Variant report

Variant	rs937765
Chromosome Location	chr12:123344910-123344911
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:274)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:123344829-123345104	Pancreas_OC	pancreas:	n/a	n/a
2	CTCF	chr12:123344860-123345010	HBMEC	blood vessel:	n/a	n/a
3	CTCF	chr12:123344900-123345050	AG04449	skin:	n/a	n/a
4	POLR2A	chr12:123344835-123345107	K562	blood:	n/a	n/a
5	CTCF	chr12:123344860-123345010	GM12801	blood:	n/a	n/a
6	CTCF	chr12:123344880-123345030	NHDF-neo	bronchial:	n/a	n/a
7	YY1	chr12:123344831-123345135	GM12878	blood:	n/a	chr12:123345092-123345103
8	JUND	chr12:123344845-123345119	K562	blood:	n/a	chr12:123345090-123345099 chr12:123345087-123345096
9	CTCF	chr12:123344812-123345104	A549	lung:	n/a	n/a
10	CTCF	chr12:123344900-123345050	Hela-S3	cervix:	n/a	n/a
11	ESRRA	chr12:123344707-123345340	GM12878	blood:	n/a	chr12:123344915-123344931 chr12:123344885-123344898 chr12:123344915-123344931
12	MAX	chr12:123344852-123345065	K562	blood:	n/a	n/a
13	CTCF	chr12:123344411-123345597	SK-N-SH	brain:	n/a	n/a
14	ZNF143	chr12:123344785-123345146	H1-hESC	embryonic stem cell:	n/a	n/a
15	ELK1	chr12:123344806-123344991	GM12878	blood:	n/a	n/a
16	CTCF	chr12:123344900-123345050	HCT-116	colon:	n/a	n/a
17	CTCF	chr12:123344860-123345010	HL-60	blood:	n/a	n/a
18	POLR2A	chr12:123344730-123345202	HepG2	liver:	n/a	n/a
19	CEBPB	chr12:123344674-123345108	Hela-S3	cervix:	n/a	n/a
20	TCF12	chr12:123344468-123345320	A549	lung:	n/a	n/a
21	CTCF	chr12:123344803-123345112	Kidney_OC	kidney:	n/a	n/a
22	MYC	chr12:123344831-123345116	NB4	blood:	n/a	chr12:123345075-123345084 chr12:123345085-123345095
23	POLR2A	chr12:123344832-123345450	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr12:123344761-123345152	HepG2	liver:	n/a	n/a
25	CTCF	chr12:123344880-123345030	NHEK	skin:	n/a	n/a
26	TBL1XR1	chr12:123344857-123345080	K562	blood:	n/a	n/a
27	CTCF	chr12:123344796-123345101	HepG2	liver:	n/a	n/a
28	CTCF	chr12:123344860-123345010	HAc	cerebellar:	n/a	n/a
29	RAD21	chr12:123344537-123345365	HCT-116	colon:	n/a	chr12:123345095-123345105
30	CTCF	chr12:123344812-123345110	MCF-7	breast:	n/a	n/a
31	STAT5A	chr12:123344793-123345183	GM12878	blood:	n/a	chr12:123345083-123345095 chr12:123345088-123345100
32	CTCF	chr12:123344812-123345101	GM10248	blood:	n/a	n/a
33	CTCF	chr12:123344811-123345184	K562	blood:	n/a	n/a
34	CTCF	chr12:123344880-123345030	HCT-116	colon:	n/a	n/a
35	RAD21	chr12:123344704-123345202	MCF-7	breast:	n/a	chr12:123345095-123345105
36	RXRA	chr12:123344857-123345116	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr12:123344817-123345184	GM12878	blood:	n/a	n/a
38	TEAD4	chr12:123344664-123345157	HepG2	liver:	n/a	n/a
39	CHD2	chr12:123344821-123344981	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr12:123344880-123345030	GM12871	blood:	n/a	n/a
41	JUND	chr12:123344853-123345077	H1-hESC	embryonic stem cell:	n/a	n/a
42	ELK1	chr12:123344863-123344951	K562	blood:	n/a	n/a
43	RAD21	chr12:123344783-123345180	HepG2	liver:	n/a	chr12:123345095-123345105
44	CTCF	chr12:123344746-123345190	GM12878	blood:	n/a	n/a
45	ZC3H11A	chr12:123344906-123345119	K562	blood:	n/a	n/a
46	RCOR1	chr12:123344832-123345130	K562	blood:	n/a	n/a
47	RAD21	chr12:123344788-123345149	K562	blood:	n/a	chr12:123345095-123345105
48	UBTF	chr12:123344841-123345104	K562	blood:	n/a	n/a
49	CTCF	chr12:123344900-123345050	Caco-2	colon:	n/a	n/a
50	CTCF	chr12:123344820-123345110	Fibrobl	skin:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123341647..123346113-chr12:123465146..123467618,4	K562	blood:
2	chr12:123344434..123345913-chr12:123436269..123437707,10	MCF-7	breast:
3	chr12:123343068..123345101-chr12:123464542..123466196,2	MCF-7	breast:
4	chr12:123329734..123338030-chr12:123339120..123345153,11	MCF-7	breast:
5	chr12:123344910..123345440-chr12:123436821..123437509,2	HCT-116	colon:
6	chr12:123318351..123322726-chr12:123344658..123350717,8	MCF-7	breast:
7	chr12:123344301..123346489-chr12:123716077..123720315,3	K562	blood:
8	chr12:123344672..123346333-chr12:123459122..123461016,2	MCF-7	breast:
9	chr12:123344900..123345435-chr12:123431652..123432233,2	K562	blood:

