Variant report

Variant	rs7306948
Chromosome Location	chr12:123345347-123345348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:123344411-123345597	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr12:123344832-123345450	Hela-S3	cervix:	n/a	n/a
3	RAD21	chr12:123344537-123345365	HCT-116	colon:	n/a	chr12:123345095-123345105
4	POLR2A	chr12:123344450-123350810	PANC-1	pancreas:	n/a	n/a
5	CTCF	chr12:123345234-123345369	NHEK	skin:	n/a	n/a
6	CHD1	chr12:123344283-123345350	IMR90	lung:	n/a	n/a
7	POLR2A	chr12:123344363-123348488	PANC-1	pancreas:	n/a	n/a
8	CTCF	chr12:123345300-123345450	GM12868	blood:	n/a	n/a
9	POLR2A	chr12:123345318-123345729	K562	blood:	n/a	n/a
10	POLR2A	chr12:123345262-123346502	GM12891	blood:	n/a	n/a
11	POLR2A	chr12:123344375-123345695	K562	blood:	n/a	n/a
12	RAD21	chr12:123344681-123345384	H1-hESC	embryonic stem cell:	n/a	chr12:123345095-123345105
13	POLR2A	chr12:123344739-123345364	HUVEC	blood vessel:	n/a	n/a
14	SMC3	chr12:123344429-123345526	SK-N-SH	brain:	n/a	chr12:123344663-123344670
15	RAD21	chr12:123344725-123345378	HepG2	liver:	n/a	chr12:123345095-123345105
16	SIN3AK20	chr12:123344812-123346060	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr12:123343571-123345723	H1-neurons	neurons:	n/a	n/a
18	STAT5A	chr12:123345090-123345390	GM12878	blood:	n/a	n/a
19	POLR2A	chr12:123344788-123345433	MCF-7	breast:	n/a	n/a
20	HMGN3	chr12:123344677-123345481	K562	blood:	n/a	n/a
21	MTA3	chr12:123344714-123345442	GM12878	blood:	n/a	n/a
22	POLR2A	chr12:123344139-123350814	SK-N-MC	brain:	n/a	n/a
23	CTCF	chr12:123345220-123345370	GM12870	blood:	n/a	n/a
24	POLR2A	chr12:123344788-123345604	HCT-116	colon:	n/a	n/a
25	RAD21	chr12:123344537-123345491	SK-N-SH	brain:	n/a	chr12:123345095-123345105 chr12:123345413-123345426
26	MXI1	chr12:123344715-123345615	IMR90	lung:	n/a	n/a
27	CTCF	chr12:123345263-123345350	GM19239	blood:	n/a	n/a
28	CTCF	chr12:123344267-123345706	A549	lung:	n/a	n/a
29	POLR2A	chr12:123344723-123346511	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr12:123344805-123345548	H1-neurons	neurons:	n/a	n/a
31	CTCF	chr12:123344513-123345361	HCT-116	colon:	n/a	n/a
32	CTCF	chr12:123345288-123345357	LNCaP	prostate:	n/a	n/a
33	RAD21	chr12:123344388-123345403	HCT-116	colon:	n/a	chr12:123345095-123345105

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	chr12:123344929..123347895-chr12:123458197..123461633,3	MCF-7	breast:
4	chr12:123344910..123345440-chr12:123436821..123437509,2	HCT-116	colon:
5	chr12:123318351..123322726-chr12:123344658..123350717,8	MCF-7	breast:
6	chr12:123344301..123346489-chr12:123716077..123720315,3	K562	blood:
7	chr12:123345343..123346928-chr12:123463907..123466458,2	MCF-7	breast:
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
ENSG00000130921	Chromatin interaction
ENSG00000182196	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000130787	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000111325	Chromatin interaction
ENSG00000256028	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1026395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1037593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10744394	0.88[EUR][1000 genomes]
rs10744439	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10773599	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10847742	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10847749	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10847751	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10847775	1.00[JPT][hapmap]
rs10847910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10848148	1.00[JPT][hapmap]
rs10848363	1.00[JPT][hapmap]
rs10848365	1.00[JPT][hapmap]
rs11059729	0.85[CEU][hapmap]
rs11060152	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11060211	0.92[EUR][1000 genomes]
rs11060932	1.00[JPT][hapmap]
rs11060999	1.00[JPT][hapmap]
rs12311043	1.00[JPT][hapmap]
rs1260121	1.00[JPT][hapmap]
rs1671684	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.92[EUR][1000 genomes]
rs1671686	0.92[EUR][1000 genomes]
rs1671687	1.00[JPT][hapmap]
rs1696327	0.92[EUR][1000 genomes]
rs1798563	1.00[JPT][hapmap]
rs1975761	1.00[JPT][hapmap]
rs2061099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2271048	1.00[EUR][1000 genomes]
rs2343107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2649895	1.00[JPT][hapmap]
rs2649896	1.00[JPT][hapmap]
rs2649903	1.00[JPT][hapmap]
rs2649904	0.92[EUR][1000 genomes]
rs2656812	1.00[JPT][hapmap]
rs3844369	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4307760	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4759351	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4759352	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4759353	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs4759354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4759384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4759388	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4759438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs651683	1.00[JPT][hapmap]
rs7138257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7298176	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7306047	0.86[CEU][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7485652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7957643	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7958155	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs839354	1.00[JPT][hapmap]
rs897384	0.96[EUR][1000 genomes]
rs897388	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs937765	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs967281	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9795629	1.00[CHB][hapmap];1.00[JPT][hapmap]

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:118 , 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	chr12:123327400-123352600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:123327600-123353400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:123329200-123355000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:123330400-123349200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:123332600-123355600	Strong transcription	Thymus	Thymus
10	chr12:123335200-123347000	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:123337200-123348800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:123337400-123348400	Weak transcription	HSMM	muscle
13	chr12:123337400-123356200	Weak transcription	Fetal Kidney	kidney
14	chr12:123337600-123348200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:123337600-123351000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:123337600-123351400	Weak transcription	HSMMtube	muscle
17	chr12:123337800-123346800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:123337800-123347600	Weak transcription	NH-A	brain
19	chr12:123337800-123351600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:123338400-123350400	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr12:123338400-123351000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:123338600-123346400	Strong transcription	Fetal Stomach	stomach
23	chr12:123338600-123346800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:123338600-123347000	Strong transcription	Lung	lung
25	chr12:123338600-123347600	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:123338800-123347400	Weak transcription	Right Atrium	heart
27	chr12:123338800-123354200	Strong transcription	Brain Germinal Matrix	brain
28	chr12:123339000-123353200	Weak transcription	K562	blood
29	chr12:123339200-123354200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr12:123339600-123354200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:123339600-123355000	Strong transcription	Fetal Brain Female	brain
32	chr12:123341000-123348200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr12:123341200-123350800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr12:123341200-123352200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:123341800-123349000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr12:123342200-123346800	Weak transcription	Fetal Lung	lung
37	chr12:123342200-123347800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr12:123342200-123350200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:123342400-123345400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:123342400-123347400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:123342400-123348800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:123342600-123345400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr12:123342600-123346000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:123343000-123346000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:123343000-123346600	Weak transcription	Ovary	ovary
46	chr12:123343200-123346000	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:123343400-123346000	Weak transcription	Primary B cells from cord blood	blood
48	chr12:123344000-123345600	Genic enhancers	Brain Cingulate Gyrus	brain
49	chr12:123344000-123346400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr12:123344000-123349200	Strong transcription	Primary T cells from cord blood	blood

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