Variant report

Variant	rs61098146
Chromosome Location	chr4:124571406-124571407
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr4:124570791-124571557	HepG2	liver:	n/a	chr4:124571050-124571065 chr4:124571048-124571063
2	MBD4	chr4:124570944-124571661	HepG2	liver:	n/a	n/a
3	MAX	chr4:124570855-124571526	HepG2	liver:	n/a	n/a
4	FOXA1	chr4:124570774-124571550	HepG2	liver:	n/a	chr4:124571027-124571042 chr4:124571283-124571295
5	MAFF	chr4:124570919-124571613	HepG2	liver:	n/a	n/a
6	POLR2A	chr4:124571336-124571560	HepG2	liver:	n/a	n/a
7	KAP1	chr4:124570568-124571686	HEK293	kidney:	n/a	n/a
8	EP300	chr4:124570737-124571450	HepG2	liver:	n/a	n/a
9	FOXA2	chr4:124570802-124571490	HepG2	liver:	n/a	chr4:124571283-124571295
10	SP1	chr4:124570768-124571609	A549	lung:	n/a	n/a
11	SMC3	chr4:124570831-124571569	HepG2	liver:	n/a	n/a
12	FOXA2	chr4:124570825-124571485	A549	lung:	n/a	chr4:124571283-124571295
13	MYBL2	chr4:124570703-124571584	HepG2	liver:	n/a	n/a
14	HEY1	chr4:124571191-124571674	HepG2	liver:	n/a	n/a
15	CEBPB	chr4:124570823-124571802	HepG2	liver:	n/a	n/a
16	JUND	chr4:124570885-124571685	HepG2	liver:	n/a	chr4:124571124-124571136
17	RAD21	chr4:124570832-124571567	HepG2	liver:	n/a	n/a
18	FOXA2	chr4:124570543-124571674	HepG2	liver:	n/a	chr4:124571283-124571295
19	CTCF	chr4:124571260-124571410	AoAF	blood vessel:	n/a	n/a
20	RFX5	chr4:124571289-124571484	GM12878	blood:	n/a	chr4:124571397-124571406 chr4:124571394-124571409 chr4:124571395-124571409
21	RFX5	chr4:124570840-124571630	HepG2	liver:	n/a	chr4:124571049-124571064 chr4:124571048-124571065 chr4:124571049-124571064 chr4:124571397-124571406 chr4:124571394-124571409 chr4:124571395-124571409
22	RAD21	chr4:124570871-124571509	IMR90	lung:	n/a	n/a
23	NFIC	chr4:124570642-124571614	HepG2	liver:	n/a	n/a
24	REST	chr4:124570647-124571673	H1-neurons	neurons:	n/a	n/a
25	FOXA1	chr4:124570722-124571532	HepG2	liver:	n/a	chr4:124571027-124571042 chr4:124571283-124571295
26	TCF12	chr4:124570689-124571676	A549	lung:	n/a	chr4:124571029-124571038
27	MAFK	chr4:124570957-124571468	IMR90	lung:	n/a	n/a
28	KAP1	chr4:124570420-124571645	U2OS	brain:	n/a	n/a
29	FOXA1	chr4:124570780-124571519	HepG2	liver:	n/a	chr4:124571027-124571042 chr4:124571283-124571295
30	TEAD4	chr4:124570624-124571616	HepG2	liver:	n/a	n/a
31	TBP	chr4:124570741-124571585	HepG2	liver:	n/a	n/a
32	RCOR1	chr4:124570775-124571581	HepG2	liver:	n/a	n/a
33	EP300	chr4:124570730-124571641	HepG2	liver:	n/a	n/a
34	MYBL2	chr4:124570855-124571619	HepG2	liver:	n/a	n/a
35	FOXA1	chr4:124570882-124571475	HepG2	liver:	n/a	chr4:124571027-124571042 chr4:124571283-124571295
36	CTCF	chr4:124571360-124571510	HCFaa	heart:	n/a	n/a
37	ARID3A	chr4:124570740-124571648	HepG2	liver:	n/a	n/a
38	POLR2A	chr4:124570185-124571713	HepG2	liver:	n/a	n/a
39	BHLHE40	chr4:124570879-124571458	HepG2	liver:	n/a	n/a
40	EP300	chr4:124570812-124571482	HepG2	liver:	n/a	n/a
41	SETDB1	chr4:124570831-124571657	U2OS	brain:	n/a	n/a
42	POLR2A	chr4:124570803-124571428	H1-neurons	neurons:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:124571385-124571435	Caco-2	colon:	n/a
2	chr4:124571385-124571435	HRPEpiC	eye:	n/a
3	chr4:124571385-124571435	SK-N-MC	brain:	n/a
4	chr4:124571385-124571435	AG04449	skin:	fetal
5	chr4:124571385-124571435	HRE	kidney:	n/a
6	chr4:124571385-124571435	T-47D	breast:	n/a
7	chr4:124571385-124571435	HCT-116	colon:	n/a
8	chr4:124571385-124571435	HCM	heart:	n/a
9	chr4:124571385-124571435	ECC-1	luminal epithelium:	n/a
10	chr4:124571385-124571435	SKMC	muscle:	n/a
11	chr4:124571385-124571435	NH-A	brain:	n/a
12	chr4:124571385-124571435	GM12891	blood:	n/a
13	chr4:124571385-124571435	HAEpiC	amniotic membrane:	n/a
14	chr4:124571385-124571435	GM12892	blood:	n/a
15	chr4:124571385-124571435	GM12878	blood:	n/a
16	chr4:124571385-124571435	SK-N-SH_RA	brain:	n/a
17	chr4:124571385-124571435	H1-hESC	embryonic stem cell:	embryo
18	chr4:124571385-124571435	K562	blood:	n/a
19	chr4:124571385-124571435	IMR90	lung:	fetal
20	chr4:124571385-124571435	HUVEC	blood vessel:	n/a
21	chr4:124571385-124571435	HepG2	liver:	n/a
22	chr4:124571385-124571435	CMK	blood:	n/a
23	chr4:124571385-124571435	AG09319	gingival:	n/a
24	chr4:124571385-124571435	AG10803	skin:	n/a
25	chr4:124571385-124571435	HNPCEpiC	eye:	n/a
26	chr4:124571385-124571435	Hepatocyte	liver:	n/a
27	chr4:124571385-124571435	RPTEC	kidney:	n/a
28	chr4:124571385-124571435	HL-60	blood:	n/a
29	chr4:124571385-124571435	HMEC	breast:	n/a
30	chr4:124571385-124571435	SK-N-SH	brain:	n/a
31	chr4:124571385-124571435	Jurkat	blood:	n/a
32	chr4:124571385-124571435	GM19239	blood:	n/a
33	chr4:124571385-124571435	NB4	blood:	n/a
34	chr4:124571385-124571435	SAEC	small airway:	n/a
35	chr4:124571385-124571435	HEK293	kidney:	embryo
36	chr4:124571385-124571435	GM06990	blood:	n/a
37	chr4:124571385-124571435	Hela-S3	cervix:	n/a
38	chr4:124571385-124571435	NHBE	bronchial:	n/a
39	chr4:124571385-124571435	PANC-1	pancreas:	n/a
40	chr4:124571385-124571435	NT2-D1	testis:	n/a
41	chr4:124571385-124571435	U87	brain:	n/a
42	chr4:124571385-124571435	AoSMC	blood vessel:	n/a
43	chr4:124571385-124571435	ovcar-3	ovarian:	n/a
44	chr4:124571385-124571435	A549	lung:	n/a
45	chr4:124571385-124571435	PrEC	prostate:	n/a
46	chr4:124571385-124571435	ProgFib	skin:	n/a
47	chr4:124571385-124571435	MCF10A-Er-Src	breast:	n/a
48	chr4:124571385-124571435	PFSK-1	brain:	n/a
49	chr4:124571385-124571435	AG04450	lung:	fetal
50	chr4:124571385-124571435	BE2_C	brain:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPRY1-2	chr4:124571147-124571487	NONHSAT098194
2	lnc-SPRY1-2	chr4:124571390-124571503	NONHSAT098195

