Variant report

Variant	rs507061
Chromosome Location	chr4:75024623-75024624
allele	C/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	TBP	chr4:75024247-75025231	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr4:75024594-75025215	IMR90	lung:	n/a	chr4:75025015-75025028 chr4:75024638-75024649
3	TBL1XR1	chr4:75024560-75024786	K562	blood:	n/a	n/a
4	CEBPB	chr4:75024190-75025213	Hela-S3	cervix:	n/a	chr4:75025015-75025028 chr4:75024638-75024649
5	POLR2A	chr4:75022991-75025136	PBDE	blood:	n/a	n/a
6	CHD1	chr4:75023604-75024854	GM12878	blood:	n/a	n/a
7	CHD1	chr4:75024100-75024627	H1-hESC	embryonic stem cell:	n/a	n/a
8	REST	chr4:75022921-75024668	H1-neurons	neurons:	n/a	chr4:75023676-75023696 chr4:75024016-75024026 chr4:75023771-75023784 chr4:75023682-75023696 chr4:75023645-75023658
9	HCFC1	chr4:75022751-75025210	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr4:75022866-75024826	GM12891	blood:	n/a	n/a
11	MXI1	chr4:75023234-75024779	GM12878	blood:	n/a	chr4:75024300-75024309
12	POLR2A	chr4:75022682-75025406	HUVEC	blood vessel:	n/a	n/a
13	MAX	chr4:75023339-75024758	Hela-S3	cervix:	n/a	chr4:75024298-75024309 chr4:75024298-75024308 chr4:75024299-75024309 chr4:75024297-75024310 chr4:75024299-75024306 chr4:75024295-75024310 chr4:75024297-75024307 chr4:75024300-75024309 chr4:75024297-75024310 chr4:75024297-75024312 chr4:75024299-75024308 chr4:75024298-75024309 chr4:75024298-75024307 chr4:75024298-75024309
14	RCOR1	chr4:75023307-75024889	K562	blood:	n/a	n/a
15	BRCA1	chr4:75023014-75025411	Hela-S3	cervix:	n/a	n/a
16	MAX	chr4:75023161-75025049	Hela-S3	cervix:	n/a	chr4:75024298-75024309 chr4:75024298-75024308 chr4:75024299-75024309 chr4:75024297-75024310 chr4:75024299-75024306 chr4:75024295-75024310 chr4:75024297-75024307 chr4:75024300-75024309 chr4:75024297-75024310 chr4:75024297-75024312 chr4:75024299-75024308 chr4:75024298-75024309 chr4:75024298-75024307 chr4:75024298-75024309
17	MYC	chr4:75022991-75024634	NB4	blood:	n/a	chr4:75024298-75024309 chr4:75024298-75024308 chr4:75024299-75024309 chr4:75024297-75024310 chr4:75024299-75024306 chr4:75024295-75024310 chr4:75024297-75024307 chr4:75024300-75024309 chr4:75024297-75024310 chr4:75024297-75024312 chr4:75024299-75024308 chr4:75024298-75024309 chr4:75024298-75024307 chr4:75024298-75024309
18	MXI1	chr4:75022950-75024809	IMR90	lung:	n/a	chr4:75024300-75024309
19	MYC	chr4:75022815-75024980	K562	blood:	n/a	chr4:75024298-75024309 chr4:75024298-75024308 chr4:75024299-75024309 chr4:75024297-75024310 chr4:75024299-75024306 chr4:75024295-75024310 chr4:75024297-75024307 chr4:75024300-75024309 chr4:75024297-75024310 chr4:75024297-75024312 chr4:75024299-75024308 chr4:75024298-75024309 chr4:75024298-75024307 chr4:75024298-75024309
20	POLR2A	chr4:75022387-75025140	MCF10A-Er-Src	breast:	n/a	n/a
21	EP300	chr4:75024315-75024684	GM12878	blood:	n/a	n/a
22	MYC	chr4:75022849-75024737	K562	blood:	n/a	chr4:75024298-75024309 chr4:75024298-75024308 chr4:75024299-75024309 chr4:75024297-75024310 chr4:75024299-75024306 chr4:75024295-75024310 chr4:75024297-75024307 chr4:75024300-75024309 chr4:75024297-75024310 chr4:75024297-75024312 chr4:75024299-75024308 chr4:75024298-75024309 chr4:75024298-75024307 chr4:75024298-75024309
23	POLR2A	chr4:75022256-75036597	K562	blood:	n/a	n/a
24	MYC	chr4:75024187-75025141	MCF10A-Er-Src	breast:	n/a	chr4:75024298-75024309 chr4:75024298-75024308 chr4:75024299-75024309 chr4:75024297-75024310 chr4:75024299-75024306 chr4:75024295-75024310 chr4:75024297-75024307 chr4:75024300-75024309 chr4:75024297-75024310 chr4:75024297-75024312 chr4:75024299-75024308 chr4:75024298-75024309 chr4:75024298-75024307 chr4:75024298-75024309
