Variant report

Variant	rs72748370
Chromosome Location	chr9:94903094-94903095
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	MAX	chr9:94902586-94903110	HepG2	liver:	n/a	n/a
2	MAX	chr9:94902560-94903108	HCT-116	colon:	n/a	n/a
3	MAX	chr9:94902565-94903100	A549	lung:	n/a	n/a
4	MXI1	chr9:94902467-94903909	SK-N-SH	brain:	n/a	n/a
5	CTCF	chr9:94903040-94903190	GM12872	blood:	n/a	n/a
6	CTCF	chr9:94902444-94903129	HCT-116	colon:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
7	RAD21	chr9:94902503-94903189	HCT-116	colon:	n/a	chr9:94902741-94902755 chr9:94902740-94902759 chr9:94902741-94902750
8	MAX	chr9:94902450-94903109	HCT-116	colon:	n/a	n/a
9	MXI1	chr9:94902085-94904234	IMR90	lung:	n/a	n/a
10	CTCF	chr9:94903060-94903210	BE2_C	brain:	n/a	n/a
11	CTCF	chr9:94903080-94903230	HUVEC	blood vessel:	n/a	n/a
12	RAD21	chr9:94902303-94903113	SK-N-SH	brain:	n/a	chr9:94902741-94902755 chr9:94902740-94902759 chr9:94902741-94902750
13	E2F6	chr9:94902515-94903099	A549	lung:	n/a	chr9:94902748-94902759
14	CTCF	chr9:94903019-94903105	GM19238	blood:	n/a	n/a
15	CTCF	chr9:94903080-94903230	GM12866	blood:	n/a	n/a
16	RAD21	chr9:94902429-94903109	MCF-7	breast:	n/a	chr9:94902741-94902755 chr9:94902740-94902759 chr9:94902741-94902750
17	CTCF	chr9:94903060-94903210	AG10803	skin:	n/a	n/a
18	MAX	chr9:94902627-94903202	ECC-1	luminal epithelium:	n/a	n/a
19	TCF12	chr9:94902530-94903151	A549	lung:	n/a	n/a
20	MAX	chr9:94902485-94903094	MCF-7	breast:	n/a	n/a
21	RAD21	chr9:94902535-94903101	IMR90	lung:	n/a	chr9:94902741-94902755 chr9:94902740-94902759 chr9:94902741-94902750
22	SIN3A	chr9:94902559-94903727	H1-hESC	embryonic stem cell:	n/a	chr9:94902732-94902741
23	SMC3	chr9:94902439-94903811	SK-N-SH	brain:	n/a	chr9:94902741-94902755 chr9:94902745-94902755
24	CTCF	chr9:94902024-94903401	A549	lung:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
25	RAD21	chr9:94902470-94903168	HCT-116	colon:	n/a	chr9:94902741-94902755 chr9:94902740-94902759 chr9:94902741-94902750
26	CTCF	chr9:94902044-94903142	SK-N-SH	brain:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
27	CTCF	chr9:94902980-94903130	GM06990	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:94903088-94903138	NHBE	bronchial:	n/a
2	chr9:94903088-94903138	BE2_C	brain:	n/a
3	chr9:94903088-94903138	HRCEpiC	kidney:	n/a
4	chr9:94903088-94903138	H1-hESC	embryonic stem cell:	embryo
5	chr9:94903088-94903138	HRE	kidney:	n/a
6	chr9:94903088-94903138	PFSK-1	brain:	n/a
7	chr9:94903088-94903138	A549	lung:	n/a
8	chr9:94903088-94903138	ovcar-3	ovarian:	n/a
9	chr9:94903088-94903138	HRPEpiC	eye:	n/a
10	chr9:94903088-94903138	HCM	heart:	n/a
11	chr9:94903088-94903138	GM12878	blood:	n/a
12	chr9:94903088-94903138	T-47D	breast:	n/a
13	chr9:94903088-94903138	AG04450	lung:	fetal
14	chr9:94903088-94903138	HEK293	kidney:	embryo
15	chr9:94903088-94903138	HMEC	breast:	n/a
16	chr9:94903088-94903138	MCF10A-Er-Src	breast:	n/a
17	chr9:94903088-94903138	AG04449	skin:	fetal
18	chr9:94903088-94903138	HEEpiC	esophagus:	n/a
19	chr9:94903088-94903138	IMR90	lung:	fetal
20	chr9:94903088-94903138	K562	blood:	n/a
21	chr9:94903088-94903138	PANC-1	pancreas:	n/a
22	chr9:94903088-94903138	GM12891	blood:	n/a
23	chr9:94903088-94903138	NT2-D1	testis:	n/a
24	chr9:94903088-94903138	HCT-116	colon:	n/a
25	chr9:94903088-94903138	U87	brain:	n/a
26	chr9:94903088-94903138	SKMC	muscle:	n/a
27	chr9:94903088-94903138	RPTEC	kidney:	n/a
28	chr9:94903088-94903138	HNPCEpiC	eye:	n/a
29	chr9:94903088-94903138	HIPEpiC	eye:	n/a
30	chr9:94903088-94903138	SK-N-SH	brain:	n/a
31	chr9:94903088-94903138	AG09319	gingival:	n/a
32	chr9:94903088-94903138	Hela-S3	cervix:	n/a
33	chr9:94903088-94903138	PrEC	prostate:	n/a
34	chr9:94903088-94903138	ProgFib	skin:	n/a
35	chr9:94903088-94903138	SK-N-SH_RA	brain:	n/a
36	chr9:94903088-94903138	NHDF-neo	bronchial:	n/a
37	chr9:94903088-94903138	NB4	blood:	n/a
38	chr9:94903088-94903138	SK-N-MC	brain:	n/a
39	chr9:94903088-94903138	HL-60	blood:	n/a
40	chr9:94903088-94903138	GM12892	blood:	n/a
41	chr9:94903088-94903138	HepG2	liver:	n/a
42	chr9:94903088-94903138	Caco-2	colon:	n/a
43	chr9:94903088-94903138	CMK	blood:	n/a
44	chr9:94903088-94903138	GM19239	blood:	n/a
45	chr9:94903088-94903138	ECC-1	luminal epithelium:	n/a
46	chr9:94903088-94903138	BJ	skin:	n/a
47	chr9:94903088-94903138	HCPEpiC	choroid plexus:	n/a
48	chr9:94903088-94903138	NH-A	brain:	n/a
49	chr9:94903088-94903138	HCF	heart:	n/a
50	chr9:94903088-94903138	GM06990	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:94900325..94903739-chr9:94909399..94912070,4	MCF-7	breast:
2	chr9:94902262..94903203-chr9:95396707..95397642,2	K562	blood:
3	chr1:117477349..117478025-chr9:94902653..94903339,2	MCF-7	breast:
4	chr9:94902342..94903195-chr9:95004476..95005483,4	MCF-7	breast:
5	chr9:94901685..94904988-chr9:95003695..95006795,3	MCF-7	breast:
6	chr9:94898906..94903668-chr9:95086648..95090271,5	MCF-7	breast:
7	chr9:94902503..94903236-chr9:95396725..95397397,2	MCF-7	breast:
8	chr9:94902223..94905302-chr9:94908199..94910430,4	MCF-7	breast:
9	chr9:94902180..94903465-chr9:95004247..95005390,7	MCF-7	breast:

