Variant report

Variant	rs73833910
Chromosome Location	chr4:95373847-95373848
allele	A/G
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	MYC	chr4:95372630-95374545	K562	blood:	n/a	chr4:95373252-95373262
2	TAF1	chr4:95372667-95374121	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr4:95372838-95374105	GM18526	blood:	n/a	n/a
4	SRF	chr4:95373803-95374113	GM12878	blood:	n/a	chr4:95373985-95373999 chr4:95373989-95374000 chr4:95373984-95374002 chr4:95373988-95374002 chr4:95373985-95374003 chr4:95373989-95373998 chr4:95373987-95374000 chr4:95373982-95373999 chr4:95373986-95374001 chr4:95373988-95373999 chr4:95373984-95373998 chr4:95373987-95374002
5	MAZ	chr4:95372151-95374300	IMR90	lung:	n/a	chr4:95373252-95373262
6	POLR2A	chr4:95373667-95374132	A549	lung:	n/a	n/a
7	POLR2A	chr4:95373797-95374025	A549	lung:	n/a	n/a
8	MAZ	chr4:95372465-95374098	GM12878	blood:	n/a	chr4:95373252-95373262
9	MXI1	chr4:95373520-95374076	H1-hESC	embryonic stem cell:	n/a	n/a
10	MXI1	chr4:95372706-95374411	Hela-S3	cervix:	n/a	n/a
11	RELA	chr4:95372754-95374191	GM19099	blood:	n/a	n/a
12	HEY1	chr4:95373692-95374050	K562	blood:	n/a	n/a
13	RELA	chr4:95372588-95373916	GM18951	blood:	n/a	n/a
14	POLR2A	chr4:95372670-95374574	GM12878	blood:	n/a	n/a
15	TCF7L2	chr4:95373769-95374475	Hela-S3	cervix:	n/a	n/a
16	CCNT2	chr4:95372523-95374036	K562	blood:	n/a	chr4:95373020-95373029 chr4:95372948-95372957
17	ELK1	chr4:95373845-95374170	K562	blood:	n/a	n/a
18	POLR2A	chr4:95372105-95377374	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr4:95372695-95374173	K562	blood:	n/a	n/a
20	POLR2A	chr4:95373666-95374112	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr4:95372587-95375216	HUVEC	blood vessel:	n/a	n/a
22	HA-E2F1	chr4:95372716-95374067	Hela-S3	cervix:	n/a	chr4:95373600-95373617 chr4:95373298-95373313 chr4:95373603-95373610 chr4:95372928-95372938
23	SRF	chr4:95373810-95374147	HepG2	liver:	n/a	chr4:95373985-95373999 chr4:95373989-95374000 chr4:95373984-95374002 chr4:95373988-95374002 chr4:95373985-95374003 chr4:95373989-95373998 chr4:95373987-95374000 chr4:95373982-95373999 chr4:95373986-95374001 chr4:95373988-95373999 chr4:95373984-95373998 chr4:95373987-95374002
24	SRF	chr4:95373630-95374285	ECC-1	luminal epithelium:	n/a	chr4:95373985-95373999 chr4:95373989-95374000 chr4:95373984-95374002 chr4:95373988-95374002 chr4:95373985-95374003 chr4:95373989-95373998 chr4:95373987-95374000 chr4:95373982-95373999 chr4:95373986-95374001 chr4:95373988-95373999 chr4:95373984-95373998 chr4:95373987-95374002
25	POLR2A	chr4:95373745-95374164	K562	blood:	n/a	n/a
26	ZC3H11A	chr4:95373780-95374054	K562	blood:	n/a	n/a
27	FOS	chr4:95373792-95374096	MCF10A-Er-Src	breast:	n/a	n/a
28	ZNF143	chr4:95373811-95374107	Hela-S3	cervix:	n/a	chr4:95373874-95373884
29	MYC	chr4:95373718-95374057	MCF10A-Er-Src	breast:	n/a	n/a
30	SRF	chr4:95373727-95374204	H1-hESC	embryonic stem cell:	n/a	chr4:95373985-95373999 chr4:95373989-95374000 chr4:95373984-95374002 chr4:95373988-95374002 chr4:95373985-95374003 chr4:95373989-95373998 chr4:95373987-95374000 chr4:95373982-95373999 chr4:95373986-95374001 chr4:95373988-95373999 chr4:95373984-95373998 chr4:95373987-95374002
31	MAZ	chr4:95372651-95374067	Hela-S3	cervix:	n/a	chr4:95373252-95373262