25	POLR2A	chr4:75023466-75025153	GM12878	blood:	n/a	n/a
26	MXI1	chr4:75023419-75024695	Hela-S3	cervix:	n/a	chr4:75024300-75024309
27	POLR2A	chr4:75023353-75024631	GM18505	blood:	n/a	n/a
28	MAX	chr4:75023189-75024671	ECC-1	luminal epithelium:	n/a	chr4:75024298-75024309 chr4:75024298-75024308 chr4:75024299-75024309 chr4:75024297-75024310 chr4:75024299-75024306 chr4:75024295-75024310 chr4:75024297-75024307 chr4:75024300-75024309 chr4:75024297-75024310 chr4:75024297-75024312 chr4:75024299-75024308 chr4:75024298-75024309 chr4:75024298-75024307 chr4:75024298-75024309
29	POLR2A	chr4:75023063-75024707	Raji	blood:	n/a	n/a
30	POLR2A	chr4:75022788-75025384	Hela-S3	cervix:	n/a	n/a
31	IRF1	chr4:75022954-75024869	K562	blood:	n/a	chr4:75023642-75023656 chr4:75023773-75023787 chr4:75023394-75023403
32	IRF3	chr4:75024418-75024908	Hela-S3	cervix:	n/a	n/a
33	ZNF143	chr4:75023541-75024625	GM12878	blood:	n/a	chr4:75024010-75024020
34	USF2	chr4:75024196-75024675	GM12878	blood:	n/a	n/a
35	POLR2A	chr4:75024516-75024680	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:74964506..74967065-chr4:75022087..75025561,3	K562	blood:
2	chr4:74122515..74124717-chr4:75023066..75024638,2	K562	blood:
3	chr4:75023332..75025369-chr4:75145514..75147366,2	MCF-7	breast:
4	chr4:75022872..75025434-chr4:75174456..75176612,2	MCF-7	breast:
5	chr4:74920487..74923421-chr4:75023614..75026198,3	K562	blood:
6	chr4:75024505..75027399-chr4:75144223..75145811,2	K562	blood:
7	chr4:75024456..75026319-chr4:75184021..75186282,2	K562	blood:
8	chr4:75024221..75026156-chr4:75163622..75165985,2	K562	blood:
9	chr4:74964506..74968474-chr4:75022087..75025768,6	K562	blood:

Variant related genes	Relation type
ENSG00000269559	TF binding region
ENSG00000182585	Chromatin interaction
ENSG00000132466	Chromatin interaction
ENSG00000163738	Chromatin interaction
ENSG00000248848	Chromatin interaction
ENSG00000081041	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10518119	1.00[EUR][1000 genomes]
rs10938110	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11942036	1.00[EUR][1000 genomes]
rs11946885	1.00[EUR][1000 genomes]
rs11947475	1.00[EUR][1000 genomes]
rs1261917	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1440405	1.00[EUR][1000 genomes]
rs1440406	1.00[EUR][1000 genomes]
rs16850579	1.00[EUR][1000 genomes]
rs16850585	1.00[EUR][1000 genomes]
rs4694665	1.00[EUR][1000 genomes]
rs474734	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs479117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs522698	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs536780	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs552357	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55946357	1.00[EUR][1000 genomes]
rs56000473	1.00[EUR][1000 genomes]
rs56006412	1.00[EUR][1000 genomes]
rs56236141	1.00[EUR][1000 genomes]
rs56896590	1.00[EUR][1000 genomes]
rs569187	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs569206	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60336088	1.00[EUR][1000 genomes]
rs60633195	1.00[EUR][1000 genomes]
rs6833925	1.00[EUR][1000 genomes]
rs6841682	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6850735	1.00[EUR][1000 genomes]
rs73824406	1.00[EUR][1000 genomes]
rs73824413	1.00[EUR][1000 genomes]
rs73824415	1.00[EUR][1000 genomes]
rs73824419	1.00[EUR][1000 genomes]
rs73824429	1.00[EUR][1000 genomes]
rs73827550	1.00[EUR][1000 genomes]
rs73827558	1.00[EUR][1000 genomes]
rs73827561	1.00[EUR][1000 genomes]
rs73827562	1.00[EUR][1000 genomes]
rs7681620	1.00[EUR][1000 genomes]
