Variant report

Variant	rs188525482
Chromosome Location	chr4:166129611-166129612
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:122)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr4:166127586-166129783	IMR90	lung:	n/a	n/a
2	GATA2	chr4:166128998-166129705	SH-SY5Y	brain:	n/a	chr4:166129685-166129696
3	USF1	chr4:166129395-166129706	SK-N-SH_RA	brain:	n/a	n/a
4	UBTF	chr4:166128206-166129612	K562	blood:	n/a	n/a
5	USF1	chr4:166129366-166129666	H1-hESC	embryonic stem cell:	n/a	n/a
6	RCOR1	chr4:166127429-166129772	K562	blood:	n/a	n/a
7	WRNIP1	chr4:166129253-166129629	GM12878	blood:	n/a	n/a
8	USF1	chr4:166129414-166129694	H1-hESC	embryonic stem cell:	n/a	n/a
9	SIN3A	chr4:166127790-166129627	H1-hESC	embryonic stem cell:	n/a	chr4:166129187-166129200 chr4:166128730-166128743 chr4:166129194-166129208 chr4:166129315-166129328
10	POLR2A	chr4:166128101-166129671	GM18505	blood:	n/a	n/a
11	POLR2A	chr4:166128077-166129835	H1-neurons	neurons:	n/a	n/a
12	MXI1	chr4:166127612-166130368	SK-N-SH	brain:	n/a	n/a
13	HA-E2F1	chr4:166128168-166129629	MCF-7	breast:	n/a	chr4:166128809-166128820
14	POLR2A	chr4:166127726-166129782	H1-neurons	neurons:	n/a	n/a
15	GATA3	chr4:166129398-166129838	SH-SY5Y	brain:	n/a	chr4:166129685-166129696
16	USF2	chr4:166129499-166129645	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr4:166127986-166129666	NB4	blood:	n/a	n/a
18	MXI1	chr4:166127890-166129958	IMR90	lung:	n/a	n/a
19	POLR2A	chr4:166129488-166129738	MCF10A-Er-Src	breast:	n/a	n/a
20	GATA3	chr4:166129428-166129714	T-47D	breast:	n/a	chr4:166129685-166129696

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:166129561-166129611	HCT-116	colon:	n/a
2	chr4:166129605-166129655	AG04450	lung:	fetal
3	chr4:166129561-166129611	NHDF-neo	bronchial:	n/a
4	chr4:166129561-166129611	NH-A	brain:	n/a
5	chr4:166129561-166129611	ECC-1	luminal epithelium:	n/a
6	chr4:166129605-166129655	PFSK-1	brain:	n/a
7	chr4:166129605-166129655	BE2_C	brain:	n/a
8	chr4:166129561-166129611	T-47D	breast:	n/a
9	chr4:166129561-166129611	A549	lung:	n/a
10	chr4:166129605-166129655	HIPEpiC	eye:	n/a
11	chr4:166129605-166129655	SK-N-SH_RA	brain:	n/a
12	chr4:166129605-166129655	BJ	skin:	n/a
13	chr4:166129605-166129655	IMR90	lung:	fetal
14	chr4:166129561-166129611	AG04450	lung:	fetal
15	chr4:166129561-166129611	PFSK-1	brain:	n/a
16	chr4:166129561-166129611	HUVEC	blood vessel:	n/a
17	chr4:166129605-166129655	AG10803	skin:	n/a
18	chr4:166129605-166129655	CMK	blood:	n/a
19	chr4:166129605-166129655	HepG2	liver:	n/a
20	chr4:166129561-166129611	MCF10A-Er-Src	breast:	n/a
21	chr4:166129561-166129611	HRCEpiC	kidney:	n/a
22	chr4:166129561-166129611	PrEC	prostate:	n/a
23	chr4:166129561-166129611	GM12891	blood:	n/a
24	chr4:166129561-166129611	AG09309	skin:	n/a
25	chr4:166129561-166129611	GM12878	blood:	n/a
26	chr4:166129561-166129611	HepG2	liver:	n/a
27	chr4:166129605-166129655	AoSMC	blood vessel:	n/a
28	chr4:166129605-166129655	HAEpiC	amniotic membrane:	n/a
29	chr4:166129605-166129655	NHDF-neo	bronchial:	n/a
30	chr4:166129561-166129611	LNCaP	prostate:	n/a
31	chr4:166129561-166129611	HCM	heart:	n/a
32	chr4:166129561-166129611	HEK293	kidney:	embryo
33	chr4:166129605-166129655	HEK293	kidney:	embryo
34	chr4:166129561-166129611	AG10803	skin:	n/a
35	chr4:166129605-166129655	Hela-S3	cervix:	n/a
36	chr4:166129605-166129655	HCT-116	colon:	n/a
37	chr4:166129605-166129655	HRE	kidney:	n/a
38	chr4:166129605-166129655	HL-60	blood:	n/a
39	chr4:166129605-166129655	Jurkat	blood:	n/a
40	chr4:166129561-166129611	H1-hESC	embryonic stem cell:	embryo
41	chr4:166129561-166129611	HRE	kidney:	n/a
42	chr4:166129605-166129655	K562	blood:	n/a
43	chr4:166129605-166129655	ECC-1	luminal epithelium:	n/a
44	chr4:166129605-166129655	AG04449	skin:	fetal
45	chr4:166129561-166129611	AG04449	skin:	fetal
46	chr4:166129561-166129611	NHBE	bronchial:	n/a
47	chr4:166129561-166129611	BJ	skin:	n/a
48	chr4:166129605-166129655	A549	lung:	n/a
49	chr4:166129605-166129655	MCF10A-Er-Src	breast:	n/a
50	chr4:166129605-166129655	RPTEC	kidney:	n/a

