Variant report

Variant	rs574261952
Chromosome Location	chr4:90031781-90031782
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	MAX	chr4:90031662-90033107	K562	blood:	n/a	chr4:90032609-90032618 chr4:90032634-90032644
2	GABPA	chr4:90031608-90032150	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr4:90031760-90031910	HCPEpiC	choroid plexus:	n/a	n/a
4	MXI1	chr4:90031599-90033231	GM12878	blood:	n/a	chr4:90031789-90031804
5	BHLHE40	chr4:90031774-90033235	K562	blood:	n/a	chr4:90032093-90032109 chr4:90031987-90032003
6	MAX	chr4:90031702-90033805	A549	lung:	n/a	chr4:90032609-90032618 chr4:90032634-90032644
7	POLR2A	chr4:90031741-90033492	GM19099	blood:	n/a	n/a
8	E2F6	chr4:90031734-90033155	H1-hESC	embryonic stem cell:	n/a	chr4:90032663-90032672 chr4:90032574-90032586 chr4:90032633-90032642 chr4:90032628-90032638
9	TBL1XR1	chr4:90031691-90031825	GM12878	blood:	n/a	n/a
10	POLR2A	chr4:90031758-90033089	MCF-7	breast:	n/a	n/a
11	E2F6	chr4:90031686-90033217	H1-hESC	embryonic stem cell:	n/a	chr4:90032663-90032672 chr4:90032574-90032586 chr4:90032633-90032642 chr4:90032628-90032638
12	MYC	chr4:90031682-90032925	A549	lung:	n/a	chr4:90032609-90032618 chr4:90032634-90032644
13	RCOR1	chr4:90031590-90032995	GM12878	blood:	n/a	n/a
14	MYC	chr4:90031728-90033645	K562	blood:	n/a	chr4:90032609-90032618 chr4:90032634-90032644
15	MXI1	chr4:90031723-90034038	HepG2	liver:	n/a	chr4:90031789-90031804
16	ARID3A	chr4:90031746-90032396	HepG2	liver:	n/a	n/a
17	USF2	chr4:90031770-90032744	GM12878	blood:	n/a	chr4:90032093-90032109 chr4:90031987-90032003
18	MXI1	chr4:90031727-90032024	H1-hESC	embryonic stem cell:	n/a	chr4:90031789-90031804
19	POLR2A	chr4:90031750-90033337	GM12878	blood:	n/a	n/a
20	MAX	chr4:90031663-90033047	H1-hESC	embryonic stem cell:	n/a	chr4:90032609-90032618 chr4:90032634-90032644
21	RCOR1	chr4:90031445-90033946	K562	blood:	n/a	n/a
22	WRNIP1	chr4:90031705-90033370	GM12878	blood:	n/a	n/a
23	MAZ	chr4:90031500-90033296	K562	blood:	n/a	chr4:90032609-90032618 chr4:90032634-90032644
24	SIN3A	chr4:90031671-90033679	H1-hESC	embryonic stem cell:	n/a	chr4:90031994-90032003 chr4:90032056-90032070 chr4:90031990-90032004 chr4:90032616-90032627 chr4:90031996-90032004
25	REST	chr4:90031556-90033473	H1-neurons	neurons:	n/a	chr4:90031993-90032003 chr4:90032055-90032069 chr4:90032055-90032075 chr4:90031991-90032005 chr4:90032057-90032067 chr4:90032055-90032075 chr4:90032059-90032072 chr4:90031988-90032001 chr4:90032056-90032074
26	MAX	chr4:90031578-90033199	ECC-1	luminal epithelium:	n/a	chr4:90032609-90032618 chr4:90032634-90032644
27	TBP	chr4:90031679-90032139	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr4:90031680-90033090	H1-hESC	embryonic stem cell:	n/a	chr4:90032609-90032618 chr4:90032634-90032644
29	MYC	chr4:90031577-90033521	K562	blood:	n/a	chr4:90032609-90032618 chr4:90032634-90032644
30	E2F6	chr4:90031775-90033218	A549	lung:	n/a	chr4:90032663-90032672 chr4:90032574-90032586 chr4:90032633-90032642 chr4:90032628-90032638
31	CTCF	chr4:90031634-90033263	SK-N-SH	brain:	n/a	n/a
32	MXI1	chr4:90030919-90033825	SK-N-SH	brain:	n/a	chr4:90031789-90031804
33	TCF12	chr4:90031725-90033905	A549	lung:	n/a	n/a
34	E2F6	chr4:90031737-90033048	K562	blood:	n/a	chr4:90032663-90032672 chr4:90032574-90032586 chr4:90032633-90032642 chr4:90032628-90032638
35	CTCF	chr4:90031311-90033365	A549	lung:	n/a	n/a
36	MAX	chr4:90031672-90031986	H1-hESC	embryonic stem cell:	n/a	n/a
37	SETDB1	chr4:90031327-90033996	U2OS	brain:	n/a	n/a
38	HCFC1	chr4:90031624-90033248	K562	blood:	n/a	n/a
39	GABPA	chr4:90031608-90032246	MCF-7	breast:	n/a	n/a
40	POLR2A	chr4:90031640-90033194	H1-neurons	neurons:	n/a	n/a
41	MXI1	chr4:90031119-90033780	IMR90	lung:	n/a	chr4:90031789-90031804
42	MAX	chr4:90031748-90033179	K562	blood:	n/a	chr4:90032609-90032618 chr4:90032634-90032644
43	MAX	chr4:90031602-90033894	A549	lung:	n/a	chr4:90032609-90032618 chr4:90032634-90032644
44	RELA	chr4:90031722-90033075	GM18951	blood:	n/a	n/a
45	POLR2A	chr4:90031723-90036966	HepG2	liver:	n/a	n/a
46	GABPA	chr4:90031505-90032440	MCF-7	breast:	n/a	n/a
47	GABPA	chr4:90031695-90032033	K562	blood:	n/a	n/a
48	MAZ	chr4:90031671-90034255	IMR90	lung:	n/a	chr4:90032609-90032618 chr4:90032634-90032644
49	CHD2	chr4:90031640-90032085	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAX	chr4:90031559-90033044	ECC-1	luminal epithelium:	n/a	chr4:90032609-90032618 chr4:90032634-90032644