32	TAF1	chr4:95373624-95374122	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr4:95373684-95374101	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr4:95372695-95374147	H1-hESC	embryonic stem cell:	n/a	n/a
35	SRF	chr4:95373685-95374249	H1-hESC	embryonic stem cell:	n/a	chr4:95373985-95373999 chr4:95373989-95374000 chr4:95373984-95374002 chr4:95373988-95374002 chr4:95373985-95374003 chr4:95373989-95373998 chr4:95373987-95374000 chr4:95373982-95373999 chr4:95373986-95374001 chr4:95373988-95373999 chr4:95373984-95373998 chr4:95373987-95374002
36	WRNIP1	chr4:95373644-95374845	GM12878	blood:	n/a	n/a
37	MXI1	chr4:95372732-95374768	HepG2	liver:	n/a	n/a
38	CTCF	chr4:95373760-95373910	AG04449	skin:	n/a	n/a
39	TBP	chr4:95372595-95374304	HepG2	liver:	n/a	n/a
40	TAF1	chr4:95373671-95373942	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr4:95373677-95374057	MCF-7	breast:	n/a	n/a
42	POLR2A	chr4:95372147-95375051	HepG2	liver:	n/a	n/a
43	TCF7L2	chr4:95373841-95374504	HepG2	liver:	n/a	n/a
44	GATA3	chr4:95373681-95374102	T-47D	breast:	n/a	n/a
45	RCOR1	chr4:95372638-95374225	GM12878	blood:	n/a	n/a
46	POLR2A	chr4:95373697-95375333	HepG2	liver:	n/a	n/a
47	ZNF143	chr4:95372736-95374040	GM12878	blood:	n/a	chr4:95373874-95373884 chr4:95373489-95373507
48	MAZ	chr4:95372431-95374109	K562	blood:	n/a	chr4:95373252-95373262
49	FOS	chr4:95373819-95373993	MCF10A-Er-Src	breast:	n/a	n/a
50	SRF	chr4:95373784-95374205	HepG2	liver:	n/a	chr4:95373985-95373999 chr4:95373989-95374000 chr4:95373984-95374002 chr4:95373988-95374002 chr4:95373985-95374003 chr4:95373989-95373998 chr4:95373987-95374000 chr4:95373982-95373999 chr4:95373986-95374001 chr4:95373988-95373999 chr4:95373984-95373998 chr4:95373987-95374002

No.	Distal block	Cell Line	Cell type
1	chr13:115079625..115080290-chr4:95373029..95373889,2	Hela-S3	cervix:
2	chr4:95371672..95374851-chr4:95376259..95380143,8	MCF-7	breast:
3	chr4:95373418..95376357-chr4:95500477..95502998,3	K562	blood:
4	chr4:95372926..95375393-chr4:95409110..95411441,2	MCF-7	breast:
5	chr2:10183513..10184255-chr4:95373046..95373903,2	Hela-S3	cervix:
6	chr4:95262528..95264165-chr4:95371036..95373901,2	K562	blood:
7	chr3:50378132..50378845-chr4:95373353..95374342,2	Hela-S3	cervix:
8	chr4:95373570..95375959-chr4:95453474..95457865,4	K562	blood:
9	chr1:146556130..146556822-chr4:95373100..95374050,2	Hela-S3	cervix:
10	chr4:95373373..95374140-chr5:177631405..177632336,2	Hela-S3	cervix:
11	chr4:95373838..95374434-chr4:95410066..95410592,2	Hela-S3	cervix:
12	chr4:95373234..95374778-chr4:95399640..95401902,2	K562	blood:
13	chr4:95373030..95374997-chr4:99848875..99851317,2	K562	blood:

Variant related genes	Relation type
PDLIM5	TF binding region
ENSG00000203436	TF binding region
ENSG00000235058	Chromatin interaction
ENSG00000198824	Chromatin interaction
ENSG00000151247	Chromatin interaction
ENSG00000163106	Chromatin interaction
ENSG00000263923	Chromatin interaction
ENSG00000163110	Chromatin interaction
ENSG00000172059	Chromatin interaction
ENSG00000197451	Chromatin interaction
ENSG00000238449	Chromatin interaction
ENSG00000068028	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1082514	1.00[EUR][1000 genomes]
rs73833915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73833924	1.00[EUR][1000 genomes]
