Variant report

Variant	rs534941554
Chromosome Location	chr4:166129128-166129129
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	UBTF	chr4:166128402-166129207	K562	blood:	n/a	n/a
2	POLR2A	chr4:166128036-166129469	Hela-S3	cervix:	n/a	n/a
3	MAX	chr4:166128185-166129425	K562	blood:	n/a	n/a
4	PAX5	chr4:166128654-166129257	GM12891	blood:	n/a	chr4:166129163-166129190 chr4:166129167-166129186
5	E2F6	chr4:166128986-166129160	K562	blood:	n/a	n/a
6	MAX	chr4:166128432-166129330	K562	blood:	n/a	n/a
7	CCNT2	chr4:166128393-166129240	K562	blood:	n/a	n/a
8	POLR2A	chr4:166128225-166129296	HepG2	liver:	n/a	n/a
9	HEY1	chr4:166128610-166129138	HepG2	liver:	n/a	chr4:166129069-166129084 chr4:166129064-166129079 chr4:166129118-166129133 chr4:166129095-166129110 chr4:166129096-166129111
10	YY1	chr4:166128477-166129197	K562	blood:	n/a	chr4:166128730-166128744 chr4:166129144-166129158 chr4:166128686-166128697 chr4:166129147-166129161 chr4:166129119-166129133 chr4:166129097-166129108 chr4:166129150-166129161
11	MAX	chr4:166128068-166129172	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr4:166128523-166129406	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr4:166128413-166129129	MCF-7	breast:	n/a	n/a
14	POLR2A	chr4:166128263-166129395	GM18526	blood:	n/a	n/a
15	POLR2A	chr4:166128453-166129419	GM12878	blood:	n/a	n/a
16	MAX	chr4:166128215-166129151	A549	lung:	n/a	n/a
17	CTCF	chr4:166128980-166129130	GM12870	blood:	n/a	n/a
18	PAX5	chr4:166128863-166129432	GM12878	blood:	n/a	chr4:166129163-166129190 chr4:166129167-166129186
19	POLR2A	chr4:166129116-166129230	A549	lung:	n/a	n/a
20	SMARCB1	chr4:166128289-166129373	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr4:166128234-166129133	Gliobla	brain:	n/a	n/a
22	TAF1	chr4:166128418-166129291	H1-hESC	embryonic stem cell:	n/a	n/a
23	RCOR1	chr4:166127586-166129783	IMR90	lung:	n/a	n/a
24	POLR2A	chr4:166128399-166129399	HL-60	blood:	n/a	n/a
25	TBP	chr4:166128633-166129512	H1-hESC	embryonic stem cell:	n/a	n/a
26	GATA1	chr4:166128457-166129511	PBDE	blood:	n/a	n/a
27	GATA2	chr4:166128998-166129705	SH-SY5Y	brain:	n/a	chr4:166129685-166129696
28	EP300	chr4:166128961-166129134	HepG2	liver:	n/a	chr4:166129067-166129083 chr4:166129115-166129124 chr4:166129116-166129132
29	MAZ	chr4:166127729-166129602	IMR90	lung:	n/a	n/a
30	UBTF	chr4:166128206-166129612	K562	blood:	n/a	n/a
31	POLR2A	chr4:166128215-166129221	NB4	blood:	n/a	n/a
32	POLR2A	chr4:166128598-166129215	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr4:166128407-166129224	HEK293	kidney:	n/a	n/a
34	POLR2A	chr4:166128404-166129334	K562	blood:	n/a	n/a
35	YY1	chr4:166128360-166129345	HepG2	liver:	n/a	chr4:166128730-166128744 chr4:166129144-166129158 chr4:166128686-166128697 chr4:166129147-166129161 chr4:166129119-166129133 chr4:166129097-166129108 chr4:166129150-166129161
36	POLR2A	chr4:166128248-166129427	GM12892	blood:	n/a	n/a
37	ELF1	chr4:166128398-166129189	K562	blood:	n/a	chr4:166128745-166128758 chr4:166129121-166129133 chr4:166128748-166128757 chr4:166128747-166128758 chr4:166128747-166128758 chr4:166129147-166129159
38	MAZ	chr4:166128158-166129521	K562	blood:	n/a	n/a
39	CHD2	chr4:166128381-166129193	Hela-S3	cervix:	n/a	chr4:166129156-166129166
40	ZNF143	chr4:166128549-166129454	GM12878	blood:	n/a	chr4:166129123-166129133 chr4:166129159-166129177
41	MYC	chr4:166128963-166129143	H1-hESC	embryonic stem cell:	n/a	n/a
42	ETS1	chr4:166128686-166129237	K562	blood:	n/a	chr4:166128749-166128760 chr4:166128745-166128761 chr4:166129166-166129179 chr4:166128749-166128758 chr4:166128750-166128760 chr4:166128749-166128758
43	POLR2A	chr4:166128013-166129400	GM19099	blood:	n/a	n/a
44	MAX	chr4:166127983-166129419	HepG2	liver:	n/a	n/a
45	CTCF	chr4:166129120-166129270	SK-N-SH_RA	brain:	n/a	chr4:166129154-166129167
46	POLR2A	chr4:166128145-166129531	GM19193	blood:	n/a	n/a
47	CREB1	chr4:166128056-166129241	HepG2	liver:	n/a	n/a
48	POLR2A	chr4:166128245-166129390	Hela-S3	cervix:	n/a	n/a
49	YY1	chr4:166128602-166129220	ECC-1	luminal epithelium:	n/a	chr4:166128730-166128744 chr4:166129144-166129158 chr4:166128686-166128697 chr4:166129147-166129161 chr4:166129119-166129133 chr4:166129097-166129108 chr4:166129150-166129161
50	MXI1	chr4:166128108-166129488	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:166128531..166130929-chr4:166246215..166249595,5	MCF-7	breast:
2	chr4:166126308..166130366-chr4:166247405..166251145,5	K562	blood:
3	chr4:166127800..166130090-chr4:166130347..166132969,2	MCF-7	breast:
4	chr4:166127386..166130072-chr4:166247171..166250406,6	MCF-7	breast:
