood:	n/a
16	chr4:110223252-110223302	ProgFib	skin:	n/a
17	chr4:110223252-110223302	HNPCEpiC	eye:	n/a
18	chr4:110223252-110223302	HRPEpiC	eye:	n/a
19	chr4:110223252-110223302	HRCEpiC	kidney:	n/a
20	chr4:110223252-110223302	HRE	kidney:	n/a
21	chr4:110223252-110223302	LNCaP	prostate:	n/a
22	chr4:110223252-110223302	AG10803	skin:	n/a
23	chr4:110223252-110223302	MCF10A-Er-Src	breast:	n/a
24	chr4:110223252-110223302	MCF-7	breast:	n/a
25	chr4:110223252-110223302	PANC-1	pancreas:	n/a
26	chr4:110223252-110223302	SK-N-MC	brain:	n/a
27	chr4:110223252-110223302	HPAEpiC	pulmonary alveolar:	n/a
28	chr4:110223252-110223302	A549	lung:	n/a
29	chr4:110223252-110223302	Hepatocyte	liver:	n/a
30	chr4:110223252-110223302	PrEC	prostate:	n/a
31	chr4:110223252-110223302	NHBE	bronchial:	n/a
32	chr4:110223252-110223302	U87	brain:	n/a
33	chr4:110223252-110223302	HCPEpiC	choroid plexus:	n/a
34	chr4:110223252-110223302	AoSMC	blood vessel:	n/a
35	chr4:110223252-110223302	SKMC	muscle:	n/a
36	chr4:110223252-110223302	HAEpiC	amniotic membrane:	n/a
37	chr4:110223252-110223302	HL-60	blood:	n/a
38	chr4:110223252-110223302	GM12892	blood:	n/a
39	chr4:110223252-110223302	AG04450	lung:	fetal
40	chr4:110223252-110223302	HCM	heart:	n/a
41	chr4:110223252-110223302	CMK	blood:	n/a
42	chr4:110223252-110223302	RPTEC	kidney:	n/a
43	chr4:110223252-110223302	NT2-D1	testis:	n/a
44	chr4:110223252-110223302	SAEC	small airway:	n/a
45	chr4:110223252-110223302	T-47D	breast:	n/a
46	chr4:110223252-110223302	IMR90	lung:	fetal
47	chr4:110223252-110223302	BJ	skin:	n/a
48	chr4:110223252-110223302	BE2_C	brain:	n/a
49	chr4:110223252-110223302	SK-N-SH	brain:	n/a
50	chr4:110223252-110223302	GM12878	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:82782990..82783526-chr4:110222986..110223918,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEC24B-1	chr4:110222877-110223861	NONHSAT097774

No data

Variant related genes	Relation type
ENSG00000246774	TF binding region
ENSG00000246774	CpG island
ENSG00000246067	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv515893	chr4:110222845-110254841	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110221600-110224200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
2	chr4:110221800-110224600	Active TSS	Hela-S3	cervix
3	chr4:110222200-110224600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:110222600-110223400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr4:110222600-110223400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
6	chr4:110222600-110223400	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
7	chr4:110222600-110223400	Bivalent Enhancer	Fetal Brain Male	brain
8	chr4:110222600-110223800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr4:110222600-110223800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
10	chr4:110222600-110223800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
11	chr4:110222600-110223800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
12	chr4:110222600-110224400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr4:110222600-110224800	Active TSS	HSMMtube	muscle
14	chr4:110222800-110223400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:110222800-110223400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
16	chr4:110222800-110223400	Bivalent Enhancer	Liver	Liver
17	chr4:110222800-110223400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
18	chr4:110222800-110223400	Enhancers	Fetal Heart	heart
19	chr4:110222800-110223400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
20	chr4:110222800-110223400	Enhancers	Gastric	stomach
21	chr4:110222800-110223400	Enhancers	Lung	lung
22	chr4:110222800-110223400	Flanking Active TSS	Ovary	ovary
23	chr4:110222800-110223400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
24	chr4:110222800-110223600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr4:110222800-110223600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
26	chr4:110222800-110223600	Bivalent Enhancer	Placenta	Placenta
27	chr4:110222800-110223600	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
28	chr4:110222800-110223800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:110222800-110223800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
30	chr4:110222800-110223800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
31	chr4:110222800-110223800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
32	chr4:110222800-110223800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
33	chr4:110222800-110224200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
34	chr4:110222800-110224400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr4:110222800-110224600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:110222800-110224600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
37	chr4:110222800-110224600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:110222800-110224600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
39	chr4:110222800-110224600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
40	chr4:110222800-110224600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
41	chr4:110222800-110224800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:110222800-110225000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr4:110223000-110223400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:110223000-110223400	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
45	chr4:110223000-110223400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
46	chr4:110223000-110223400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
47	chr4:110223000-110223400	Flanking Active TSS	Psoas Muscle	Psoas
48	chr4:110223000-110223400	Bivalent Enhancer	HMEC	breast
49	chr4:110223000-110223400	Flanking Active TSS	HSMM	muscle
50	chr4:110223000-110223600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell

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