Variant report

Variant	rs117356270
Chromosome Location	chr9:94711487-94711488
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	BACH1	chr9:94711162-94711495	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAZ	chr9:94710719-94713473	IMR90	lung:	n/a	chr9:94710846-94710856
3	GTF2F1	chr9:94711166-94711503	K562	blood:	n/a	n/a
4	MXI1	chr9:94710177-94713341	SK-N-SH	brain:	n/a	n/a
5	SIN3AK20	chr9:94710961-94711540	K562	blood:	n/a	n/a
6	ZBTB7A	chr9:94711005-94712853	K562	blood:	n/a	n/a
7	UBTF	chr9:94710450-94712833	K562	blood:	n/a	n/a
8	POLR2A	chr9:94710760-94712921	K562	blood:	n/a	n/a
9	CTCF	chr9:94711460-94711610	A549	lung:	n/a	n/a
10	CTCF	chr9:94711380-94711530	AoAF	blood vessel:	n/a	n/a
11	GABPA	chr9:94710825-94711519	K562	blood:	n/a	chr9:94711115-94711124
12	CTCF	chr9:94711360-94711510	NHEK	skin:	n/a	n/a
13	ZNF263	chr9:94710311-94712868	HEK293-T-REx	kidney:	n/a	chr9:94711764-94711773
14	TAF1	chr9:94710938-94711573	K562	blood:	n/a	n/a
15	RCOR1	chr9:94710360-94711669	K562	blood:	n/a	n/a
16	MYC	chr9:94710322-94711555	K562	blood:	n/a	chr9:94710846-94710856
17	MAX	chr9:94710348-94711807	K562	blood:	n/a	chr9:94710846-94710856
18	SIN3A	chr9:94711433-94711678	H1-hESC	embryonic stem cell:	n/a	chr9:94711594-94711608
19	CCNT2	chr9:94710887-94712937	K562	blood:	n/a	chr9:94711693-94711702 chr9:94711618-94711627 chr9:94711360-94711369
20	POLR2A	chr9:94710884-94711823	K562	blood:	n/a	n/a
21	ZNF143	chr9:94711099-94711644	H1-hESC	embryonic stem cell:	n/a	chr9:94711386-94711395 chr9:94711611-94711621 chr9:94711384-94711402
22	TAF1	chr9:94711031-94711601	K562	blood:	n/a	n/a
23	SMC3	chr9:94711080-94711496	K562	blood:	n/a	n/a
24	POLR2A	chr9:94710953-94711498	K562	blood:	n/a	n/a
25	POLR2A	chr9:94710745-94711761	H1-neurons	neurons:	n/a	n/a
26	JUN	chr9:94710813-94711847	K562	blood:	n/a	chr9:94711116-94711125
27	HMGN3	chr9:94710949-94713061	K562	blood:	n/a	n/a
28	HA-E2F1	chr9:94710632-94711498	MCF-7	breast:	n/a	chr9:94711115-94711124 chr9:94711366-94711378 chr9:94711169-94711181
29	POLR2A	chr9:94710818-94711638	K562	blood:	n/a	n/a
30	POLR2A	chr9:94710323-94711834	K562	blood:	n/a	n/a
31	ZBTB7A	chr9:94710980-94711553	ECC-1	luminal epithelium:	n/a	n/a
32	CTCF	chr9:94711400-94711550	NHLF	lung:	n/a	n/a
33	EGR1	chr9:94710538-94711577	HCT-116	colon:	n/a	chr9:94711383-94711407 chr9:94711130-94711143 chr9:94711127-94711141 chr9:94711130-94711143 chr9:94711119-94711129 chr9:94711131-94711140 chr9:94711115-94711125 chr9:94711131-94711141
34	CTCF	chr9:94711340-94711490	MCF-7	breast:	n/a	n/a
35	EGR1	chr9:94710660-94711734	HCT-116	colon:	n/a	chr9:94711383-94711407 chr9:94711130-94711143 chr9:94711613-94711626 chr9:94711127-94711141 chr9:94711130-94711143 chr9:94711119-94711129 chr9:94711131-94711140 chr9:94711619-94711632 chr9:94711115-94711125 chr9:94711620-94711629 chr9:94711131-94711141
36	ZBTB7A	chr9:94711150-94711620	K562	blood:	n/a	n/a
37	CTCF	chr9:94711380-94711530	GM12875	blood:	n/a	n/a
38	UBTF	chr9:94710310-94713296	K562	blood:	n/a	n/a
39	CTCF	chr9:94711380-94711530	HCM	heart:	n/a	n/a
40	CTCF	chr9:94710914-94711498	K562	blood:	n/a	chr9:94711213-94711226 chr9:94711211-94711229
41	ZBTB7A	chr9:94711387-94711835	ECC-1	luminal epithelium:	n/a	n/a
42	CTCF	chr9:94711400-94711550	HPAF	blood vessel:	n/a	n/a
43	ZNF263	chr9:94710893-94711543	K562	blood:	n/a	n/a
44	POLR2A	chr9:94710792-94711674	K562	blood:	n/a	n/a
45	RAD21	chr9:94710954-94711651	H1-hESC	embryonic stem cell:	n/a	chr9:94711213-94711227
46	ELF1	chr9:94711022-94711487	K562	blood:	n/a	chr9:94711403-94711415
47	RAD21	chr9:94710217-94713260	SK-N-SH	brain:	n/a	chr9:94710847-94710857 chr9:94713037-94713050 chr9:94711213-94711227
48	MAZ	chr9:94710364-94713040	K562	blood:	n/a	chr9:94710846-94710856
49	CTBP2	chr9:94710859-94712998	H1-hESC	embryonic stem cell:	n/a	n/a
50	EGR1	chr9:94710797-94711523	MCF-7	breast:	n/a	chr9:94711383-94711407 chr9:94711130-94711143 chr9:94711127-94711141 chr9:94711130-94711143 chr9:94711119-94711129 chr9:94711131-94711140 chr9:94711115-94711125 chr9:94711131-94711141

Variant related genes	Relation type
