Variant report

Variant	rs567900781
Chromosome Location	chr4:166129255-166129256
allele	A/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	POLR2A	chr4:166128036-166129469	Hela-S3	cervix:	n/a	n/a
2	MAX	chr4:166128185-166129425	K562	blood:	n/a	n/a
3	PAX5	chr4:166128654-166129257	GM12891	blood:	n/a	chr4:166129163-166129190 chr4:166129167-166129186
4	MAZ	chr4:166129208-166129553	GM12878	blood:	n/a	n/a
5	MAX	chr4:166128432-166129330	K562	blood:	n/a	n/a
6	POLR2A	chr4:166128225-166129296	HepG2	liver:	n/a	n/a
7	POLR2A	chr4:166128523-166129406	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr4:166128263-166129395	GM18526	blood:	n/a	n/a
9	POLR2A	chr4:166128453-166129419	GM12878	blood:	n/a	n/a
10	PAX5	chr4:166128863-166129432	GM12878	blood:	n/a	chr4:166129163-166129190 chr4:166129167-166129186
11	SMARCB1	chr4:166128289-166129373	Hela-S3	cervix:	n/a	n/a
12	TAF1	chr4:166128418-166129291	H1-hESC	embryonic stem cell:	n/a	n/a
13	RCOR1	chr4:166127586-166129783	IMR90	lung:	n/a	n/a
14	POLR2A	chr4:166128399-166129399	HL-60	blood:	n/a	n/a
15	TBP	chr4:166128633-166129512	H1-hESC	embryonic stem cell:	n/a	n/a
16	GATA1	chr4:166128457-166129511	PBDE	blood:	n/a	n/a
17	GATA2	chr4:166128998-166129705	SH-SY5Y	brain:	n/a	chr4:166129685-166129696
18	MAZ	chr4:166127729-166129602	IMR90	lung:	n/a	n/a
19	UBTF	chr4:166128206-166129612	K562	blood:	n/a	n/a
20	POLR2A	chr4:166128404-166129334	K562	blood:	n/a	n/a
21	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
22	POLR2A	chr4:166128248-166129427	GM12892	blood:	n/a	n/a
23	MAZ	chr4:166128158-166129521	K562	blood:	n/a	n/a
24	ZNF143	chr4:166128549-166129454	GM12878	blood:	n/a	chr4:166129123-166129133 chr4:166129159-166129177
25	POLR2A	chr4:166128013-166129400	GM19099	blood:	n/a	n/a
26	MAX	chr4:166127983-166129419	HepG2	liver:	n/a	n/a
27	CTCF	chr4:166129120-166129270	SK-N-SH_RA	brain:	n/a	chr4:166129154-166129167
28	RCOR1	chr4:166129196-166129511	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr4:166128145-166129531	GM19193	blood:	n/a	n/a
30	POLR2A	chr4:166128245-166129390	Hela-S3	cervix:	n/a	n/a
31	MXI1	chr4:166128108-166129488	GM12878	blood:	n/a	n/a
32	MAX	chr4:166128006-166129341	H1-hESC	embryonic stem cell:	n/a	n/a
33	TCF7L2	chr4:166128659-166129395	PANC-1	pancreas:	n/a	n/a
34	ZNF263	chr4:166127798-166129262	HEK293-T-REx	kidney:	n/a	n/a
35	RCOR1	chr4:166127429-166129772	K562	blood:	n/a	n/a
36	POLR2A	chr4:166128426-166129263	K562	blood:	n/a	n/a
37	POLR2A	chr4:166128405-166129385	GM12878	blood:	n/a	n/a
38	WRNIP1	chr4:166129253-166129629	GM12878	blood:	n/a	n/a
39	POLR2A	chr4:166128217-166129461	GM15510	blood:	n/a	n/a
40	HEY1	chr4:166128610-166129294	K562	blood:	n/a	chr4:166129069-166129084 chr4:166129064-166129079 chr4:166129118-166129133 chr4:166129095-166129110 chr4:166129096-166129111
41	E2F6	chr4:166128285-166129335	K562	blood:	n/a	n/a
42	TBP	chr4:166128251-166129281	K562	blood:	n/a	n/a
43	MAX	chr4:166128074-166129367	GM12878	blood:	n/a	n/a
44	TCF7L2	chr4:166128787-166129451	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr4:166128378-166129280	MCF-7	breast:	n/a	n/a
46	TAF1	chr4:166127825-166129313	H1-neurons	neurons:	n/a	n/a
47	BHLHE40	chr4:166128304-166129269	GM12878	blood:	n/a	chr4:166129145-166129161 chr4:166128730-166128746 chr4:166129150-166129166 chr4:166128955-166128971 chr4:166128910-166128926 chr4:166128729-166128745 chr4:166129099-166129115 chr4:166129142-166129158
48	SIN3A	chr4:166127790-166129627	H1-hESC	embryonic stem cell:	n/a	chr4:166129187-166129200 chr4:166128730-166128743 chr4:166129194-166129208 chr4:166129315-166129328
49	ZBTB7A	chr4:166128397-166129366	K562	blood:	n/a	chr4:166128908-166128917
50	CTCF	chr4:166129220-166129370	GM12869	blood:	n/a	chr4:166129334-166129342

