Variant report

Variant	rs59268194
Chromosome Location	chr4:122720239-122720240
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:122719927..122724442-chr4:122741540..122746604,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145386	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1051881	0.91[ASN][1000 genomes]
rs17005251	0.81[AFR][1000 genomes]
rs1803183	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3217767	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4077754	1.00[ASN][1000 genomes]
rs55685419	1.00[ASN][1000 genomes]
rs55803709	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55936221	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56030020	1.00[ASN][1000 genomes]
rs56221685	1.00[ASN][1000 genomes]
rs56300111	1.00[ASN][1000 genomes]
rs57779372	1.00[ASN][1000 genomes]
rs58745264	1.00[ASN][1000 genomes]
rs58921436	0.90[ASN][1000 genomes]
rs60240575	1.00[ASN][1000 genomes]
rs61180375	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61434837	0.91[ASN][1000 genomes]
rs61665948	1.00[ASN][1000 genomes]
rs6823340	1.00[ASN][1000 genomes]
rs6825926	1.00[ASN][1000 genomes]
rs6830453	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6836544	1.00[ASN][1000 genomes]
rs6854295	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6858061	1.00[ASN][1000 genomes]
rs73844293	1.00[ASN][1000 genomes]
rs73844294	1.00[ASN][1000 genomes]
rs73844297	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73844298	1.00[ASN][1000 genomes]
rs73847203	1.00[ASN][1000 genomes]
rs73847204	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73847205	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73847206	1.00[ASN][1000 genomes]
rs7684547	0.83[ASN][1000 genomes]
rs769243	1.00[ASN][1000 genomes]
rs7694815	1.00[ASN][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	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
4	nsv461635	chr4:122633535-122720999	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv595357	chr4:122633535-122720999	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122711800-122721800	Weak transcription	Fetal Stomach	stomach
2	chr4:122711800-122721800	Weak transcription	HMEC	breast
3	chr4:122712200-122720800	Weak transcription	Fetal Intestine Large	intestine
4	chr4:122712200-122721600	Weak transcription	A549	lung
5	chr4:122713200-122721000	Weak transcription	HSMMtube	muscle
6	chr4:122714600-122721800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:122715600-122721800	Enhancers	Fetal Thymus	thymus
8	chr4:122716200-122720400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:122716200-122721000	Weak transcription	Fetal Heart	heart
10	chr4:122716200-122721800	Weak transcription	Osteobl	bone
11	chr4:122716800-122721600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr4:122717000-122721800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:122717200-122720400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr4:122717400-122720600	Weak transcription	K562	blood
15	chr4:122717400-122721800	Weak transcription	NHEK	skin
16	chr4:122717600-122720600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:122717600-122720600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr4:122717600-122720600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr4:122717600-122720600	Weak transcription	HSMM	muscle
20	chr4:122717600-122720600	Weak transcription	NHDF-Ad	bronchial
21	chr4:122717600-122721600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:122717600-122721800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:122717600-122721800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:122717600-122721800	Weak transcription	Fetal Lung	lung
25	chr4:122717600-122721800	Weak transcription	NH-A	brain
26	chr4:122717600-122721800	Weak transcription	NHLF	lung
27	chr4:122717600-122722000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:122717800-122721600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr4:122717800-122721800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr4:122717800-122721800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr4:122717800-122721800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:122717800-122721800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:122717800-122721800	Weak transcription	HUVEC	blood vessel
34	chr4:122718000-122720400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr4:122718000-122721800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:122718000-122721800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:122718200-122721800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:122718200-122721800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr4:122718200-122721800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr4:122718200-122721800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr4:122718200-122721800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr4:122718200-122721800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr4:122719400-122721200	Enhancers	Thymus	Thymus
44	chr4:122719400-122721600	Enhancers	Dnd41	blood
45	chr4:122719600-122720600	Enhancers	GM12878-XiMat	blood
46	chr4:122719800-122720400	Enhancers	HepG2	liver
47	chr4:122720000-122721600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr4:122720200-122720400	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr4:122720200-122721000	Weak transcription	Fetal Intestine Small	intestine
50	chr4:122720200-122721200	Enhancers	Primary T helper cells fromperipheralblood	blood

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