Variant related genes	Relation type
LINC00475	TF binding region
LINC00475	CpG island
ENSG00000196305	Chromatin interaction
ENSG00000188312	Chromatin interaction
ENSG00000198000	Chromatin interaction
ENSG00000225511	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10992240	0.88[ASN][1000 genomes]
rs10992241	0.88[ASN][1000 genomes]
rs10992250	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1970119	0.87[ASN][1000 genomes]
rs2398673	0.88[ASN][1000 genomes]
rs35121804	0.93[ASN][1000 genomes]
rs35814773	0.93[ASN][1000 genomes]
rs3858094	0.88[ASN][1000 genomes]
rs4391487	1.00[ASN][1000 genomes]
rs55667598	0.88[ASN][1000 genomes]
rs55801573	1.00[ASN][1000 genomes]
rs56319302	0.98[ASN][1000 genomes]
rs62564361	0.93[ASN][1000 genomes]
rs62564363	0.93[ASN][1000 genomes]
rs62564364	0.93[ASN][1000 genomes]
rs62568697	0.88[ASN][1000 genomes]
rs7465866	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv969760	chr9:94877924-94966209	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv893572	chr9:94891778-94944778	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv972778	chr9:94902068-94908273	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94900200-94903200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:94902200-94903200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:94902200-94904200	Enhancers	Liver	Liver
4	chr9:94902400-94903200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:94902400-94903200	Bivalent Enhancer	Fetal Stomach	stomach
6	chr9:94902600-94903200	Bivalent Enhancer	Fetal Intestine Large	intestine
7	chr9:94902600-94903400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:94902600-94903600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
9	chr9:94902600-94903600	Bivalent Enhancer	Fetal Thymus	thymus
10	chr9:94902600-94903600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
11	chr9:94902800-94903200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr9:94902800-94903200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:94902800-94903200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:94902800-94903200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
15	chr9:94902800-94903200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:94902800-94903200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr9:94902800-94903200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
18	chr9:94902800-94903200	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
19	chr9:94902800-94903200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
20	chr9:94902800-94903200	Bivalent Enhancer	Brain Angular Gyrus	brain
21	chr9:94902800-94903200	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
22	chr9:94902800-94903200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr9:94902800-94903200	Bivalent Enhancer	Fetal Brain Female	brain
24	chr9:94902800-94903200	Bivalent Enhancer	Fetal Intestine Small	intestine
25	chr9:94902800-94903200	Flanking Active TSS	Gastric	stomach
26	chr9:94902800-94903200	Enhancers	Right Ventricle	heart
27	chr9:94902800-94903200	Enhancers	Hela-S3	cervix
28	chr9:94902800-94903200	Enhancers	HMEC	breast
29	chr9:94902800-94903400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr9:94902800-94903400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr9:94902800-94903400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
32	chr9:94902800-94903400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr9:94902800-94903400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:94902800-94903400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr9:94902800-94903400	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
36	chr9:94902800-94903400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
37	chr9:94902800-94903400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
38	chr9:94902800-94903400	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
39	chr9:94902800-94903400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
40	chr9:94902800-94903400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr9:94902800-94903400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr9:94902800-94903400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr9:94902800-94903400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr9:94902800-94903400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr9:94902800-94903400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
46	chr9:94902800-94903400	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr9:94902800-94903400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
48	chr9:94902800-94903400	Enhancers	Esophagus	oesophagus
49	chr9:94902800-94903400	Flanking Active TSS	Ovary	ovary
50	chr9:94902800-94903400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum

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