Variant report

Variant	rs3211605
Chromosome Location	chr12:58147101-58147102
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr12:58146774-58147101	SH-SY5Y	brain:	n/a	n/a
2	POLR2A	chr12:58144145-58147295	HepG2	liver:	n/a	n/a
3	MXI1	chr12:58144329-58147210	SK-N-SH	brain:	n/a	chr12:58146430-58146445 chr12:58146432-58146447 chr12:58146283-58146292
4	CUX1	chr12:58146487-58147273	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57080844..57082659-chr12:58144695..58147272,2	K562	blood:
2	chr12:57853636..57856322-chr12:58144624..58147677,3	K562	blood:
3	chr12:58003234..58004876-chr12:58145695..58148256,2	K562	blood:
4	chr12:57914860..57917603-chr12:58144909..58148802,3	K562	blood:
5	chr12:57480031..57482599-chr12:58144777..58147375,2	MCF-7	breast:
6	chr12:58146971..58149952-chr17:56735164..56736689,2	MCF-7	breast:
7	chr12:58013150..58015350-chr12:58146267..58147778,2	K562	blood:
8	chr12:57912818..57918945-chr12:58145879..58149998,6	MCF-7	breast:
9	chr12:58144944..58148202-chr12:58236897..58241575,4	MCF-7	breast:
10	chr12:58146595..58149356-chr12:58175469..58178051,2	K562	blood:
11	chr12:58144058..58148099-chr12:58238749..58241436,3	K562	blood:
12	chr12:57909291..57914221-chr12:58144639..58148673,6	K562	blood:
13	chr12:57915553..57917499-chr12:58144787..58147876,3	K562	blood:

No data

Variant related genes	Relation type
MARCH9	TF binding region
CDK4	TF binding region
ENSG00000175215	Chromatin interaction
ENSG00000135502	Chromatin interaction
ENSG00000111087	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000224713	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000110958	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000123297	Chromatin interaction
ENSG00000240771	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12304123	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs238527	1.00[ASN][1000 genomes]
rs3211607	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3211614	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36227551	0.81[AFR][1000 genomes]
rs4760321	1.00[EUR][1000 genomes]
rs4760322	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307835	1.00[EUR][1000 genomes]
rs73338229	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73338231	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8176339	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176346	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv899121	chr12:58079825-58177292	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv559045	chr12:58112189-58165085	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv470296	chr12:58112189-58177292	Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	nsv899123	chr12:58118248-58155023	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv826384	chr12:58124758-58157850	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv510601	chr12:58130298-58191925	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
9	nsv470297	chr12:58133256-58202419	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
10	nsv826386	chr12:58135303-58150535	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58146200-58147800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:58146200-58148000	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr12:58146200-58148000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:58146200-58148200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:58146200-58148200	Weak transcription	Lung	lung
6	chr12:58146200-58148400	Weak transcription	Small Intestine	intestine
7	chr12:58146200-58148600	Weak transcription	Aorta	Aorta
8	chr12:58146400-58147200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:58146400-58148200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr12:58146400-58148800	Flanking Active TSS	K562	blood
11	chr12:58146600-58148200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr12:58146600-58148200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:58146600-58148200	Weak transcription	Esophagus	oesophagus
14	chr12:58146600-58148200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr12:58146600-58148200	Weak transcription	Gastric	stomach
16	chr12:58146600-58148200	Weak transcription	Left Ventricle	heart
17	chr12:58146600-58148200	Weak transcription	Spleen	Spleen
18	chr12:58146600-58148400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:58146600-58148400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:58146800-58147200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr12:58146800-58147200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
22	chr12:58146800-58147200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:58146800-58147200	Enhancers	Duodenum Mucosa	Duodenum
24	chr12:58146800-58147200	Enhancers	Placenta	Placenta
25	chr12:58146800-58147400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:58146800-58147600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:58146800-58147600	Enhancers	Fetal Muscle Leg	muscle
28	chr12:58146800-58147800	Enhancers	Primary hematopoietic stem cells	blood
29	chr12:58146800-58147800	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr12:58146800-58147800	Weak transcription	Right Ventricle	heart
31	chr12:58146800-58148000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:58146800-58148000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
33	chr12:58146800-58148000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr12:58146800-58148000	Enhancers	Primary T cells from cord blood	blood
35	chr12:58146800-58148000	Enhancers	Hela-S3	cervix
36	chr12:58146800-58148200	Enhancers	Primary B cells from cord blood	blood
37	chr12:58146800-58148200	Enhancers	Primary B cells from peripheral blood	blood
38	chr12:58146800-58148200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr12:58146800-58148200	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr12:58146800-58148200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:58146800-58148200	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr12:58146800-58148200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr12:58146800-58148200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:58146800-58148200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:58146800-58148200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:58146800-58148200	Weak transcription	Brain Substantia Nigra	brain
47	chr12:58146800-58148200	Weak transcription	Colonic Mucosa	Colon
48	chr12:58146800-58148200	Enhancers	Fetal Intestine Large	intestine
49	chr12:58146800-58148200	Enhancers	Fetal Stomach	stomach
50	chr12:58146800-58148200	Enhancers	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links