Variant report

Variant	rs73537095
Chromosome Location	chr9:116111627-116111628
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr9:116111447-116112067	H1-hESC	embryonic stem cell:	n/a	n/a
2	GTF2F1	chr9:116111576-116111776	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr9:116111611-116112043	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr9:116111602-116112152	HCT-116	colon:	n/a	n/a
5	POLR2A	chr9:116111626-116112155	ECC-1	luminal epithelium:	n/a	n/a
6	MAX	chr9:116111508-116112076	MCF-7	breast:	n/a	n/a
7	POLR2A	chr9:116111428-116112778	PBDE	blood:	n/a	n/a
8	HA-E2F1	chr9:116111340-116112421	MCF-7	breast:	n/a	chr9:116112072-116112087 chr9:116111811-116111820 chr9:116111807-116111816 chr9:116111788-116111797 chr9:116111802-116111812
9	SIN3A	chr9:116111400-116112345	H1-hESC	embryonic stem cell:	n/a	chr9:116112144-116112155
10	YY1	chr9:116111619-116112074	H1-hESC	embryonic stem cell:	n/a	chr9:116111759-116111773 chr9:116111811-116111820 chr9:116111808-116111819 chr9:116111788-116111797 chr9:116111805-116111819
11	POLR2A	chr9:116111522-116112473	HCT-116	colon:	n/a	n/a
12	MAX	chr9:116111571-116112369	ECC-1	luminal epithelium:	n/a	n/a
13	ZEB1	chr9:116111613-116112265	GM12878	blood:	n/a	n/a
14	ZEB1	chr9:116111441-116112080	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:116111618-116111668	MCF10A-Er-Src	breast:	n/a
2	chr9:116111618-116111668	NH-A	brain:	n/a
3	chr9:116111618-116111668	MCF-7	breast:	n/a
4	chr9:116111618-116111668	GM06990	blood:	n/a
5	chr9:116111618-116111668	HEEpiC	esophagus:	n/a
6	chr9:116111618-116111668	AG04449	skin:	fetal
7	chr9:116111618-116111668	HRPEpiC	eye:	n/a
8	chr9:116111618-116111668	NT2-D1	testis:	n/a
9	chr9:116111618-116111668	HUVEC	blood vessel:	n/a
10	chr9:116111618-116111668	SK-N-SH_RA	brain:	n/a
11	chr9:116111618-116111668	SAEC	small airway:	n/a
12	chr9:116111618-116111668	GM12878	blood:	n/a
13	chr9:116111618-116111668	HCPEpiC	choroid plexus:	n/a
14	chr9:116111618-116111668	HepG2	liver:	n/a
15	chr9:116111618-116111668	SKMC	muscle:	n/a
16	chr9:116111618-116111668	IMR90	lung:	fetal
17	chr9:116111618-116111668	AG10803	skin:	n/a
18	chr9:116111618-116111668	GM12892	blood:	n/a
19	chr9:116111618-116111668	Hela-S3	cervix:	n/a
20	chr9:116111618-116111668	HCM	heart:	n/a
21	chr9:116111618-116111668	T-47D	breast:	n/a
22	chr9:116111618-116111668	AG09319	gingival:	n/a
23	chr9:116111618-116111668	NHBE	bronchial:	n/a
24	chr9:116111618-116111668	NB4	blood:	n/a
25	chr9:116111618-116111668	PANC-1	pancreas:	n/a
26	chr9:116111618-116111668	A549	lung:	n/a
27	chr9:116111618-116111668	HMEC	breast:	n/a
28	chr9:116111618-116111668	HPAEpiC	pulmonary alveolar:	n/a
29	chr9:116111618-116111668	Hepatocyte	liver:	n/a
30	chr9:116111618-116111668	PFSK-1	brain:	n/a
31	chr9:116111618-116111668	AG04450	lung:	fetal
32	chr9:116111618-116111668	RPTEC	kidney:	n/a
33	chr9:116111618-116111668	HAEpiC	amniotic membrane:	n/a
34	chr9:116111618-116111668	ovcar-3	ovarian:	n/a
35	chr9:116111618-116111668	HIPEpiC	eye:	n/a
36	chr9:116111618-116111668	GM12891	blood:	n/a
37	chr9:116111618-116111668	H1-hESC	embryonic stem cell:	embryo
38	chr9:116111618-116111668	ProgFib	skin:	n/a
39	chr9:116111618-116111668	Jurkat	blood:	n/a
40	chr9:116111618-116111668	LNCaP	prostate:	n/a
41	chr9:116111618-116111668	SK-N-MC	brain:	n/a
42	chr9:116111618-116111668	SK-N-SH	brain:	n/a
43	chr9:116111618-116111668	GM19239	blood:	n/a
44	chr9:116111618-116111668	HCT-116	colon:	n/a
45	chr9:116111618-116111668	HEK293	kidney:	embryo
46	chr9:116111618-116111668	ECC-1	luminal epithelium:	n/a
47	chr9:116111618-116111668	K562	blood:	n/a
48	chr9:116111618-116111668	AoSMC	blood vessel:	n/a
49	chr9:116111618-116111668	HNPCEpiC	eye:	n/a
50	chr9:116111618-116111668	HL-60	blood:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:116109902..116113383-chr9:116162345..116166968,8	MCF-7	breast:
2	chr9:116060077..116063011-chr9:116109868..116112387,2	MCF-7	breast:
3	chr9:116110213..116113414-chr9:116171126..116174421,5	MCF-7	breast:
4	chr9:116111218..116114895-chr9:116159419..116161993,4	MCF-7	breast:
5	chr9:116108846..116117047-chr9:116126327..116140994,30	MCF-7	breast:
6	chr9:116109912..116111859-chr9:116161206..116163943,2	K562	blood:
7	chr9:116101294..116104058-chr9:116110419..116112658,2	K562	blood:

No data

Variant related genes	Relation type
BSPRY	TF binding region
BSPRY	CpG island
ENSG00000148218	Chromatin interaction
ENSG00000148229	Chromatin interaction
ENSG00000148225	Chromatin interaction
ENSG00000165188	Chromatin interaction
ENSG00000157653	Chromatin interaction
ENSG00000119431	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10981760	0.88[AFR][1000 genomes]
rs2233915	1.00[AMR][1000 genomes]
rs28495580	0.87[AFR][1000 genomes]
rs28607343	0.88[AFR][1000 genomes]
rs60528957	0.85[AFR][1000 genomes]
rs66649870	0.88[AFR][1000 genomes]
rs73537011	1.00[AMR][1000 genomes]
rs73550250	1.00[AMR][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	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1042663	chr9:115920158-116167140	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv893744	chr9:115934852-116170227	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv519849	chr9:116111407-116144973	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr9:116103000-116111800	Weak transcription	Lung	lung
2	chr9:116106600-116111800	Weak transcription	K562	blood
3	chr9:116108000-116112000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr9:116108200-116112000	Weak transcription	Brain Substantia Nigra	brain
5	chr9:116108800-116111800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:116110200-116112000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr9:116111200-116112000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
8	chr9:116111200-116112400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr9:116111200-116112400	Bivalent/Poised TSS	Fetal Kidney	kidney
10	chr9:116111200-116112400	Active TSS	Rectal Smooth Muscle	rectum
11	chr9:116111200-116112600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr9:116111200-116112600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr9:116111200-116112600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr9:116111200-116112800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr9:116111200-116113000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr9:116111200-116113000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr9:116111200-116113000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr9:116111400-116111800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:116111400-116111800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:116111400-116111800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:116111400-116111800	Enhancers	Esophagus	oesophagus
22	chr9:116111400-116112000	Active TSS	Primary B cells from cord blood	blood
23	chr9:116111400-116112000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr9:116111400-116112000	Enhancers	Liver	Liver
25	chr9:116111400-116112000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr9:116111400-116112200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
27	chr9:116111400-116112200	Active TSS	Duodenum Mucosa	Duodenum
28	chr9:116111400-116112200	Bivalent/Poised TSS	A549	lung
29	chr9:116111400-116112400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:116111400-116112600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr9:116111400-116112600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr9:116111400-116112800	Active TSS	Pancreas	Pancrea
33	chr9:116111400-116113600	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr9:116111400-116114000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr9:116111600-116111800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
36	chr9:116111600-116111800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr9:116111600-116111800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr9:116111600-116111800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr9:116111600-116111800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr9:116111600-116111800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr9:116111600-116111800	Active TSS	Ovary	ovary
42	chr9:116111600-116111800	Active TSS	Psoas Muscle	Psoas
43	chr9:116111600-116111800	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr9:116111600-116111800	Flanking Bivalent TSS/Enh	Thymus	Thymus
45	chr9:116111600-116111800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
46	chr9:116111600-116112000	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr9:116111600-116112000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr9:116111600-116112000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr9:116111600-116112000	Active TSS	Adipose Nuclei	Adipose
50	chr9:116111600-116112000	Active TSS	Colonic Mucosa	Colon

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