Variant report

Variant	rs73149801
Chromosome Location	chr4:56263380-56263381
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	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	EP300	chr4:56263189-56263480	SK-N-SH_RA	brain:	n/a	n/a
5	MAX	chr4:56261226-56263609	NB4	blood:	n/a	chr4:56261670-56261680
6	POLR2A	chr4:56261529-56263721	Hela-S3	cervix:	n/a	n/a
7	TEAD4	chr4:56262748-56263764	K562	blood:	n/a	n/a
8	STAT3	chr4:56263026-56265466	MCF10A-Er-Src	breast:	n/a	chr4:56264390-56264401 chr4:56263633-56263641 chr4:56264742-56264753
9	STAT3	chr4:56262931-56263589	Hela-S3	cervix:	n/a	n/a
10	WRNIP1	chr4:56262672-56263705	GM12878	blood:	n/a	n/a
11	MAFK	chr4:56262833-56263559	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr4:56261480-56263519	GM18505	blood:	n/a	n/a
13	POLR2A	chr4:56261304-56265017	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr4:56263198-56263479	Hela-S3	cervix:	n/a	n/a
15	EP300	chr4:56263222-56263462	SK-N-SH_RA	brain:	n/a	n/a
16	POLR2A	chr4:56261116-56266115	IMR90	lung:	n/a	n/a
17	YY1	chr4:56263218-56263517	GM12878	blood:	n/a	n/a
18	SRF	chr4:56262622-56263412	HCT-116	colon:	n/a	chr4:56263016-56263030 chr4:56263018-56263031 chr4:56263019-56263033 chr4:56263018-56263031 chr4:56263020-56263029 chr4:56263019-56263030 chr4:56263017-56263032
19	MXI1	chr4:56261402-56265198	IMR90	lung:	n/a	n/a
20	POLR2A	chr4:56263196-56263502	Hela-S3	cervix:	n/a	n/a
21	TCF7L2	chr4:56261587-56263556	Hela-S3	cervix:	n/a	chr4:56262629-56262636
22	POLR2A	chr4:56261493-56263569	K562	blood:	n/a	n/a
23	MAX	chr4:56262870-56263499	K562	blood:	n/a	n/a
24	POLR2A	chr4:56261344-56263655	HUVEC	blood vessel:	n/a	n/a
25	UBTF	chr4:56261495-56263561	K562	blood:	n/a	n/a
26	SMC3	chr4:56263294-56263705	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr4:56263362-56263387	HepG2	liver:	n/a	n/a
28	TBL1XR1	chr4:56262871-56263648	K562	blood:	n/a	n/a
29	HCFC1	chr4:56261151-56263775	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr4:56261470-56264938	GM12878	blood:	n/a	n/a
31	POLR2A	chr4:56263114-56263755	U87	brain:	n/a	n/a
32	CHD1	chr4:56261060-56266047	IMR90	lung:	n/a	n/a
33	STAT3	chr4:56262971-56263464	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr4:56262963-56263462	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr4:56261490-56263648	K562	blood:	n/a	n/a
36	YY1	chr4:56263172-56263549	SK-N-SH_RA	brain:	n/a	n/a
37	POLR2A	chr4:56261366-56263810	PBDE	blood:	n/a	n/a
38	YY1	chr4:56263266-56263498	K562	blood:	n/a	n/a
39	POLR2A	chr4:56261553-56263804	H1-hESC	embryonic stem cell:	n/a	n/a
40	SIN3A	chr4:56261554-56263532	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr4:56261443-56265387	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr4:56263238-56263532	GM12878	blood:	n/a	n/a
43	MXI1	chr4:56262747-56263603	Hela-S3	cervix:	n/a	n/a
44	YY1	chr4:56263208-56263588	SK-N-SH_RA	brain:	n/a	n/a
45	ZNF263	chr4:56261688-56264788	HEK293-T-REx	kidney:	n/a	chr4:56261984-56261993
46	CHD1	chr4:56262004-56263392	GM12878	blood:	n/a	n/a
47	GABPA	chr4:56262501-56263474	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr4:56263373-56263423	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr4:56262946-56263534	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr4:56261347-56264853	Hela-S3	cervix:	n/a	n/a

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:

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

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs73147878	1.00[AMR][1000 genomes]
rs73149362	1.00[AMR][1000 genomes]
rs73149762	1.00[AMR][1000 genomes]
rs73149770	1.00[AMR][1000 genomes]
rs73149795	1.00[AMR][1000 genomes]
rs73149797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73151846	1.00[AMR][1000 genomes]
rs73151855	1.00[AMR][1000 genomes]
rs73151862	1.00[AMR][1000 genomes]
rs73151884	1.00[AMR][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	chr4:56261200-56263400	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr4:56261200-56263400	Active TSS	Osteobl	bone
3	chr4:56261200-56264800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr4:56261200-56265200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:56261400-56263400	Active TSS	HSMM	muscle
6	chr4:56261400-56263600	Active TSS	Brain Substantia Nigra	brain
7	chr4:56261400-56263800	Active TSS	Fetal Muscle Trunk	muscle
8	chr4:56261400-56264000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:56261400-56264000	Active TSS	Left Ventricle	heart
10	chr4:56261400-56264600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:56261400-56264600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:56261400-56264800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:56261400-56264800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:56261400-56264800	Active TSS	Fetal Kidney	kidney
15	chr4:56261400-56264800	Active TSS	Ovary	ovary
16	chr4:56261400-56264800	Active TSS	Right Ventricle	heart
17	chr4:56261400-56265000	Active TSS	H1 Cell Line	embryonic stem cell
18	chr4:56261400-56265200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:56261400-56265200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:56261400-56265200	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr4:56261400-56265400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr4:56261400-56265400	Active TSS	H9 Cell Line	embryonic stem cell
23	chr4:56261400-56265400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:56261400-56265400	Active TSS	Aorta	Aorta
25	chr4:56261400-56265400	Active TSS	Lung	lung
26	chr4:56261400-56265400	Active TSS	Psoas Muscle	Psoas
27	chr4:56261400-56265600	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr4:56261400-56265600	Active TSS	HSMMtube	muscle
29	chr4:56261400-56266000	Active TSS	Right Atrium	heart
30	chr4:56261600-56263400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:56261600-56263400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:56261600-56263400	Active TSS	Brain Angular Gyrus	brain
33	chr4:56261600-56263400	Active TSS	Brain Cingulate Gyrus	brain
34	chr4:56261600-56263400	Active TSS	Rectal Smooth Muscle	rectum
35	chr4:56261600-56263400	Active TSS	Spleen	Spleen
36	chr4:56261600-56263400	Active TSS	K562	blood
37	chr4:56261600-56263400	Active TSS	NHEK	skin
38	chr4:56261600-56263600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:56261600-56263600	Active TSS	Brain Hippocampus Middle	brain
40	chr4:56261600-56263800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:56261600-56264000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:56261600-56264000	Active TSS	Esophagus	oesophagus
43	chr4:56261600-56264200	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr4:56261600-56264200	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr4:56261600-56264200	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr4:56261600-56264200	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr4:56261600-56264200	Active TSS	A549	lung
48	chr4:56261600-56264200	Active TSS	NH-A	brain
49	chr4:56261600-56264400	Active TSS	Muscle Satellite Cultured Cells	--
50	chr4:56261600-56264600	Active TSS	iPS-15b Cell Line	embryonic stem cell

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