Variant report

Variant	rs72700531
Chromosome Location	chr9:14346343-14346344
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	POLR2A	chr9:14346137-14347762	H1-neurons	neurons:	n/a	n/a
2	BACH1	chr9:14345139-14346635	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr9:14344009-14351112	NT2-D1	testis:	n/a	n/a
4	SIN3A	chr9:14345434-14350297	H1-hESC	embryonic stem cell:	n/a	chr9:14347438-14347447 chr9:14348586-14348595 chr9:14347099-14347108 chr9:14348579-14348592
5	POLR2A	chr9:14346095-14346604	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr9:14346216-14346460	H1-hESC	embryonic stem cell:	n/a	n/a
7	TAF1	chr9:14346089-14346691	H1-hESC	embryonic stem cell:	n/a	n/a
8	USF2	chr9:14346078-14346621	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr9:14345698-14346826	H1-hESC	embryonic stem cell:	n/a	chr9:14346142-14346153 chr9:14346145-14346152 chr9:14346143-14346152 chr9:14346142-14346153 chr9:14346375-14346384
10	POLR2A	chr9:14346150-14346529	H1-hESC	embryonic stem cell:	n/a	n/a
11	YY1	chr9:14345735-14346385	H1-hESC	embryonic stem cell:	n/a	chr9:14346231-14346253 chr9:14346234-14346242
12	USF1	chr9:14345963-14346544	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr9:14346254-14346603	H1-hESC	embryonic stem cell:	n/a	n/a
14	E2F6	chr9:14345336-14349202	H1-hESC	embryonic stem cell:	n/a	chr9:14348935-14348947 chr9:14347246-14347258
15	MAX	chr9:14345477-14346785	H1-hESC	embryonic stem cell:	n/a	chr9:14346142-14346153 chr9:14346145-14346152 chr9:14346143-14346152 chr9:14346142-14346153 chr9:14346375-14346384
16	CTBP2	chr9:14344929-14346599	H1-hESC	embryonic stem cell:	n/a	n/a
17	YY1	chr9:14345377-14346442	H1-hESC	embryonic stem cell:	n/a	chr9:14346231-14346253 chr9:14346234-14346242
18	USF1	chr9:14346002-14346556	H1-hESC	embryonic stem cell:	n/a	n/a
19	GTF2F1	chr9:14346340-14346556	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF1	chr9:14346323-14346546	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD1	chr9:14344897-14346945	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr9:14344417-14347484	H1-neurons	neurons:	n/a	n/a
23	TBP	chr9:14346152-14346550	H1-hESC	embryonic stem cell:	n/a	n/a
24	E2F6	chr9:14345861-14346779	H1-hESC	embryonic stem cell:	n/a	n/a
25	MYC	chr9:14346163-14347052	H1-hESC	embryonic stem cell:	n/a	chr9:14346375-14346384
26	POLR2A	chr9:14345945-14346667	H1-hESC	embryonic stem cell:	n/a	n/a
27	CREB1	chr9:14345924-14346720	H1-hESC	embryonic stem cell:	n/a	n/a
28	CREB1	chr9:14345982-14346724	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr9:14345797-14346791	H1-hESC	embryonic stem cell:	n/a	chr9:14346142-14346153 chr9:14346145-14346152 chr9:14346143-14346152 chr9:14346142-14346153 chr9:14346375-14346384
30	POLR2A	chr9:14344732-14347104	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14313044..14315034-chr9:14344732..14346813,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225472	TF binding region
ENSG00000147862	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs72700533	1.00[AMR][1000 genomes]
rs72700541	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv916811	chr9:14210978-14542068	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv831516	chr9:14280695-14437445	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv892599	chr9:14310504-14350469	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv523410	chr9:14344888-14348563	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv527980	chr9:14345605-14348563	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14341000-14346400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
2	chr9:14343800-14350800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr9:14343800-14351000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr9:14344000-14348600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr9:14344000-14349200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
6	chr9:14344200-14348200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr9:14344400-14346800	Weak transcription	Left Ventricle	heart
8	chr9:14344600-14346800	Weak transcription	Aorta	Aorta
9	chr9:14344600-14346800	Weak transcription	HUVEC	blood vessel
10	chr9:14344600-14347200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr9:14344600-14350800	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr9:14344800-14346600	Bivalent Enhancer	Fetal Heart	heart
13	chr9:14345000-14347000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:14345000-14347000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
15	chr9:14345000-14349000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr9:14345000-14349000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr9:14345200-14346600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
18	chr9:14345200-14346600	Weak transcription	Psoas Muscle	Psoas
19	chr9:14345200-14347200	Weak transcription	A549	lung
20	chr9:14345400-14346400	Bivalent Enhancer	Rectal Smooth Muscle	rectum
21	chr9:14345400-14347000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr9:14345400-14347800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
23	chr9:14345400-14350000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr9:14345600-14346400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:14345600-14346400	Bivalent Enhancer	Liver	Liver
26	chr9:14345600-14346400	Active TSS	Brain Cingulate Gyrus	brain
27	chr9:14345600-14346400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
28	chr9:14345600-14346600	Enhancers	Fetal Brain Male	brain
29	chr9:14345600-14346800	Active TSS	Adipose Nuclei	Adipose
30	chr9:14345600-14347600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr9:14345600-14347600	Bivalent Enhancer	Stomach Mucosa	stomach
32	chr9:14345600-14347800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:14345600-14347800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
34	chr9:14345600-14349000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
35	chr9:14345600-14351000	Active TSS	Right Atrium	heart
36	chr9:14345800-14346400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
37	chr9:14345800-14346400	Enhancers	Right Ventricle	heart
38	chr9:14345800-14346600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr9:14345800-14346600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr9:14345800-14346800	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr9:14345800-14347000	Enhancers	Lung	lung
42	chr9:14345800-14347200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
43	chr9:14345800-14347400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
44	chr9:14345800-14347600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
45	chr9:14345800-14347800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
46	chr9:14345800-14348000	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr9:14345800-14348200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr9:14345800-14349000	Bivalent Enhancer	Fetal Thymus	thymus
49	chr9:14345800-14350000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
50	chr9:14345800-14350200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach

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