Variant report

Variant	rs56294931
Chromosome Location	chr12:123377751-123377752
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr12:123377743-123378250	MCF10A-Er-Src	breast:	n/a	chr12:123378124-123378147
2	NFATC1	chr12:123377703-123378302	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123317720..123322313-chr12:123372173..123377754,7	MCF-7	breast:
2	chr12:123377544..123379506-chr12:123429321..123431444,2	MCF-7	breast:
3	chr12:123358923..123360581-chr12:123375537..123377864,2	MCF-7	breast:
4	chr12:123376693..123378580-chr12:123401920..123404894,2	MCF-7	breast:
5	chr12:123319890..123322592-chr12:123377486..123379203,2	MCF-7	breast:
6	chr12:123343167..123345079-chr12:123376349..123378623,2	MCF-7	breast:
7	chr12:123376817..123378822-chr12:123449521..123451963,2	K562	blood:

No data

Variant related genes	Relation type
VPS37B	TF binding region
ENSG00000130787	Chromatin interaction
ENSG00000150967	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1619142	0.80[EUR][1000 genomes]
rs1671681	0.80[EUR][1000 genomes]
rs1671682	0.80[EUR][1000 genomes]
rs1671683	0.80[EUR][1000 genomes]
rs1696316	0.80[EUR][1000 genomes]
rs1696322	0.80[EUR][1000 genomes]
rs1696325	0.80[EUR][1000 genomes]
rs1798560	0.80[EUR][1000 genomes]
rs1798561	0.80[EUR][1000 genomes]
rs1798565	0.80[EUR][1000 genomes]
rs1798569	0.80[EUR][1000 genomes]
rs2456151	0.80[EUR][1000 genomes]
rs2649899	0.80[EUR][1000 genomes]
rs55650312	0.92[EUR][1000 genomes]
rs55716280	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56260598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59058900	0.84[EUR][1000 genomes]
rs59769449	0.84[EUR][1000 genomes]
rs73415582	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123366200-123379800	Weak transcription	Ovary	ovary
2	chr12:123370400-123379400	Enhancers	Small Intestine	intestine
3	chr12:123370800-123378000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:123371600-123380000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr12:123371800-123378400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr12:123372200-123378400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:123373200-123377800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:123373200-123377800	Enhancers	Fetal Heart	heart
9	chr12:123373200-123378600	Enhancers	Liver	Liver
10	chr12:123373400-123378800	Enhancers	Fetal Muscle Leg	muscle
11	chr12:123373400-123379000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr12:123373600-123378800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:123373800-123378600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr12:123373800-123378600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:123373800-123378600	Enhancers	HUVEC	blood vessel
16	chr12:123373800-123378800	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr12:123373800-123378800	Enhancers	Fetal Thymus	thymus
18	chr12:123373800-123379000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr12:123373800-123379000	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr12:123373800-123379200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:123373800-123379200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr12:123373800-123379600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:123374000-123379000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr12:123374600-123377800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:123374600-123379000	Weak transcription	Gastric	stomach
26	chr12:123375000-123378600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:123375000-123379200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:123375200-123378800	Enhancers	Fetal Intestine Large	intestine
29	chr12:123375400-123378000	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr12:123375400-123378600	Enhancers	Brain Cingulate Gyrus	brain
31	chr12:123375400-123378800	Genic enhancers	Primary B cells from peripheral blood	blood
32	chr12:123375400-123379000	Enhancers	HepG2	liver
33	chr12:123375600-123378000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr12:123375600-123378800	Weak transcription	Thymus	Thymus
35	chr12:123375800-123379000	Enhancers	Psoas Muscle	Psoas
36	chr12:123376200-123379000	Enhancers	Placenta	Placenta
37	chr12:123376200-123379200	Enhancers	Colon Smooth Muscle	Colon
38	chr12:123376200-123379400	Enhancers	Spleen	Spleen
39	chr12:123376600-123378000	Enhancers	Right Atrium	heart
40	chr12:123376600-123378000	Enhancers	Stomach Mucosa	stomach
41	chr12:123376600-123378000	Flanking Active TSS	NHEK	skin
42	chr12:123376600-123378600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr12:123376600-123378600	Weak transcription	Right Ventricle	heart
44	chr12:123376800-123378600	Enhancers	NHLF	lung
45	chr12:123376800-123379400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:123377000-123377800	Enhancers	Duodenum Mucosa	Duodenum
47	chr12:123377000-123377800	Enhancers	Fetal Brain Male	brain
48	chr12:123377000-123377800	Enhancers	Rectal Smooth Muscle	rectum
49	chr12:123377000-123377800	Enhancers	A549	lung
50	chr12:123377000-123377800	Enhancers	K562	blood

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