5	chr4:166032812..166034984-chr4:166128697..166130341,2	K562	blood:
6	chr4:166127276..166130366-chr4:166247405..166250443,3	K562	blood:

Variant related genes	Relation type
KLHL2	TF binding region
ENSG00000052802	Chromatin interaction
ENSG00000109466	Chromatin interaction
ENSG00000170088	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv881168	chr4:165975122-166196438	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv3357278	chr4:166127527-166130075	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
7	esv3444781	chr4:166127852-166130050	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
8	esv3341185	chr4:166127927-166130475	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
9	esv11071	chr4:166128437-166129207	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
10	nsv596050	chr4:166128515-166129173	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
11	nsv596051	chr4:166128632-166129173	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166127600-166129200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr4:166127600-166129400	Active TSS	Hela-S3	cervix
3	chr4:166127600-166129800	Active TSS	Colonic Mucosa	Colon
4	chr4:166127800-166129800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr4:166127800-166129800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:166127800-166129800	Active TSS	Ovary	ovary
7	chr4:166127800-166130200	Active TSS	Psoas Muscle	Psoas
8	chr4:166127800-166130400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr4:166128000-166129200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:166128000-166129600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:166128000-166129600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:166128000-166129600	Active TSS	Gastric	stomach
13	chr4:166128000-166130000	Active TSS	Brain Hippocampus Middle	brain
14	chr4:166128000-166130000	Active TSS	A549	lung
15	chr4:166128000-166130200	Active TSS	Aorta	Aorta
16	chr4:166128000-166130200	Active TSS	Left Ventricle	heart
17	chr4:166128000-166130200	Active TSS	Right Ventricle	heart
18	chr4:166128000-166130200	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr4:166128000-166130600	Active TSS	Lung	lung
20	chr4:166128000-166131400	Active TSS	Esophagus	oesophagus
21	chr4:166128200-166129200	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr4:166128200-166129200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:166128200-166129400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:166128200-166129400	Active TSS	Primary B cells from cord blood	blood
25	chr4:166128200-166129400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:166128200-166129400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr4:166128200-166129400	Active TSS	Fetal Intestine Large	intestine
28	chr4:166128200-166129400	Transcr. at gene 5' and 3'	Right Atrium	heart
29	chr4:166128200-166129600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:166128200-166129600	Active TSS	Colon Smooth Muscle	Colon
31	chr4:166128200-166129600	Active TSS	Small Intestine	intestine
32	chr4:166128200-166129800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:166128200-166129800	Active TSS	Placenta Amnion	Placenta Amnion
34	chr4:166128200-166130000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:166128200-166130000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:166128200-166130000	Active TSS	Brain Cingulate Gyrus	brain
37	chr4:166128200-166130000	Active TSS	Rectal Smooth Muscle	rectum
38	chr4:166128200-166130200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:166128200-166130200	Active TSS	NHLF	lung
40	chr4:166128200-166130400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
41	chr4:166128200-166130400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr4:166128200-166130400	Active TSS	Brain Anterior Caudate	brain
43	chr4:166128200-166130400	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr4:166128200-166130600	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr4:166128200-166131000	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr4:166128400-166129200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr4:166128400-166129200	Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr4:166128400-166129200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:166128400-166129200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:166128400-166129200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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