Variant report

Variant	rs73956132
Chromosome Location	chr18:29078822-29078823
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	ZMIZ1	chr18:29077670-29078830	K562	blood:	n/a	n/a
2	POLR2A	chr18:29078084-29078838	GM12878	blood:	n/a	n/a
3	TBL1XR1	chr18:29078742-29079418	K562	blood:	n/a	n/a
4	STAT3	chr18:29078758-29079414	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr18:29077611-29079895	K562	blood:	n/a	n/a
6	IRF1	chr18:29078794-29079448	K562	blood:	n/a	chr18:29078962-29078976 chr18:29079038-29079050
7	IRF1	chr18:29078525-29078867	K562	blood:	n/a	n/a
8	POLR2A	chr18:29077192-29078914	H1-hESC	embryonic stem cell:	n/a	n/a
9	SIN3A	chr18:29077463-29079406	H1-hESC	embryonic stem cell:	n/a	chr18:29077678-29077689
10	ELF1	chr18:29078791-29079143	K562	blood:	n/a	n/a
11	POLR2A	chr18:29077469-29079507	Hela-S3	cervix:	n/a	n/a
12	MYC	chr18:29077498-29079533	K562	blood:	n/a	chr18:29078958-29078967
13	POLR2A	chr18:29077774-29079379	MCF10A-Er-Src	breast:	n/a	n/a
14	MAZ	chr18:29077569-29078960	GM12878	blood:	n/a	n/a
15	MYC	chr18:29078397-29078874	MCF10A-Er-Src	breast:	n/a	n/a
16	RUNX3	chr18:29077975-29078877	GM12878	blood:	n/a	n/a
17	POLR2A	chr18:29077957-29080769	GM12878	blood:	n/a	n/a
18	CHD1	chr18:29078064-29079124	H1-hESC	embryonic stem cell:	n/a	n/a
19	TBP	chr18:29077361-29079535	K562	blood:	n/a	n/a
20	MTA3	chr18:29078048-29078846	GM12878	blood:	n/a	n/a
21	POLR2A	chr18:29077944-29078842	GM12892	blood:	n/a	n/a
22	POLR2A	chr18:29077648-29078844	GM12892	blood:	n/a	n/a
23	EP300	chr18:29078583-29078876	GM12878	blood:	n/a	n/a
24	TBP	chr18:29077396-29078835	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAZ	chr18:29077513-29079633	K562	blood:	n/a	chr18:29078958-29078967

No.	Distal block	Cell Line	Cell type
1	chr18:29078512..29082072-chr18:29089360..29094851,6	K562	blood:
2	chr18:28932546..28935472-chr18:29078101..29080400,2	K562	blood:
3	chr18:29075380..29078244-chr18:29078711..29080640,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266521	TF binding region
ENSG00000266729	Chromatin interaction
ENSG00000266521	Chromatin interaction
ENSG00000046604	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73953900	1.00[AFR][1000 genomes]
rs73956131	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv916545	chr18:28898800-29166364	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833615	chr18:29008396-29192976	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29077200-29079400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr18:29077200-29079600	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr18:29077200-29079800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr18:29077200-29080200	Active TSS	H1 Cell Line	embryonic stem cell
5	chr18:29077200-29080200	Active TSS	Duodenum Mucosa	Duodenum
6	chr18:29077400-29079000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr18:29077400-29079000	Active TSS	Liver	Liver
8	chr18:29077400-29079200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr18:29077400-29079200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr18:29077400-29079200	Active TSS	Fetal Intestine Large	intestine
11	chr18:29077400-29079200	Active TSS	Hela-S3	cervix
12	chr18:29077400-29079200	Active TSS	NH-A	brain
13	chr18:29077400-29079400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr18:29077400-29079400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:29077400-29079400	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr18:29077400-29079400	Active TSS	Fetal Brain Female	brain
17	chr18:29077400-29079400	Active TSS	Left Ventricle	heart
18	chr18:29077400-29079400	Active TSS	Pancreas	Pancrea
19	chr18:29077400-29079400	Active TSS	Stomach Mucosa	stomach
20	chr18:29077400-29079600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr18:29077400-29079600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr18:29077400-29079600	Active TSS	Fetal Intestine Small	intestine
23	chr18:29077400-29079600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr18:29077400-29079600	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr18:29077400-29079600	Active TSS	Right Ventricle	heart
26	chr18:29077400-29079800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr18:29077400-29080200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr18:29077400-29080200	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr18:29077400-29080400	Active TSS	Rectal Smooth Muscle	rectum
30	chr18:29077400-29080600	Active TSS	GM12878-XiMat	blood
31	chr18:29077600-29079000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr18:29077600-29079000	Active TSS	Psoas Muscle	Psoas
33	chr18:29077600-29079200	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr18:29077600-29079200	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr18:29077600-29079200	Active TSS	Ovary	ovary
36	chr18:29077600-29079200	Bivalent/Poised TSS	Small Intestine	intestine
37	chr18:29077600-29079200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
38	chr18:29077600-29079400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr18:29077600-29079400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr18:29077600-29079400	Active TSS	A549	lung
41	chr18:29077600-29079400	Active TSS	K562	blood
42	chr18:29077600-29079600	Active TSS	Placenta Amnion	Placenta Amnion
43	chr18:29077600-29080200	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr18:29077600-29080200	Active TSS	Colonic Mucosa	Colon
45	chr18:29077800-29079200	Active TSS	Fetal Lung	lung
46	chr18:29077800-29079200	Active TSS	NHEK	skin
47	chr18:29077800-29079400	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr18:29077800-29079600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr18:29078000-29079400	Active TSS	HMEC	breast
50	chr18:29078200-29079000	Active TSS	Thymus	Thymus

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