rs7687073	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv594683	chr4:75013441-75106485	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1013260	chr4:75013441-75121643	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1002907	chr4:75013441-75131443	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1004706	chr4:75014770-75121643	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv594684	chr4:75015750-75106485	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv3346537	chr4:75022913-75025461	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75022600-75025000	Active TSS	K562	blood
2	chr4:75022800-75025200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr4:75022800-75025200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:75022800-75025400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:75023000-75024800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:75023000-75024800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:75023000-75024800	Active TSS	Colonic Mucosa	Colon
8	chr4:75023000-75025000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr4:75023000-75025000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:75023000-75025000	Active TSS	Fetal Muscle Trunk	muscle
11	chr4:75023000-75025000	Active TSS	Fetal Stomach	stomach
12	chr4:75023000-75025000	Active TSS	HepG2	liver
13	chr4:75023000-75025200	Active TSS	H1 Cell Line	embryonic stem cell
14	chr4:75023000-75025200	Active TSS	Thymus	Thymus
15	chr4:75023000-75025800	Active TSS	A549	lung
16	chr4:75023200-75024800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:75023200-75024800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:75023200-75024800	Active TSS	Left Ventricle	heart
19	chr4:75023200-75024800	Active TSS	Ovary	ovary
20	chr4:75023200-75024800	Active TSS	Pancreas	Pancrea
21	chr4:75023200-75025000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:75023200-75025000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:75023200-75025000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:75023200-75025200	Active TSS	Aorta	Aorta
25	chr4:75023200-75025200	Active TSS	Fetal Intestine Large	intestine
26	chr4:75023200-75025200	Active TSS	Fetal Intestine Small	intestine
27	chr4:75023200-75025400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:75023200-75025400	Active TSS	Psoas Muscle	Psoas
29	chr4:75023200-75025400	Active TSS	Right Ventricle	heart
30	chr4:75023400-75024800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:75023400-75024800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:75023400-75024800	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr4:75023400-75024800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:75023400-75024800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:75023400-75024800	Active TSS	Esophagus	oesophagus
36	chr4:75023400-75024800	Active TSS	Fetal Lung	lung
37	chr4:75023400-75024800	Active TSS	Lung	lung
38	chr4:75023400-75024800	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr4:75023400-75024800	Active TSS	HSMM	muscle
40	chr4:75023400-75024800	Active TSS	NHDF-Ad	bronchial
41	chr4:75023400-75025000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:75023400-75025000	Active TSS	Duodenum Mucosa	Duodenum
43	chr4:75023400-75025000	Active TSS	Fetal Muscle Leg	muscle
44	chr4:75023400-75025200	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr4:75023400-75025200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr4:75023400-75025200	Active TSS	Fetal Kidney	kidney
47	chr4:75023400-75025200	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr4:75023400-75025400	Active TSS	H9 Cell Line	embryonic stem cell
49	chr4:75023400-75025400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:75023400-75025400	Active TSS	HSMMtube	muscle

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