(count:7 , 50 per page) page: 1

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	chr4:166031817..166034229-chr4:166129496..166132218,3	K562	blood:
4	chr4:166127800..166130090-chr4:166130347..166132969,2	MCF-7	breast:
5	chr4:166127386..166130072-chr4:166247171..166250406,6	MCF-7	breast:
6	chr4:166032812..166034984-chr4:166128697..166130341,2	K562	blood:
7	chr4:166127276..166130366-chr4:166247405..166250443,3	K562	blood:

No data

Variant related genes	Relation type
KLHL2	TF binding region
KLHL2	CpG island
ENSG00000052802	Chromatin interaction
ENSG00000170088	Chromatin interaction
ENSG00000109466	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	chr4:166127600-166129800	Active TSS	Colonic Mucosa	Colon
2	chr4:166127800-166129800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr4:166127800-166129800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:166127800-166129800	Active TSS	Ovary	ovary
5	chr4:166127800-166130200	Active TSS	Psoas Muscle	Psoas
6	chr4:166127800-166130400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr4:166128000-166130000	Active TSS	Brain Hippocampus Middle	brain
8	chr4:166128000-166130000	Active TSS	A549	lung
9	chr4:166128000-166130200	Active TSS	Aorta	Aorta
10	chr4:166128000-166130200	Active TSS	Left Ventricle	heart
11	chr4:166128000-166130200	Active TSS	Right Ventricle	heart
12	chr4:166128000-166130200	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr4:166128000-166130600	Active TSS	Lung	lung
14	chr4:166128000-166131400	Active TSS	Esophagus	oesophagus
15	chr4:166128200-166129800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:166128200-166129800	Active TSS	Placenta Amnion	Placenta Amnion
17	chr4:166128200-166130000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:166128200-166130000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:166128200-166130000	Active TSS	Brain Cingulate Gyrus	brain
20	chr4:166128200-166130000	Active TSS	Rectal Smooth Muscle	rectum
21	chr4:166128200-166130200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:166128200-166130200	Active TSS	NHLF	lung
23	chr4:166128200-166130400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr4:166128200-166130400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr4:166128200-166130400	Active TSS	Brain Anterior Caudate	brain
26	chr4:166128200-166130400	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr4:166128200-166130600	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr4:166128200-166131000	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr4:166128400-166129800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:166128400-166129800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:166128400-166129800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:166128400-166129800	Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr4:166128400-166129800	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr4:166128400-166129800	Active TSS	GM12878-XiMat	blood
35	chr4:166128400-166129800	Active TSS	NHDF-Ad	bronchial
36	chr4:166128400-166129800	Active TSS	NHEK	skin
37	chr4:166128400-166130000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr4:166128400-166130000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr4:166128400-166130000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr4:166128400-166130000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:166128400-166130000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:166128400-166130000	Active TSS	Brain Angular Gyrus	brain
43	chr4:166128400-166130000	Active TSS	Brain Substantia Nigra	brain
44	chr4:166128400-166130000	Active TSS	HMEC	breast
45	chr4:166128400-166130200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:166128400-166130200	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr4:166128400-166130200	Active TSS	Fetal Brain Female	brain
48	chr4:166128400-166130600	Active TSS	Stomach Smooth Muscle	stomach
49	chr4:166128800-166129800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
50	chr4:166128800-166129800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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