ROR2	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	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
3	nsv530946	chr9:94633154-94715023	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv831653	chr9:94692454-94867542	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	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
8	nsv982625	chr9:94702344-94712887	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv3359987	chr9:94710956-94713704	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94709200-94713200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:94709800-94713200	Active TSS	Fetal Kidney	kidney
3	chr9:94710000-94712800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:94710000-94712800	Active TSS	K562	blood
5	chr9:94710000-94714000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:94710200-94713000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr9:94710200-94713200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:94710200-94713200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr9:94710200-94713200	Active TSS	Colon Smooth Muscle	Colon
10	chr9:94710400-94711800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr9:94710400-94711800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr9:94710400-94712000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
13	chr9:94710400-94712000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
14	chr9:94710400-94712200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:94710400-94712200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:94710400-94712600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
17	chr9:94710400-94713000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:94710400-94713200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:94710400-94713200	Active TSS	Fetal Lung	lung
20	chr9:94710400-94713400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr9:94710600-94711800	Bivalent Enhancer	Liver	Liver
22	chr9:94710600-94711800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
23	chr9:94710600-94711800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
24	chr9:94710600-94712000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
25	chr9:94710600-94712600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
26	chr9:94710600-94712800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:94710600-94712800	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr9:94710600-94712800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:94710600-94713000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr9:94710600-94713200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr9:94710600-94713200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
32	chr9:94710600-94713200	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr9:94710600-94713400	Active TSS	Ovary	ovary
34	chr9:94710800-94711600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
35	chr9:94710800-94711800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
36	chr9:94710800-94711800	Flanking Bivalent TSS/Enh	HMEC	breast
37	chr9:94710800-94712000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
38	chr9:94710800-94712000	Flanking Bivalent TSS/Enh	Placenta	Placenta
39	chr9:94710800-94712200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr9:94710800-94712400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:94710800-94712400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr9:94710800-94712400	Bivalent/Poised TSS	Small Intestine	intestine
43	chr9:94710800-94712600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr9:94710800-94712600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr9:94710800-94712600	Bivalent/Poised TSS	Left Ventricle	heart
46	chr9:94710800-94712800	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr9:94710800-94712800	Bivalent/Poised TSS	Thymus	Thymus
48	chr9:94710800-94713000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr9:94710800-94713000	Active TSS	Rectal Smooth Muscle	rectum
50	chr9:94710800-94713200	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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