No data

Variant related genes	Relation type
LINC01091	TF binding region
LINC01091	CpG island

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs57043815	1.00[EUR][1000 genomes]
rs59756110	1.00[EUR][1000 genomes]
rs59797108	1.00[AFR][1000 genomes]
rs59827664	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60141661	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv469710	chr4:124474286-124623722	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv482747	chr4:124474286-124623722	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830047	chr4:124504051-124699142	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv879873	chr4:124528452-124590869	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv879874	chr4:124550693-124607201	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124570000-124573200	Enhancers	Stomach Mucosa	stomach
2	chr4:124570000-124573600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr4:124570200-124571600	Enhancers	HSMM	muscle
4	chr4:124570200-124571600	Enhancers	NH-A	brain
5	chr4:124570200-124571800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:124570200-124571800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:124570200-124572800	Enhancers	Fetal Lung	lung
8	chr4:124570200-124573000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:124570400-124571600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:124570400-124571600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:124570400-124571600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:124570400-124571600	Enhancers	Placenta	Placenta
13	chr4:124570400-124571800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr4:124570400-124571800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:124570400-124571800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:124570400-124572400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:124570400-124572800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr4:124570400-124572800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:124570400-124573600	Enhancers	Adipose Nuclei	Adipose
20	chr4:124570600-124571600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr4:124570600-124571600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr4:124570600-124571600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr4:124570600-124571600	Flanking Active TSS	NHEK	skin
24	chr4:124570600-124571800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:124570600-124571800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr4:124570600-124571800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr4:124570600-124571800	Enhancers	Brain Hippocampus Middle	brain
28	chr4:124570600-124571800	Flanking Active TSS	NHDF-Ad	bronchial
29	chr4:124570600-124573200	Enhancers	HSMMtube	muscle
30	chr4:124570800-124571600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr4:124570800-124571600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:124570800-124571600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:124570800-124571600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:124570800-124571600	Enhancers	Brain Angular Gyrus	brain
35	chr4:124570800-124571600	Enhancers	Brain Substantia Nigra	brain
36	chr4:124570800-124571600	Enhancers	Fetal Brain Female	brain
37	chr4:124570800-124571600	Enhancers	Left Ventricle	heart
38	chr4:124570800-124571600	Enhancers	Ovary	ovary
39	chr4:124570800-124571600	Flanking Active TSS	NHLF	lung
40	chr4:124570800-124571800	Enhancers	Aorta	Aorta
41	chr4:124570800-124571800	Enhancers	Liver	Liver
42	chr4:124570800-124571800	Active TSS	Right Atrium	heart
43	chr4:124570800-124571800	Active TSS	HepG2	liver
44	chr4:124570800-124572200	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr4:124570800-124572200	Active TSS	Psoas Muscle	Psoas
46	chr4:124570800-124572600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:124571000-124571600	Flanking Active TSS	Fetal Kidney	kidney
48	chr4:124571000-124571600	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr4:124571000-124571800	Enhancers	Fetal Brain Male	brain
50	chr4:124571000-124571800	Flanking Active TSS	Fetal Intestine Small	intestine

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