Variant report

Variant	rs7666055
Chromosome Location	chr4:88141713-88141714
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:353)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:353 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr4:88141503-88142035	GM12878	blood:	n/a	n/a
2	BACH1	chr4:88141460-88142122	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr4:88140819-88142086	GM12892	blood:	n/a	n/a
4	FOXP2	chr4:88141313-88141962	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr4:88141093-88142018	H1-neurons	neurons:	n/a	n/a
6	TBP	chr4:88141492-88141746	GM12878	blood:	n/a	n/a
7	HEY1	chr4:88140669-88142044	K562	blood:	n/a	n/a
8	POLR2A	chr4:88140258-88142195	K562	blood:	n/a	n/a
9	TAF1	chr4:88141158-88142113	ECC-1	luminal epithelium:	n/a	n/a
10	CTCF	chr4:88140729-88141969	GM12878	blood:	n/a	n/a
11	MXI1	chr4:88140740-88142072	HepG2	liver:	n/a	n/a
12	POLR2A	chr4:88141376-88142051	HepG2	liver:	n/a	n/a
13	EGR1	chr4:88141496-88142113	ECC-1	luminal epithelium:	n/a	chr4:88141743-88141757 chr4:88141767-88141781
14	EGR1	chr4:88141582-88142055	K562	blood:	n/a	chr4:88141743-88141757 chr4:88141767-88141781
15	MAZ	chr4:88140698-88142250	IMR90	lung:	n/a	n/a
16	PML	chr4:88141176-88141902	K562	blood:	n/a	n/a
17	RELA	chr4:88140643-88142093	GM15510	blood:	n/a	n/a
18	POLR2A	chr4:88140777-88142072	GM18951	blood:	n/a	n/a
19	TAF1	chr4:88141060-88141807	K562	blood:	n/a	n/a
20	CEBPB	chr4:88141358-88141801	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr4:88141096-88141916	HepG2	liver:	n/a	n/a
22	MYC	chr4:88140195-88142305	K562	blood:	n/a	n/a
23	POLR2A	chr4:88141332-88142033	A549	lung:	n/a	n/a
24	POLR2A	chr4:88140775-88141906	GM12891	blood:	n/a	n/a
25	RELA	chr4:88141261-88141992	GM18951	blood:	n/a	n/a
26	REST	chr4:88141149-88141923	HL-60	blood:	n/a	n/a
27	RCOR1	chr4:88140868-88142074	GM12878	blood:	n/a	n/a
28	MAX	chr4:88141208-88142449	Hela-S3	cervix:	n/a	n/a
29	RAD21	chr4:88140739-88141717	IMR90	lung:	n/a	n/a
30	GTF2B	chr4:88141225-88141811	K562	blood:	n/a	n/a
31	POLR2A	chr4:88141132-88141911	HL-60	blood:	n/a	n/a
32	TCF7L2	chr4:88140883-88141981	HCT-116	colon:	n/a	n/a
33	TCF12	chr4:88140954-88142138	ECC-1	luminal epithelium:	n/a	n/a
34	SIX5	chr4:88141559-88142055	GM12878	blood:	n/a	n/a
35	CEBPD	chr4:88141519-88141989	HepG2	liver:	n/a	n/a
36	ZBTB33	chr4:88141559-88141902	HepG2	liver:	n/a	n/a
37	POU2F2	chr4:88141255-88141848	GM12891	blood:	n/a	n/a
38	YY1	chr4:88141296-88142046	ECC-1	luminal epithelium:	n/a	n/a
39	YY1	chr4:88141355-88141979	GM12892	blood:	n/a	n/a
40	UBTF	chr4:88140671-88142154	K562	blood:	n/a	n/a
41	EGR1	chr4:88141581-88142077	MCF-7	breast:	n/a	chr4:88141743-88141757 chr4:88141767-88141781
42	SP1	chr4:88141368-88142031	GM12878	blood:	n/a	n/a
43	BHLHE40	chr4:88140584-88142060	GM12878	blood:	n/a	n/a
44	CHD1	chr4:88141210-88141735	GM12878	blood:	n/a	n/a
45	MAX	chr4:88140851-88142158	HepG2	liver:	n/a	n/a
46	TCF3	chr4:88141531-88141742	GM12878	blood:	n/a	n/a
47	MYC	chr4:88141277-88141731	MCF-7	breast:	n/a	n/a
48	SMARCB1	chr4:88140722-88142181	Hela-S3	cervix:	n/a	n/a
49	E2F6	chr4:88140697-88142419	K562	blood:	n/a	n/a
50	ZBTB7A	chr4:88141011-88142112	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:88125915..88129051-chr4:88140439..88142912,3	MCF-7	breast:
2	chr4:87925170..87928506-chr4:88140421..88143207,4	MCF-7	breast:
3	chr4:88141285..88142003-chr5:10249743..10250605,2	Hela-S3	cervix:
4	chr4:87969741..87972043-chr4:88141021..88142542,2	MCF-7	breast:
5	chr4:87855268..87857472-chr4:88140405..88143113,3	MCF-7	breast:
6	chr15:77362899..77363478-chr4:88141336..88142074,2	NB4	blood:
7	chr4:87854638..87857344-chr4:88139505..88141852,2	K562	blood:
8	chr4:88141262..88141766-chr5:139487198..139487921,2	Hela-S3	cervix:
9	chr4:88127634..88129911-chr4:88140164..88142825,2	MCF-7	breast:
10	chr4:88141430..88142170-chr5:115177042..115177634,2	HCT-116	colon:
11	chr4:88139395..88142439-chr4:88311139..88313328,4	K562	blood:
12	chr4:88086859..88089641-chr4:88141106..88143015,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL8-1	chr4:88140676-88142542	ENSG00000250163.1

