Variant report

Variant	rs34669312
Chromosome Location	chr4:122724053-122724054
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:122719927..122724442-chr4:122741540..122746604,11	MCF-7	breast:
2	chr4:122722789..122724421-chr4:122743647..122745561,2	MCF-7	breast:
3	chr4:122720772..122725008-chr4:122725244..122729002,8	K562	blood:

Variant related genes	Relation type
ENSG00000145386	Chromatin interaction
ENSG00000123737	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11933339	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11934168	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1507987	0.83[AMR][1000 genomes]
rs1507988	0.83[AMR][1000 genomes]
rs17005269	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17005276	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2661556	0.83[AMR][1000 genomes]
rs2706797	0.83[AMR][1000 genomes]
rs3217770	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3811743	0.83[AMR][1000 genomes]
rs4001033	0.83[AMR][1000 genomes]
rs4132552	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61639241	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72915930	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72915936	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72915942	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72915943	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72915957	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72915958	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917987	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917996	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72918000	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919903	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919909	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs769235	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs769240	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122723000-122724800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:122723000-122725800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:122723000-122726200	Weak transcription	Spleen	Spleen
4	chr4:122723000-122729600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:122723000-122733400	Weak transcription	Pancreas	Pancrea
6	chr4:122723000-122743600	Weak transcription	Esophagus	oesophagus
7	chr4:122723000-122743600	Weak transcription	Small Intestine	intestine
8	chr4:122723000-122744200	Weak transcription	Gastric	stomach
9	chr4:122723000-122744600	Weak transcription	Aorta	Aorta
10	chr4:122723200-122724200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr4:122723200-122724600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:122723200-122724600	Weak transcription	Fetal Intestine Small	intestine
13	chr4:122723200-122724600	Weak transcription	Lung	lung
14	chr4:122723200-122725200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:122723200-122725200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr4:122723200-122725400	Weak transcription	Brain Angular Gyrus	brain
17	chr4:122723200-122725800	Weak transcription	Brain Substantia Nigra	brain
18	chr4:122723200-122729200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:122723200-122731400	Weak transcription	Right Ventricle	heart
20	chr4:122723200-122737000	Weak transcription	Colonic Mucosa	Colon
21	chr4:122723200-122741800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr4:122723200-122743400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:122723200-122743600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:122723200-122743800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:122723400-122724200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr4:122723400-122724400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr4:122723400-122724800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr4:122723400-122724800	Weak transcription	Fetal Stomach	stomach
29	chr4:122723400-122725000	Transcr. at gene 5' and 3'	Dnd41	blood
30	chr4:122723400-122725400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:122723400-122727200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:122723400-122729400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr4:122723400-122744200	Weak transcription	Stomach Mucosa	stomach
34	chr4:122723600-122724200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:122723600-122724200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:122723600-122724200	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr4:122723600-122724200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:122723600-122724200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr4:122723600-122724200	Enhancers	Fetal Heart	heart
40	chr4:122723600-122724200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr4:122723600-122724200	Weak transcription	Thymus	Thymus
42	chr4:122723600-122724200	Genic enhancers	HSMM	muscle
43	chr4:122723600-122724400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:122723600-122724400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr4:122723600-122724400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr4:122723600-122724400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr4:122723600-122724400	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr4:122723600-122724400	Enhancers	HepG2	liver
49	chr4:122723600-122724600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr4:122723600-122724800	Weak transcription	Colon Smooth Muscle	Colon

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