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:166129241-166129291	HL-60	blood:	n/a
2	chr4:166129241-166129291	GM12891	blood:	n/a
3	chr4:166129241-166129291	Caco-2	colon:	n/a
4	chr4:166129241-166129291	Hela-S3	cervix:	n/a
5	chr4:166129241-166129291	PANC-1	pancreas:	n/a
6	chr4:166129241-166129291	CMK	blood:	n/a
7	chr4:166129241-166129291	NHBE	bronchial:	n/a
8	chr4:166129241-166129291	HNPCEpiC	eye:	n/a
9	chr4:166129241-166129291	AG09309	skin:	n/a
10	chr4:166129241-166129291	NB4	blood:	n/a
11	chr4:166129241-166129291	HUVEC	blood vessel:	n/a
12	chr4:166129241-166129291	T-47D	breast:	n/a
13	chr4:166129241-166129291	SK-N-MC	brain:	n/a
14	chr4:166129241-166129291	HAEpiC	amniotic membrane:	n/a
15	chr4:166129241-166129291	LNCaP	prostate:	n/a
16	chr4:166129241-166129291	HEK293	kidney:	embryo
17	chr4:166129241-166129291	A549	lung:	n/a
18	chr4:166129241-166129291	HRPEpiC	eye:	n/a
19	chr4:166129241-166129291	HRCEpiC	kidney:	n/a
20	chr4:166129241-166129291	SK-N-SH	brain:	n/a
21	chr4:166129241-166129291	AG04449	skin:	fetal
22	chr4:166129241-166129291	MCF-7	breast:	n/a
23	chr4:166129241-166129291	U87	brain:	n/a
24	chr4:166129241-166129291	BE2_C	brain:	n/a
25	chr4:166129241-166129291	ProgFib	skin:	n/a
26	chr4:166129241-166129291	HCM	heart:	n/a
27	chr4:166129241-166129291	GM06990	blood:	n/a
28	chr4:166129241-166129291	ovcar-3	ovarian:	n/a
29	chr4:166129241-166129291	HRE	kidney:	n/a
30	chr4:166129241-166129291	NH-A	brain:	n/a
31	chr4:166129241-166129291	HCPEpiC	choroid plexus:	n/a
32	chr4:166129241-166129291	SAEC	small airway:	n/a
33	chr4:166129241-166129291	RPTEC	kidney:	n/a
34	chr4:166129241-166129291	GM19239	blood:	n/a
35	chr4:166129241-166129291	AG04450	lung:	fetal
36	chr4:166129241-166129291	AoSMC	blood vessel:	n/a
37	chr4:166129241-166129291	HCF	heart:	n/a
38	chr4:166129241-166129291	HepG2	liver:	n/a
39	chr4:166129241-166129291	Jurkat	blood:	n/a
40	chr4:166129241-166129291	SKMC	muscle:	n/a
41	chr4:166129241-166129291	PFSK-1	brain:	n/a
42	chr4:166129241-166129291	SK-N-SH_RA	brain:	n/a
43	chr4:166129241-166129291	GM12878	blood:	n/a
44	chr4:166129241-166129291	PrEC	prostate:	n/a
45	chr4:166129241-166129291	MCF10A-Er-Src	breast:	n/a
46	chr4:166129241-166129291	Hepatocyte	liver:	n/a
47	chr4:166129241-166129291	HCT-116	colon:	n/a
48	chr4:166129241-166129291	IMR90	lung:	fetal
49	chr4:166129241-166129291	AG09319	gingival:	n/a
50	chr4:166129241-166129291	HIPEpiC	eye:	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
KLHL2	CpG island
ENSG00000052802	Chromatin interaction
ENSG00000109466	Chromatin interaction
ENSG00000170088	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

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

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

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