Variant report

Variant	rs550375419
Chromosome Location	chr9:116860538-116860539
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr9:116860361-116860612	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAZ	chr9:116860427-116861204	K562	blood:	n/a	n/a
3	MAX	chr9:116859920-116860941	A549	lung:	n/a	n/a
4	POLR2A	chr9:116860515-116860797	HCT-116	colon:	n/a	n/a
5	POLR2A	chr9:116860522-116860732	HCT-116	colon:	n/a	n/a
6	ZBTB7A	chr9:116859806-116861390	ECC-1	luminal epithelium:	n/a	chr9:116861008-116861015
7	ZBTB7A	chr9:116860030-116861518	ECC-1	luminal epithelium:	n/a	chr9:116861008-116861015
8	SP4	chr9:116860475-116860907	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr9:116860405-116860895	ECC-1	luminal epithelium:	n/a	n/a
10	E2F6	chr9:116860288-116860861	A549	lung:	n/a	chr9:116860320-116860330
11	TCF12	chr9:116860367-116860952	ECC-1	luminal epithelium:	n/a	n/a
12	TCF12	chr9:116859874-116860906	ECC-1	luminal epithelium:	n/a	n/a
13	NFIC	chr9:116859794-116860961	ECC-1	luminal epithelium:	n/a	n/a
14	NFIC	chr9:116859766-116860959	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr9:116860430-116860790	ECC-1	luminal epithelium:	n/a	n/a
16	EP300	chr9:116859799-116860821	ECC-1	luminal epithelium:	n/a	n/a
17	MAZ	chr9:116860372-116861075	IMR90	lung:	n/a	n/a
18	POLR2A	chr9:116860514-116860753	A549	lung:	n/a	n/a
19	ZNF263	chr9:116859582-116860745	HEK293-T-REx	kidney:	n/a	n/a
20	POLR2A	chr9:116860538-116860762	MCF-7	breast:	n/a	n/a
21	MAX	chr9:116860004-116860686	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:116860500-116860550	SK-N-MC	brain:	n/a
2	chr9:116860500-116860550	K562	blood:	n/a
3	chr9:116860500-116860550	HCF	heart:	n/a
4	chr9:116860500-116860550	HRE	kidney:	n/a
5	chr9:116860500-116860550	HMEC	breast:	n/a
6	chr9:116860500-116860550	Hela-S3	cervix:	n/a
7	chr9:116860500-116860550	SAEC	small airway:	n/a
8	chr9:116860500-116860550	BE2_C	brain:	n/a
9	chr9:116860500-116860550	ECC-1	luminal epithelium:	n/a
10	chr9:116860500-116860550	PrEC	prostate:	n/a
11	chr9:116860500-116860550	SK-N-SH_RA	brain:	n/a
12	chr9:116860500-116860550	HCT-116	colon:	n/a
13	chr9:116860500-116860550	NT2-D1	testis:	n/a
14	chr9:116860500-116860550	LNCaP	prostate:	n/a
15	chr9:116860500-116860550	T-47D	breast:	n/a
16	chr9:116860500-116860550	BJ	skin:	n/a
17	chr9:116860500-116860550	RPTEC	kidney:	n/a
18	chr9:116860500-116860550	AG04450	lung:	fetal
19	chr9:116860500-116860550	GM19239	blood:	n/a
20	chr9:116860500-116860550	GM12892	blood:	n/a
21	chr9:116860500-116860550	CMK	blood:	n/a
22	chr9:116860500-116860550	U87	brain:	n/a
23	chr9:116860500-116860550	HL-60	blood:	n/a
24	chr9:116860500-116860550	AG09319	gingival:	n/a
25	chr9:116860500-116860550	HPAEpiC	pulmonary alveolar:	n/a
26	chr9:116860500-116860550	HNPCEpiC	eye:	n/a
27	chr9:116860500-116860550	NHBE	bronchial:	n/a
28	chr9:116860500-116860550	HEK293	kidney:	embryo
29	chr9:116860500-116860550	AG10803	skin:	n/a
30	chr9:116860500-116860550	HRCEpiC	kidney:	n/a
31	chr9:116860500-116860550	Caco-2	colon:	n/a
32	chr9:116860500-116860550	NH-A	brain:	n/a
33	chr9:116860500-116860550	IMR90	lung:	fetal
34	chr9:116860500-116860550	AG04449	skin:	fetal
35	chr9:116860500-116860550	MCF-7	breast:	n/a
36	chr9:116860500-116860550	MCF10A-Er-Src	breast:	n/a
37	chr9:116860500-116860550	PFSK-1	brain:	n/a
38	chr9:116860500-116860550	HEEpiC	esophagus:	n/a
39	chr9:116860500-116860550	GM06990	blood:	n/a
40	chr9:116860500-116860550	HCPEpiC	choroid plexus:	n/a
41	chr9:116860500-116860550	SK-N-SH	brain:	n/a
42	chr9:116860500-116860550	H1-hESC	embryonic stem cell:	embryo
43	chr9:116860500-116860550	NB4	blood:	n/a
44	chr9:116860500-116860550	HRPEpiC	eye:	n/a
45	chr9:116860500-116860550	ProgFib	skin:	n/a
46	chr9:116860500-116860550	NHDF-neo	bronchial:	n/a
47	chr9:116860500-116860550	A549	lung:	n/a
48	chr9:116860500-116860550	HCM	heart:	n/a
49	chr9:116860500-116860550	ovcar-3	ovarian:	n/a
50	chr9:116860500-116860550	AG09309	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116637031..116639708-chr9:116859646..116861440,2	MCF-7	breast:

No data

Variant related genes	Relation type
KIF12	TF binding region
KIF12	CpG island
ENSG00000157657	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers 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 miRNA target site	165 gene(s)	inside rSNPs	diseases
2	esv2422396	chr9:116792944-117354862	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
3	nsv466514	chr9:116810890-116867054	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv615222	chr9:116810890-116867054	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	esv2422492	chr9:116811294-117366643	Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
6	esv2761285	chr9:116811897-117103268	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
7	nsv466515	chr9:116814661-116867054	Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv615223	chr9:116814661-116867054	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv528822	chr9:116815777-116867054	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv466516	chr9:116815777-116867054	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv466518	chr9:116815777-116867054	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv466519	chr9:116815777-116867054	Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv466520	chr9:116815777-116867054	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv466521	chr9:116815777-116867054	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
15	nsv466522	chr9:116815777-116867054	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv466523	chr9:116815777-116867054	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
17	nsv471319	chr9:116815777-116867054	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
18	nsv615224	chr9:116815777-116867054	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
19	nsv466524	chr9:116826842-116867054	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv466525	chr9:116826842-116867054	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv615225	chr9:116826842-116867054	Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	nsv870215	chr9:116842614-117070344	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	124 gene(s)	inside rSNPs	diseases
23	nsv893751	chr9:116846467-116874355	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	nsv515856	chr9:116853797-116867054	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	esv3326630	chr9:116859356-116862304	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	esv3328680	chr9:116859781-116862229	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116858800-116862200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr9:116859200-116860600	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr9:116859400-116860600	Bivalent Enhancer	Fetal Brain Male	brain
4	chr9:116859400-116861400	Active TSS	Fetal Kidney	kidney
5	chr9:116859400-116862200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr9:116859600-116861800	Bivalent Enhancer	Placenta	Placenta
7	chr9:116859800-116860600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:116859800-116860600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
9	chr9:116859800-116860800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
10	chr9:116859800-116860800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
11	chr9:116859800-116860800	Flanking Active TSS	HMEC	breast
12	chr9:116859800-116861200	Enhancers	Liver	Liver
13	chr9:116859800-116861400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr9:116859800-116861600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr9:116859800-116862400	Enhancers	Spleen	Spleen
16	chr9:116860000-116860600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:116860000-116860600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr9:116860000-116860600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:116860000-116860600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr9:116860000-116860600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:116860000-116860600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
22	chr9:116860000-116860800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr9:116860000-116860800	Active TSS	Aorta	Aorta
24	chr9:116860000-116860800	Flanking Active TSS	Colonic Mucosa	Colon
25	chr9:116860000-116861400	Active TSS	Gastric	stomach
26	chr9:116860000-116861400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
27	chr9:116860000-116861600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr9:116860000-116861600	Bivalent Enhancer	NH-A	brain
29	chr9:116860000-116861800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr9:116860000-116862000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr9:116860200-116860600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr9:116860200-116860600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr9:116860200-116860600	Bivalent Enhancer	Primary B cells from cord blood	blood
34	chr9:116860200-116860600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
35	chr9:116860200-116860600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr9:116860200-116860600	Bivalent Enhancer	Adipose Nuclei	Adipose
37	chr9:116860200-116860600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
38	chr9:116860200-116860600	Active TSS	Stomach Mucosa	stomach
39	chr9:116860200-116860600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
40	chr9:116860200-116860800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr9:116860200-116860800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr9:116860200-116860800	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr9:116860200-116860800	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
44	chr9:116860200-116860800	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr9:116860200-116860800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr9:116860200-116860800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr9:116860200-116860800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
48	chr9:116860200-116860800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
49	chr9:116860200-116860800	Enhancers	Left Ventricle	heart
50	chr9:116860200-116860800	Bivalent/Poised TSS	HSMM	muscle

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