Variant report

Variant	rs112240170
Chromosome Location	chr1:228604846-228604847
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr1:228603223-228605202	SK-N-SH	brain:	n/a	chr1:228603755-228603770

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:228604800-228604850	NB4	blood:	n/a
2	chr1:228604800-228604850	HepG2	liver:	n/a
3	chr1:228604800-228604850	HCPEpiC	choroid plexus:	n/a
4	chr1:228604800-228604850	HIPEpiC	eye:	n/a
5	chr1:228604800-228604850	SK-N-SH	brain:	n/a
6	chr1:228604800-228604850	HRCEpiC	kidney:	n/a
7	chr1:228604800-228604850	GM12878	blood:	n/a
8	chr1:228604800-228604850	HL-60	blood:	n/a
9	chr1:228604800-228604850	Hepatocyte	liver:	n/a
10	chr1:228604800-228604850	GM19239	blood:	n/a
11	chr1:228604800-228604850	K562	blood:	n/a
12	chr1:228604800-228604850	AG09319	gingival:	n/a
13	chr1:228604800-228604850	PANC-1	pancreas:	n/a
14	chr1:228604800-228604850	GM06990	blood:	n/a
15	chr1:228604800-228604850	HCT-116	colon:	n/a
16	chr1:228604800-228604850	A549	lung:	n/a
17	chr1:228604800-228604850	PFSK-1	brain:	n/a
18	chr1:228604800-228604850	Jurkat	blood:	n/a
19	chr1:228604800-228604850	AG10803	skin:	n/a
20	chr1:228604800-228604850	H1-hESC	embryonic stem cell:	embryo
21	chr1:228604800-228604850	HUVEC	blood vessel:	n/a
22	chr1:228604800-228604850	LNCaP	prostate:	n/a
23	chr1:228604800-228604850	SK-N-SH_RA	brain:	n/a
24	chr1:228604800-228604850	PrEC	prostate:	n/a
25	chr1:228604800-228604850	NH-A	brain:	n/a
26	chr1:228604800-228604850	HNPCEpiC	eye:	n/a
27	chr1:228604800-228604850	GM12891	blood:	n/a
28	chr1:228604800-228604850	GM12892	blood:	n/a
29	chr1:228604800-228604850	AG04450	lung:	fetal
30	chr1:228604800-228604850	HCM	heart:	n/a
31	chr1:228604800-228604850	HCF	heart:	n/a
32	chr1:228604800-228604850	CMK	blood:	n/a
33	chr1:228604800-228604850	AG09309	skin:	n/a
34	chr1:228604800-228604850	AG04449	skin:	fetal
35	chr1:228604800-228604850	SKMC	muscle:	n/a
36	chr1:228604800-228604850	Caco-2	colon:	n/a
37	chr1:228604800-228604850	ECC-1	luminal epithelium:	n/a
38	chr1:228604800-228604850	HEK293	kidney:	embryo
39	chr1:228604800-228604850	HRPEpiC	eye:	n/a
40	chr1:228604800-228604850	HEEpiC	esophagus:	n/a
41	chr1:228604800-228604850	BE2_C	brain:	n/a
42	chr1:228604800-228604850	BJ	skin:	n/a
43	chr1:228604800-228604850	HRE	kidney:	n/a
44	chr1:228604800-228604850	SK-N-MC	brain:	n/a
45	chr1:228604800-228604850	AoSMC	blood vessel:	n/a
46	chr1:228604800-228604850	T-47D	breast:	n/a
47	chr1:228604800-228604850	U87	brain:	n/a
48	chr1:228604800-228604850	MCF-7	breast:	n/a
49	chr1:228604800-228604850	ProgFib	skin:	n/a
50	chr1:228604800-228604850	IMR90	lung:	fetal

No data

Variant related genes	Relation type
TRIM17	TF binding region
TRIM17	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
5	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	nsv873270	chr1:228442663-228699477	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
7	nsv1009891	chr1:228450763-228742676	Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
8	nsv517545	chr1:228456147-228685999	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
9	nsv1013500	chr1:228459134-228849601	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
10	nsv470780	chr1:228464248-228606965	Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv873279	chr1:228494790-228681195	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
12	nsv873281	chr1:228505739-228656780	Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
13	esv1808261	chr1:228509427-228674518	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
14	esv2829948	chr1:228509427-228687948	Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
15	nsv508697	chr1:228540037-228622614	Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
16	nsv549296	chr1:228585837-228720480	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
17	esv3325014	chr1:228603354-228605902	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	esv3430608	chr1:228603354-228605902	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228596400-228615400	Weak transcription	A549	lung
2	chr1:228603000-228605400	Enhancers	Lung	lung
3	chr1:228603400-228605000	Enhancers	Gastric	stomach
4	chr1:228603600-228605000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
5	chr1:228603600-228605000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
6	chr1:228603600-228605200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:228603800-228605000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr1:228603800-228605000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr1:228603800-228605000	Weak transcription	K562	blood
10	chr1:228603800-228605200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:228603800-228605200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr1:228603800-228605400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr1:228604000-228605200	Bivalent Enhancer	Primary B cells from cord blood	blood
14	chr1:228604000-228605200	Bivalent Enhancer	Fetal Brain Male	brain
15	chr1:228604200-228605000	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
16	chr1:228604200-228605000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:228604200-228605000	Bivalent Enhancer	Brain Hippocampus Middle	brain
18	chr1:228604200-228605200	Bivalent Enhancer	Placenta	Placenta
19	chr1:228604200-228605200	Weak transcription	NH-A	brain
20	chr1:228604200-228605400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
21	chr1:228604200-228605400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr1:228604200-228605600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:228604200-228605600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:228604200-228606000	Enhancers	Pancreas	Pancrea
25	chr1:228604400-228605000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:228604400-228605000	Bivalent Enhancer	Fetal Intestine Small	intestine
27	chr1:228604400-228605000	Bivalent Enhancer	Fetal Stomach	stomach
28	chr1:228604400-228605000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
29	chr1:228604400-228605000	Weak transcription	Spleen	Spleen
30	chr1:228604400-228605200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr1:228604400-228606200	Enhancers	Placenta Amnion	Placenta Amnion
32	chr1:228604400-228606200	Enhancers	HMEC	breast
33	chr1:228604600-228605000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:228604600-228605000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:228604600-228605000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:228604600-228605000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:228604600-228605000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
38	chr1:228604600-228605000	Enhancers	Right Atrium	heart
39	chr1:228604600-228605000	Bivalent Enhancer	Thymus	Thymus
40	chr1:228604600-228605200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
41	chr1:228604600-228605200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:228604600-228605200	Enhancers	Right Ventricle	heart
43	chr1:228604600-228605400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr1:228604600-228605400	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr1:228604600-228605600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:228604600-228605600	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr1:228604600-228605600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:228604600-228605600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:228604600-228605600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:228604600-228605600	Bivalent Enhancer	Fetal Intestine Large	intestine

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