No data

Variant related genes	Relation type
HIP1R	TF binding region
ENSG00000256152	TF binding region
ENSG00000256028	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000130787	Chromatin interaction
ENSG00000111325	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000182196	Chromatin interaction
ENSG00000051825	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1026395	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1037593	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10744394	0.88[EUR][1000 genomes]
rs10744439	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10847910	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11060211	0.92[EUR][1000 genomes]
rs1671684	0.92[EUR][1000 genomes]
rs1671686	0.92[EUR][1000 genomes]
rs1696327	0.92[EUR][1000 genomes]
rs2061099	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271048	1.00[EUR][1000 genomes]
rs2343107	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649904	0.92[EUR][1000 genomes]
rs4759351	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4759352	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4759353	0.92[EUR][1000 genomes]
rs4759354	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4759384	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4759388	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138257	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298176	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306047	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306948	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7485652	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958155	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs897384	0.96[EUR][1000 genomes]
rs897388	0.92[EUR][1000 genomes]

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	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS 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 miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	nsv899574	chr12:123316566-123360151	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv560490	chr12:123326374-123346971	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv899575	chr12:123326374-123360151	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123322800-123353000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:123323200-123352000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:123324600-123352800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:123324800-123351600	Weak transcription	Small Intestine	intestine
5	chr12:123326600-123345000	Weak transcription	A549	lung
6	chr12:123327400-123352600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:123327600-123353400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:123329200-123355000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:123330400-123349200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:123332600-123355600	Strong transcription	Thymus	Thymus
11	chr12:123333000-123345000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:123335200-123347000	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:123337200-123348800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:123337400-123348400	Weak transcription	HSMM	muscle
15	chr12:123337400-123356200	Weak transcription	Fetal Kidney	kidney
16	chr12:123337600-123348200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:123337600-123351000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:123337600-123351400	Weak transcription	HSMMtube	muscle
19	chr12:123337800-123346800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:123337800-123347600	Weak transcription	NH-A	brain
21	chr12:123337800-123351600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:123338400-123345200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:123338400-123350400	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr12:123338400-123351000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:123338600-123345000	Weak transcription	Left Ventricle	heart
26	chr12:123338600-123346400	Strong transcription	Fetal Stomach	stomach
27	chr12:123338600-123346800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:123338600-123347000	Strong transcription	Lung	lung
29	chr12:123338600-123347600	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:123338800-123347400	Weak transcription	Right Atrium	heart
31	chr12:123338800-123354200	Strong transcription	Brain Germinal Matrix	brain
32	chr12:123339000-123353200	Weak transcription	K562	blood
33	chr12:123339200-123354200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr12:123339600-123345000	Weak transcription	HMEC	breast
35	chr12:123339600-123354200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr12:123339600-123355000	Strong transcription	Fetal Brain Female	brain
37	chr12:123341000-123348200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr12:123341200-123350800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr12:123341200-123352200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:123341800-123349000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:123342000-123345200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:123342200-123345000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:123342200-123346800	Weak transcription	Fetal Lung	lung
44	chr12:123342200-123347800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:123342200-123350200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:123342400-123345400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:123342400-123347400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:123342400-123348800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:123342600-123345200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr12:123342600-123345400	Weak transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links