Variant report

Variant	rs59323263
Chromosome Location	chr4:122717318-122717319
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:122713231..122718740-chr4:122718856..122724586,12	K562	blood:
2	chr4:122711885..122714299-chr4:122714317..122717336,4	K562	blood:

Variant related genes	Relation type
ENSG00000123737	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12644087	1.00[AMR][1000 genomes]
rs3217760	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3217782	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3805159	1.00[AMR][1000 genomes]
rs4077755	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41462746	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4256243	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57880593	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58062096	1.00[AMR][1000 genomes]
rs59971648	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60712265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61097039	1.00[AMR][1000 genomes]
rs61300303	1.00[AMR][1000 genomes]
rs72919937	1.00[AMR][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:50 , 50 per page) page: 1

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	chr4:122715600-122717600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:122715600-122717600	Enhancers	Thymus	Thymus
9	chr4:122715600-122717600	Enhancers	HSMM	muscle
10	chr4:122715600-122717800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:122715600-122717800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr4:122715600-122718200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr4:122715600-122721800	Enhancers	Fetal Thymus	thymus
14	chr4:122715800-122717600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:122715800-122717800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:122715800-122718200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr4:122716000-122717600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:122716000-122717800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr4:122716000-122718200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr4:122716200-122720400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:122716200-122721000	Weak transcription	Fetal Heart	heart
22	chr4:122716200-122721800	Weak transcription	Osteobl	bone
23	chr4:122716400-122717400	Enhancers	K562	blood
24	chr4:122716600-122717600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:122716600-122717600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr4:122716600-122717600	Flanking Active TSS	Dnd41	blood
27	chr4:122716600-122717800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:122716600-122717800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr4:122716600-122718000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:122716800-122717400	Enhancers	NHEK	skin
31	chr4:122716800-122717600	Enhancers	Fetal Lung	lung
32	chr4:122716800-122717600	Enhancers	NHDF-Ad	bronchial
33	chr4:122716800-122718000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr4:122716800-122721600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr4:122717000-122717600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr4:122717000-122717600	Enhancers	NH-A	brain
37	chr4:122717000-122717600	Enhancers	NHLF	lung
38	chr4:122717000-122717800	Flanking Active TSS	GM12878-XiMat	blood
39	chr4:122717000-122717800	Enhancers	HepG2	liver
40	chr4:122717000-122717800	Enhancers	HUVEC	blood vessel
41	chr4:122717000-122718000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:122717000-122721800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr4:122717200-122717400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr4:122717200-122717400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:122717200-122717600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:122717200-122717600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:122717200-122717800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:122717200-122718200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr4:122717200-122720200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr4:122717200-122720400	Weak transcription	Primary T cells fromperipheralblood	blood

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