Variant report

Variant	rs764636
Chromosome Location	chr3:52766697-52766698
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF274	chr3:52766685-52768072	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52766545..52769494-chr3:52804406..52806680,2	K562	blood:
2	chr3:52738889..52741112-chr3:52764320..52766937,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270941	TF binding region
ENSG00000114904	Chromatin interaction
ENSG00000114902	Chromatin interaction
ENSG00000016864	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11510435	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12107484	1.00[EUR][1000 genomes]
rs17052357	1.00[EUR][1000 genomes]
rs17052404	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34173244	1.00[EUR][1000 genomes]
rs4532127	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56134416	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56156188	1.00[EUR][1000 genomes]
rs56276589	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56665533	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57008939	1.00[EUR][1000 genomes]
rs57298447	1.00[EUR][1000 genomes]
rs57757646	1.00[EUR][1000 genomes]
rs57789542	1.00[EUR][1000 genomes]
rs57869735	1.00[EUR][1000 genomes]
rs57946083	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58409398	1.00[EUR][1000 genomes]
rs58528592	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58564212	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59638016	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59869286	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60040519	1.00[EUR][1000 genomes]
rs60058353	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60256157	1.00[EUR][1000 genomes]
rs60311166	1.00[EUR][1000 genomes]
rs60770874	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60830326	1.00[EUR][1000 genomes]
rs61220667	1.00[EUR][1000 genomes]
rs61538294	1.00[EUR][1000 genomes]
rs6445536	1.00[EUR][1000 genomes]
rs6762788	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6769720	1.00[EUR][1000 genomes]
rs6780005	0.87[EUR][1000 genomes]
rs6780397	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72950424	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72950432	1.00[EUR][1000 genomes]
rs72950437	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960212	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960237	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960240	1.00[EUR][1000 genomes]
rs72960260	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960274	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72960281	1.00[EUR][1000 genomes]
rs72960285	1.00[EUR][1000 genomes]
rs72965177	1.00[EUR][1000 genomes]
rs72965181	1.00[EUR][1000 genomes]
rs73839126	1.00[EUR][1000 genomes]
rs73839129	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7645785	1.00[EUR][1000 genomes]
rs7647992	1.00[EUR][1000 genomes]
rs934839	0.83[AMR][1000 genomes];1.00[EUR][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	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv508219	chr3:52741193-52803899	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv834698	chr3:52749983-52928219	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52741600-52804000	Weak transcription	Psoas Muscle	Psoas
2	chr3:52742200-52767200	Weak transcription	Fetal Brain Male	brain
3	chr3:52742200-52768800	Weak transcription	Colon Smooth Muscle	Colon
4	chr3:52742400-52771400	Weak transcription	K562	blood
5	chr3:52742400-52772800	Weak transcription	Pancreas	Pancrea
6	chr3:52744800-52767000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr3:52749000-52771600	Weak transcription	Colonic Mucosa	Colon
8	chr3:52749200-52766800	Weak transcription	Right Ventricle	heart
9	chr3:52749200-52767000	Weak transcription	Fetal Heart	heart
10	chr3:52749200-52767400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:52749200-52779800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:52749400-52776200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:52755800-52767200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr3:52756200-52767400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr3:52756200-52777400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:52756600-52767200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr3:52759600-52768000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:52761200-52770200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:52761600-52781000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:52761600-52802400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:52762000-52770000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:52762000-52787000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr3:52762200-52767200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:52762200-52767600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:52762400-52772200	Weak transcription	Thymus	Thymus
26	chr3:52762600-52776000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr3:52763400-52768600	Strong transcription	Fetal Muscle Leg	muscle
28	chr3:52763400-52770200	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr3:52763600-52767000	Strong transcription	Fetal Stomach	stomach
30	chr3:52763600-52769400	Strong transcription	Fetal Muscle Trunk	muscle
31	chr3:52763800-52766800	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr3:52763800-52768400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
33	chr3:52763800-52769000	Strong transcription	Left Ventricle	heart
34	chr3:52763800-52769200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:52763800-52769600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
36	chr3:52763800-52770200	Strong transcription	Stomach Smooth Muscle	stomach
37	chr3:52763800-52788400	Strong transcription	Fetal Brain Female	brain
38	chr3:52763800-52802600	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr3:52764000-52800200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:52764000-52802800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr3:52764200-52768000	ZNF genes & repeats	Primary B cells from cord blood	blood
42	chr3:52764200-52769800	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr3:52764200-52770000	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr3:52764200-52770200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:52764200-52770200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr3:52764200-52770400	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr3:52764200-52772000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr3:52764200-52774200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr3:52764400-52767000	Strong transcription	Primary T cells from cord blood	blood
50	chr3:52764400-52767200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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