rs774983	1.00[EUR][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	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr4:95372000-95374600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:95372000-95374600	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr4:95372000-95375600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:95372000-95375600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr4:95372000-95376400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:95372000-95376600	Active TSS	Stomach Smooth Muscle	stomach
7	chr4:95372000-95376600	Active TSS	HSMMtube	muscle
8	chr4:95372000-95376800	Active TSS	A549	lung
9	chr4:95372200-95374000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:95372200-95374000	Active TSS	Brain Hippocampus Middle	brain
11	chr4:95372200-95374200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:95372200-95374200	Active TSS	Brain Substantia Nigra	brain
13	chr4:95372200-95374400	Active TSS	H1 Cell Line	embryonic stem cell
14	chr4:95372200-95374400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr4:95372200-95374400	Active TSS	NHDF-Ad	bronchial
16	chr4:95372200-95374600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr4:95372200-95374600	Active TSS	Pancreas	Pancrea
18	chr4:95372200-95374800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr4:95372200-95376000	Active TSS	Colonic Mucosa	Colon
20	chr4:95372200-95376200	Active TSS	Psoas Muscle	Psoas
21	chr4:95372200-95376600	Active TSS	NHLF	lung
22	chr4:95372200-95376800	Active TSS	Ovary	ovary
23	chr4:95372200-95378200	Active TSS	Left Ventricle	heart
24	chr4:95372200-95378200	Active TSS	Right Atrium	heart
25	chr4:95372200-95378200	Active TSS	Right Ventricle	heart
26	chr4:95372400-95374000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr4:95372400-95374200	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr4:95372400-95374200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:95372400-95374400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr4:95372400-95374600	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr4:95372400-95374600	Active TSS	Placenta Amnion	Placenta Amnion
32	chr4:95372400-95375000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:95372400-95375400	Active TSS	NHEK	skin
34	chr4:95372400-95375800	Active TSS	Fetal Muscle Trunk	muscle
35	chr4:95372400-95375800	Active TSS	Placenta	Placenta
36	chr4:95372400-95376400	Active TSS	Fetal Muscle Leg	muscle
37	chr4:95372400-95376600	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr4:95372400-95377000	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr4:95372400-95377200	Active TSS	Aorta	Aorta
40	chr4:95372600-95374000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr4:95372600-95374000	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr4:95372600-95374000	Active TSS	Fetal Kidney	kidney
43	chr4:95372600-95374000	Active TSS	GM12878-XiMat	blood
44	chr4:95372600-95374200	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr4:95372600-95374200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:95372600-95374200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
47	chr4:95372600-95374200	Active TSS	Fetal Lung	lung
48	chr4:95372600-95374200	Active TSS	Lung	lung
49	chr4:95372600-95374200	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr4:95372600-95374200	Bivalent/Poised TSS	HepG2	liver

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