No.	Distal block	Cell Line	Cell type
1	chr4:89443831..89446134-chr4:90031080..90033028,2	K562	blood:
2	chr4:89739934..89740458-chr4:90031072..90031943,2	K562	blood:
3	chr4:90021012..90023295-chr4:90030744..90032396,2	K562	blood:
4	chr4:90030188..90033002-chr4:90049823..90052502,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271359	TF binding region
TIGD2	TF binding region
ENSG00000138641	Chromatin interaction
ENSG00000145337	Chromatin interaction
ENSG00000212226	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1002448	chr4:89933385-90128133	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3437234	chr4:90031454-90034302	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr4:90024200-90031800	Weak transcription	Aorta	Aorta
2	chr4:90030800-90033600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr4:90031000-90033400	Active TSS	Pancreas	Pancrea
4	chr4:90031200-90031800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:90031200-90031800	Bivalent Enhancer	Fetal Thymus	thymus
6	chr4:90031200-90033000	Active TSS	Fetal Brain Female	brain
7	chr4:90031200-90033200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr4:90031200-90033400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr4:90031400-90031800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:90031400-90031800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
11	chr4:90031400-90031800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
12	chr4:90031400-90031800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr4:90031400-90031800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr4:90031400-90031800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:90031400-90031800	Flanking Active TSS	Brain Cingulate Gyrus	brain
16	chr4:90031400-90031800	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr4:90031400-90031800	Flanking Active TSS	Fetal Brain Male	brain
18	chr4:90031400-90031800	Flanking Active TSS	Fetal Kidney	kidney
19	chr4:90031400-90031800	Enhancers	Gastric	stomach
20	chr4:90031400-90031800	Active TSS	Stomach Smooth Muscle	stomach
21	chr4:90031400-90032000	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:90031400-90032000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:90031400-90032000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:90031400-90032000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:90031400-90032000	Flanking Active TSS	Liver	Liver
26	chr4:90031400-90032000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr4:90031400-90032000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
28	chr4:90031400-90032200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
29	chr4:90031400-90032200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr4:90031400-90032200	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr4:90031400-90032200	Flanking Active TSS	Rectal Smooth Muscle	rectum
32	chr4:90031400-90032200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr4:90031400-90032400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:90031400-90032400	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr4:90031400-90032400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
36	chr4:90031400-90033400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
37	chr4:90031400-90033400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr4:90031400-90033600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:90031600-90031800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr4:90031600-90031800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:90031600-90031800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:90031600-90031800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:90031600-90031800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
44	chr4:90031600-90031800	Enhancers	Brain Angular Gyrus	brain
45	chr4:90031600-90031800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
46	chr4:90031600-90031800	Active TSS	Colonic Mucosa	Colon
47	chr4:90031600-90031800	Enhancers	Esophagus	oesophagus
48	chr4:90031600-90031800	Enhancers	Fetal Heart	heart
49	chr4:90031600-90031800	Enhancers	Left Ventricle	heart
50	chr4:90031600-90031800	Enhancers	Lung	lung

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