Variant report

Variant	rs556585429
Chromosome Location	chr4:124693993-124693994
allele	G/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	RAD21	chr4:124693867-124694485	ECC-1	luminal epithelium:	n/a	chr4:124694165-124694184 chr4:124694169-124694178
2	RAD21	chr4:124693911-124694446	A549	lung:	n/a	chr4:124694165-124694184 chr4:124694169-124694178
3	CTCF	chr4:124693895-124694402	HepG2	liver:	n/a	chr4:124694166-124694187 chr4:124694165-124694181 chr4:124694164-124694182 chr4:124694169-124694177
4	RAD21	chr4:124693982-124694397	HepG2	liver:	n/a	chr4:124694165-124694184 chr4:124694169-124694178
5	CTCF	chr4:124693938-124694383	GM12878	blood:	n/a	chr4:124694166-124694187 chr4:124694165-124694181 chr4:124694164-124694182 chr4:124694169-124694177
6	CTCF	chr4:124693988-124694354	IMR90	lung:	n/a	chr4:124694166-124694187 chr4:124694165-124694181 chr4:124694164-124694182 chr4:124694169-124694177
7	CTCF	chr4:124693841-124694506	A549	lung:	n/a	chr4:124694166-124694187 chr4:124694165-124694181 chr4:124694164-124694182 chr4:124694169-124694177
8	ZNF143	chr4:124693918-124694350	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr4:124693923-124694291	A549	lung:	n/a	chr4:124694166-124694187 chr4:124694165-124694181 chr4:124694164-124694182 chr4:124694169-124694177
10	CTCF	chr4:124693916-124694387	HCT-116	colon:	n/a	chr4:124694166-124694187 chr4:124694165-124694181 chr4:124694164-124694182 chr4:124694169-124694177
11	CTCF	chr4:124693971-124694335	GM12878	blood:	n/a	chr4:124694166-124694187 chr4:124694165-124694181 chr4:124694164-124694182 chr4:124694169-124694177
12	RAD21	chr4:124693905-124694380	SK-N-SH_RA	brain:	n/a	chr4:124694165-124694184 chr4:124694169-124694178
13	CEBPB	chr4:124693988-124694350	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr4:124693987-124694260	T-47D	breast:	n/a	chr4:124694166-124694187 chr4:124694165-124694181 chr4:124694164-124694182 chr4:124694169-124694177
15	CTCF	chr4:124693975-124694371	K562	blood:	n/a	chr4:124694166-124694187 chr4:124694165-124694181 chr4:124694164-124694182 chr4:124694169-124694177
16	CTCF	chr4:124693991-124694319	GM19238	blood:	n/a	chr4:124694166-124694187 chr4:124694165-124694181 chr4:124694164-124694182 chr4:124694169-124694177
17	RAD21	chr4:124693968-124694307	SK-N-SH_RA	brain:	n/a	chr4:124694165-124694184 chr4:124694169-124694178
18	RAD21	chr4:124693917-124694448	ECC-1	luminal epithelium:	n/a	chr4:124694165-124694184 chr4:124694169-124694178
19	RAD21	chr4:124693992-124694298	GM12878	blood:	n/a	chr4:124694165-124694184 chr4:124694169-124694178
20	CTCF	chr4:124693893-124694468	MCF-7	breast:	n/a	chr4:124694166-124694187 chr4:124694165-124694181 chr4:124694164-124694182 chr4:124694169-124694177
21	FOXP2	chr4:124693980-124694311	SK-N-MC	brain:	n/a	n/a
22	USF2	chr4:124693926-124694278	GM12878	blood:	n/a	n/a
23	RAD21	chr4:124693877-124694395	MCF-7	breast:	n/a	chr4:124694165-124694184 chr4:124694169-124694178
24	RAD21	chr4:124693990-124694416	IMR90	lung:	n/a	chr4:124694165-124694184 chr4:124694169-124694178
25	SMC3	chr4:124693859-124694379	Hela-S3	cervix:	n/a	chr4:124694166-124694180
26	CTCF	chr4:124693897-124694381	MCF-7	breast:	n/a	chr4:124694166-124694187 chr4:124694165-124694181 chr4:124694164-124694182 chr4:124694169-124694177
27	CTCF	chr4:124693960-124694272	A549	lung:	n/a	chr4:124694166-124694187 chr4:124694165-124694181 chr4:124694164-124694182 chr4:124694169-124694177
