Variant report

Variant	rs538240356
Chromosome Location	chr4:110355852-110355853
allele	C/G
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	MXI1	chr4:110353193-110356505	SK-N-SH	brain:	n/a	n/a
2	MXI1	chr4:110355460-110356134	GM12878	blood:	n/a	n/a
3	MAZ	chr4:110353711-110356050	IMR90	lung:	n/a	chr4:110355382-110355392 chr4:110355379-110355388 chr4:110354792-110354801
4	ZMIZ1	chr4:110355738-110356002	K562	blood:	n/a	n/a
5	STAT3	chr4:110355645-110355942	MCF10A-Er-Src	breast:	n/a	n/a
6	MAX	chr4:110354272-110356028	K562	blood:	n/a	chr4:110355382-110355392 chr4:110355379-110355388 chr4:110354792-110354801
7	BHLHE40	chr4:110355604-110356009	K562	blood:	n/a	chr4:110355801-110355817
8	MAX	chr4:110355385-110355925	ECC-1	luminal epithelium:	n/a	n/a
9	RCOR1	chr4:110355519-110356145	K562	blood:	n/a	n/a
10	POLR2A	chr4:110353884-110356930	MCF10A-Er-Src	breast:	n/a	n/a
11	NR2F2	chr4:110355563-110355951	K562	blood:	n/a	n/a
12	SIN3A	chr4:110354343-110356379	H1-hESC	embryonic stem cell:	n/a	n/a
13	TCF7L2	chr4:110355598-110355932	Hela-S3	cervix:	n/a	n/a
14	MAX	chr4:110354320-110355911	HepG2	liver:	n/a	chr4:110355382-110355392 chr4:110355379-110355388 chr4:110354792-110354801
15	REST	chr4:110353662-110356362	H1-neurons	neurons:	n/a	chr4:110354626-110354639 chr4:110354721-110354734
16	POLR2A	chr4:110355542-110356156	PFSK-1	brain:	n/a	n/a
17	RCOR1	chr4:110355793-110355953	HepG2	liver:	n/a	n/a
18	MYC	chr4:110355681-110356049	MCF10A-Er-Src	breast:	n/a	n/a
19	MAX	chr4:110355513-110356162	Hela-S3	cervix:	n/a	n/a
20	MXI1	chr4:110355390-110357417	IMR90	lung:	n/a	n/a
21	UBTF	chr4:110354341-110355894	K562	blood:	n/a	n/a
22	MAX	chr4:110355473-110356045	SK-N-SH	brain:	n/a	n/a
23	RAD21	chr4:110355548-110356099	IMR90	lung:	n/a	n/a
24	POLR2A	chr4:110355556-110355865	ProgFib	skin:	n/a	n/a
25	MXI1	chr4:110355579-110356169	Hela-S3	cervix:	n/a	n/a
26	SIN3A	chr4:110355564-110355936	GM12878	blood:	n/a	n/a
27	BHLHE40	chr4:110355545-110356014	GM12878	blood:	n/a	chr4:110355801-110355817
28	MAX	chr4:110355450-110355889	ECC-1	luminal epithelium:	n/a	n/a
29	UBTF	chr4:110354307-110356009	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:110353826..110356085-chr4:110735938..110738635,3	MCF-7	breast:
2	chr4:110351870..110353542-chr4:110355047..110357946,2	MCF-7	breast:
3	chr14:105261712..105263242-chr4:110355266..110356786,2	MCF-7	breast:
4	chr4:109540362..109542277-chr4:110353620..110356489,2	K562	blood:
5	chr4:110354680..110356371-chr4:110650734..110652526,2	MCF-7	breast:
6	chr4:110353323..110356452-chr4:110478874..110481567,4	MCF-7	breast:

Variant related genes	Relation type
SEC24B-AS1	TF binding region
ENSG00000109534	Chromatin interaction
ENSG00000272795	Chromatin interaction
ENSG00000142208	Chromatin interaction
ENSG00000005059	Chromatin interaction
ENSG00000109475	Chromatin interaction
ENSG00000234492	Chromatin interaction
ENSG00000123739	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv3325631	chr4:110354028-110356876	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv3341942	chr4:110354303-110356451	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv1836921	chr4:110354632-110370867	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv1839822	chr4:110354632-110370867	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr4:110353400-110356600	Active TSS	K562	blood
2	chr4:110353600-110357000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:110353800-110356000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:110353800-110356000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:110353800-110356000	Active TSS	Fetal Intestine Large	intestine
6	chr4:110353800-110356400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:110353800-110356400	Active TSS	HSMM	muscle
8	chr4:110353800-110356600	Active TSS	H1 Cell Line	embryonic stem cell
9	chr4:110353800-110356800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:110353800-110357000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:110354000-110356000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:110354000-110356000	Active TSS	Esophagus	oesophagus
13	chr4:110354000-110356000	Active TSS	Fetal Brain Female	brain
14	chr4:110354000-110356000	Active TSS	Fetal Stomach	stomach
15	chr4:110354000-110356200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:110354000-110356200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr4:110354000-110356200	Bivalent/Poised TSS	HepG2	liver
18	chr4:110354000-110356400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr4:110354000-110356400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:110354000-110356400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:110354000-110356400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:110354000-110356400	Active TSS	Brain Germinal Matrix	brain
23	chr4:110354000-110356400	Active TSS	Right Ventricle	heart
24	chr4:110354000-110356600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:110354000-110356800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr4:110354000-110356800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:110354000-110356800	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr4:110354000-110356800	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr4:110354000-110356800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:110354000-110356800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:110354000-110356800	Active TSS	Colonic Mucosa	Colon
32	chr4:110354000-110356800	Active TSS	Right Atrium	heart
33	chr4:110354000-110356800	Active TSS	A549	lung
34	chr4:110354000-110356800	Active TSS	NHDF-Ad	bronchial
35	chr4:110354000-110357000	Active TSS	HMEC	breast
36	chr4:110354200-110356000	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr4:110354200-110356000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:110354200-110356000	Active TSS	Brain Anterior Caudate	brain
39	chr4:110354200-110356000	Active TSS	Fetal Intestine Small	intestine
40	chr4:110354200-110356000	Active TSS	Fetal Lung	lung
41	chr4:110354200-110356000	Active TSS	Placenta Amnion	Placenta Amnion
42	chr4:110354200-110356000	Active TSS	Hela-S3	cervix
43	chr4:110354200-110356200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:110354200-110356200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:110354200-110356200	Active TSS	Brain Angular Gyrus	brain
46	chr4:110354200-110356200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:110354200-110356200	Active TSS	Brain Substantia Nigra	brain
48	chr4:110354200-110356400	Active TSS	Ovary	ovary
49	chr4:110354200-110356400	Active TSS	NHLF	lung
50	chr4:110354200-110356600	Active TSS	iPS-15b Cell Line	embryonic stem cell

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