No data

Variant related genes	Relation type
KLHL8	TF binding region
ENSG00000245146	Chromatin interaction
ENSG00000248196	Chromatin interaction
ENSG00000140391	Chromatin interaction
ENSG00000185129	Chromatin interaction
ENSG00000145782	Chromatin interaction
ENSG00000177879	Chromatin interaction
ENSG00000163633	Chromatin interaction
ENSG00000150753	Chromatin interaction
ENSG00000150756	Chromatin interaction
ENSG00000248180	Chromatin interaction
ENSG00000172493	Chromatin interaction
ENSG00000198189	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11931927	0.82[ASN][1000 genomes]
rs17012532	0.82[ASN][1000 genomes]
rs17012552	0.84[ASN][1000 genomes]
rs6531954	0.82[ASN][1000 genomes]
rs6531961	0.89[ASN][1000 genomes]
rs73839119	0.89[ASN][1000 genomes]
rs73839122	0.89[ASN][1000 genomes]
rs7679257	0.89[ASN][1000 genomes]
rs7680813	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1007020	chr4:88046263-88235018	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537169	chr4:88046263-88235018	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 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	chr4:88139800-88142400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr4:88140000-88142200	Active TSS	GM12878-XiMat	blood
3	chr4:88140000-88142400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:88140000-88142600	Active TSS	Brain Anterior Caudate	brain
5	chr4:88140000-88142600	Active TSS	Fetal Brain Female	brain
6	chr4:88140200-88142000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:88140200-88142400	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr4:88140200-88142400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:88140200-88142400	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr4:88140200-88142400	Active TSS	Muscle Satellite Cultured Cells	--
11	chr4:88140200-88142400	Active TSS	Aorta	Aorta
12	chr4:88140200-88142400	Active TSS	Brain Cingulate Gyrus	brain
13	chr4:88140200-88142400	Active TSS	Colonic Mucosa	Colon
14	chr4:88140200-88142400	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr4:88140200-88142400	Active TSS	Fetal Lung	lung
16	chr4:88140200-88142400	Active TSS	HSMM	muscle
17	chr4:88140200-88142400	Active TSS	NHDF-Ad	bronchial
18	chr4:88140200-88142400	Active TSS	NHLF	lung
19	chr4:88140200-88142600	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr4:88140200-88142600	Active TSS	Brain Angular Gyrus	brain
21	chr4:88140200-88142600	Active TSS	Brain Germinal Matrix	brain
22	chr4:88140200-88142600	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr4:88140200-88142600	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr4:88140200-88142800	Active TSS	A549	lung
25	chr4:88140400-88142000	Active TSS	NH-A	brain
26	chr4:88140400-88142200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr4:88140400-88142200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:88140400-88142200	Active TSS	Fetal Brain Male	brain
29	chr4:88140400-88142200	Active TSS	Ovary	ovary
30	chr4:88140400-88142200	Active TSS	Pancreas	Pancrea
31	chr4:88140400-88142200	Active TSS	Placenta Amnion	Placenta Amnion
32	chr4:88140400-88142400	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr4:88140400-88142400	Active TSS	H9 Cell Line	embryonic stem cell
34	chr4:88140400-88142400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:88140400-88142400	Active TSS	Left Ventricle	heart
36	chr4:88140400-88142400	Active TSS	Right Ventricle	heart
37	chr4:88140400-88142400	Active TSS	HSMMtube	muscle
38	chr4:88140600-88142000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:88140600-88142000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:88140600-88142000	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr4:88140600-88142000	Active TSS	Lung	lung
42	chr4:88140600-88142000	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr4:88140600-88142000	Active TSS	HMEC	breast
44	chr4:88140600-88142200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:88140600-88142200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:88140600-88142200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr4:88140600-88142200	Active TSS	Small Intestine	intestine
48	chr4:88140600-88142200	Active TSS	Stomach Mucosa	stomach
49	chr4:88140600-88142400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:88140600-88142400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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