28	RAD21	chr4:124693880-124694466	H1-hESC	embryonic stem cell:	n/a	chr4:124694165-124694184 chr4:124694169-124694178
29	RAD21	chr4:124693887-124694468	MCF-7	breast:	n/a	chr4:124694165-124694184 chr4:124694169-124694178
30	CTCF	chr4:124693987-124694313	GM12892	blood:	n/a	chr4:124694166-124694187 chr4:124694165-124694181 chr4:124694164-124694182 chr4:124694169-124694177
31	RAD21	chr4:124693973-124694383	A549	lung:	n/a	chr4:124694165-124694184 chr4:124694169-124694178
32	RAD21	chr4:124693853-124694500	HCT-116	colon:	n/a	chr4:124694165-124694184 chr4:124694169-124694178
33	RAD21	chr4:124693954-124694426	Hela-S3	cervix:	n/a	chr4:124694165-124694184 chr4:124694169-124694178
34	RAD21	chr4:124693927-124694342	HepG2	liver:	n/a	chr4:124694165-124694184 chr4:124694169-124694178
35	SMC3	chr4:124693956-124694381	GM12878	blood:	n/a	chr4:124694166-124694180
36	CREB1	chr4:124693925-124694290	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr4:124693821-124694557	SK-N-SH	brain:	n/a	chr4:124694165-124694184 chr4:124694169-124694178
38	RAD21	chr4:124693818-124694482	HepG2	liver:	n/a	chr4:124694165-124694184 chr4:124694169-124694178
39	SMC3	chr4:124693916-124694404	HepG2	liver:	n/a	chr4:124694166-124694180
40	CTCF	chr4:124693975-124694324	K562	blood:	n/a	chr4:124694166-124694187 chr4:124694165-124694181 chr4:124694164-124694182 chr4:124694169-124694177
41	RAD21	chr4:124693904-124694415	H1-hESC	embryonic stem cell:	n/a	chr4:124694165-124694184 chr4:124694169-124694178
42	RAD21	chr4:124693829-124694487	HCT-116	colon:	n/a	chr4:124694165-124694184 chr4:124694169-124694178
43	CTCF	chr4:124693920-124694070	A549	lung:	n/a	n/a
44	CTCF	chr4:124693886-124694362	K562	blood:	n/a	chr4:124694166-124694187 chr4:124694165-124694181 chr4:124694164-124694182 chr4:124694169-124694177
45	YY1	chr4:124693967-124694301	GM12878	blood:	n/a	chr4:124694041-124694051
46	TEAD4	chr4:124693936-124694398	H1-hESC	embryonic stem cell:	n/a	chr4:124693990-124693999
47	RAD21	chr4:124693878-124694369	H1-hESC	embryonic stem cell:	n/a	chr4:124694165-124694184 chr4:124694169-124694178
48	CTCF	chr4:124693857-124694507	HCT-116	colon:	n/a	chr4:124694166-124694187 chr4:124694165-124694181 chr4:124694164-124694182 chr4:124694169-124694177
49	SMC3	chr4:124693957-124694378	K562	blood:	n/a	chr4:124694166-124694180

No.	Distal block	Cell Line	Cell type
1	chr4:124693814..124694331-chr4:125183401..125183907,2	MCF-7	breast:
2	chr4:124693787..124694688-chr4:125032781..125033558,3	MCF-7	breast:
3	chr4:124693711..124694660-chr4:124911167..124912152,7	MCF-7	breast:
4	chr4:124693285..124694245-chr4:124911389..124911929,2	MCF-7	breast:
5	chr4:124688857..124690611-chr4:124692312..124695187,2	K562	blood:
6	chr4:124693744..124694615-chr4:125242649..125243563,2	MCF-7	breast:

Variant related genes	Relation type
LINC01091	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	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	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
3	nsv1001751	chr4:124693346-124733305	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124687000-124704600	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:124689600-124698200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:124689600-124698200	Weak transcription	Aorta	Aorta

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