Variant report

Variant	rs73151803
Chromosome Location	chr4:56263543-56263544
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr4:56260947-56266145	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr4:56263187-56264750	GM12878	blood:	n/a	n/a
3	YY1	chr4:56263214-56263561	GM12892	blood:	n/a	n/a
4	MAX	chr4:56261226-56263609	NB4	blood:	n/a	chr4:56261670-56261680
5	POLR2A	chr4:56261529-56263721	Hela-S3	cervix:	n/a	n/a
6	TEAD4	chr4:56262748-56263764	K562	blood:	n/a	n/a
7	STAT3	chr4:56263026-56265466	MCF10A-Er-Src	breast:	n/a	chr4:56264390-56264401 chr4:56263633-56263641 chr4:56264742-56264753
8	STAT3	chr4:56262931-56263589	Hela-S3	cervix:	n/a	n/a
9	WRNIP1	chr4:56262672-56263705	GM12878	blood:	n/a	n/a
10	MAFK	chr4:56262833-56263559	Hela-S3	cervix:	n/a	n/a
11	SPI1	chr4:56263443-56263959	HL-60	blood:	n/a	n/a
12	POLR2A	chr4:56261304-56265017	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr4:56261116-56266115	IMR90	lung:	n/a	n/a
14	MXI1	chr4:56261402-56265198	IMR90	lung:	n/a	n/a
15	TCF7L2	chr4:56261587-56263556	Hela-S3	cervix:	n/a	chr4:56262629-56262636
16	POLR2A	chr4:56261493-56263569	K562	blood:	n/a	n/a
17	POLR2A	chr4:56261344-56263655	HUVEC	blood vessel:	n/a	n/a
18	UBTF	chr4:56261495-56263561	K562	blood:	n/a	n/a
19	SMC3	chr4:56263294-56263705	Hela-S3	cervix:	n/a	n/a
20	TBL1XR1	chr4:56262871-56263648	K562	blood:	n/a	n/a
21	HCFC1	chr4:56261151-56263775	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr4:56261470-56264938	GM12878	blood:	n/a	n/a
23	POLR2A	chr4:56263114-56263755	U87	brain:	n/a	n/a
24	CHD1	chr4:56261060-56266047	IMR90	lung:	n/a	n/a
25	UBTF	chr4:56263431-56264220	K562	blood:	n/a	n/a
26	POLR2A	chr4:56261490-56263648	K562	blood:	n/a	n/a
27	YY1	chr4:56263172-56263549	SK-N-SH_RA	brain:	n/a	n/a
28	POLR2A	chr4:56261366-56263810	PBDE	blood:	n/a	n/a
29	POLR2A	chr4:56261553-56263804	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr4:56261443-56265387	MCF10A-Er-Src	breast:	n/a	n/a
31	MXI1	chr4:56262747-56263603	Hela-S3	cervix:	n/a	n/a
32	YY1	chr4:56263208-56263588	SK-N-SH_RA	brain:	n/a	n/a
33	ZNF263	chr4:56261688-56264788	HEK293-T-REx	kidney:	n/a	chr4:56261984-56261993
34	POLR2A	chr4:56261347-56264853	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr4:56262514-56263600	GM12878	blood:	n/a	n/a
36	POLR2A	chr4:56262670-56263935	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:56261651..56266514-chr4:56267808..56271520,10	MCF-7	breast:
2	chr4:56262170..56264152-chr4:56264363..56265916,3	K562	blood:
3	chr4:56222050..56228109-chr4:56258616..56264786,10	MCF-7	breast:
4	chr4:56211148..56230966-chr4:56256626..56269458,54	MCF-7	breast:
5	chr4:56245537..56248832-chr4:56260791..56264132,6	MCF-7	breast:
6	chr4:56252554..56257772-chr4:56259709..56263846,8	MCF-7	breast:
7	chr4:56211096..56216124-chr4:56256262..56265067,20	K562	blood:
8	chr4:56211242..56218739-chr4:56258356..56267013,28	MCF-7	breast:
9	chr4:56211281..56215987-chr4:56257992..56268538,18	K562	blood:
10	chr4:56260988..56264413-chr4:56410743..56414640,3	K562	blood:
11	chr4:56216631..56219343-chr4:56262936..56265336,2	K562	blood:
12	chr4:56240281..56248484-chr4:56258541..56264383,10	MCF-7	breast:
13	chr4:56245158..56247160-chr4:56262133..56263862,2	K562	blood:

No data

Variant related genes	Relation type
SRD5A3-AS1	TF binding region
TMEM165	TF binding region
ENSG00000251111	Chromatin interaction
ENSG00000273257	Chromatin interaction
ENSG00000134852	Chromatin interaction
ENSG00000249700	Chromatin interaction
ENSG00000128039	Chromatin interaction
ENSG00000134851	Chromatin interaction
ENSG00000272969	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73151816	0.84[AFR][1000 genomes]
rs73151818	0.84[AFR][1000 genomes]
rs7655037	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv999477	chr4:56219035-56397180	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv537101	chr4:56219035-56397180	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1011722	chr4:56261349-56325600	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv3440757	chr4:56261420-56263968	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr4:56261200-56264800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr4:56261200-56265200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:56261400-56263600	Active TSS	Brain Substantia Nigra	brain
4	chr4:56261400-56263800	Active TSS	Fetal Muscle Trunk	muscle
5	chr4:56261400-56264000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:56261400-56264000	Active TSS	Left Ventricle	heart
7	chr4:56261400-56264600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:56261400-56264600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:56261400-56264800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:56261400-56264800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:56261400-56264800	Active TSS	Fetal Kidney	kidney
12	chr4:56261400-56264800	Active TSS	Ovary	ovary
13	chr4:56261400-56264800	Active TSS	Right Ventricle	heart
14	chr4:56261400-56265000	Active TSS	H1 Cell Line	embryonic stem cell
15	chr4:56261400-56265200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:56261400-56265200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:56261400-56265200	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr4:56261400-56265400	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr4:56261400-56265400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr4:56261400-56265400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:56261400-56265400	Active TSS	Aorta	Aorta
22	chr4:56261400-56265400	Active TSS	Lung	lung
23	chr4:56261400-56265400	Active TSS	Psoas Muscle	Psoas
24	chr4:56261400-56265600	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr4:56261400-56265600	Active TSS	HSMMtube	muscle
26	chr4:56261400-56266000	Active TSS	Right Atrium	heart
27	chr4:56261600-56263600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:56261600-56263600	Active TSS	Brain Hippocampus Middle	brain
29	chr4:56261600-56263800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:56261600-56264000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:56261600-56264000	Active TSS	Esophagus	oesophagus
32	chr4:56261600-56264200	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr4:56261600-56264200	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr4:56261600-56264200	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr4:56261600-56264200	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr4:56261600-56264200	Active TSS	A549	lung
37	chr4:56261600-56264200	Active TSS	NH-A	brain
38	chr4:56261600-56264400	Active TSS	Muscle Satellite Cultured Cells	--
39	chr4:56261600-56264600	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr4:56261600-56264600	Active TSS	Brain Anterior Caudate	brain
41	chr4:56261600-56264600	Active TSS	Gastric	stomach
42	chr4:56261600-56264600	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr4:56261600-56264600	Active TSS	Hela-S3	cervix
44	chr4:56261600-56264800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:56261600-56265200	Active TSS	NHDF-Ad	bronchial
46	chr4:56261600-56265200	Active TSS	NHLF	lung
47	chr4:56261600-56265400	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr4:56261600-56265400	Active TSS	Pancreas	Pancrea
49	chr4:56261600-56265400	Active TSS	GM12878-XiMat	blood
50	chr4:56261600-56266000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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