Variant report

Variant	rs34358803
Chromosome Location	chr17:46050854-46050855
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:46050502-46050978	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45916805..45918645-chr17:46049307..46052220,2	MCF-7	breast:
2	chr17:46046297..46048098-chr17:46050701..46053030,2	MCF-7	breast:
3	chr17:46048432..46050374-chr17:46050535..46053358,3	MCF-7	breast:
4	chr17:46017765..46021634-chr17:46045854..46051133,6	MCF-7	breast:
5	chr17:45971266..45974117-chr17:46049059..46051074,2	MCF-7	breast:
6	chr17:46023026..46029175-chr17:46044937..46051234,10	K562	blood:
7	chr17:46047245..46051740-chr17:46053378..46057507,6	MCF-7	breast:
8	chr17:46048621..46053225-chr17:46056317..46060413,5	K562	blood:
9	chr17:46047439..46051573-chr17:46055956..46059590,5	MCF-7	breast:

No data

Variant related genes	Relation type
CDK5RAP3	TF binding region
ENSG00000264019	Chromatin interaction
ENSG00000167182	Chromatin interaction
ENSG00000108439	Chromatin interaction
ENSG00000108465	Chromatin interaction
ENSG00000264920	Chromatin interaction
ENSG00000141295	Chromatin interaction
ENSG00000234494	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs12939977	0.81[AFR][1000 genomes]
rs12941306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12942412	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12944699	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12945188	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12945362	1.00[AMR][1000 genomes]
rs12945768	1.00[AMR][1000 genomes]
rs12947761	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12947966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12948207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16952687	1.00[AMR][1000 genomes]
rs34033530	1.00[AMR][1000 genomes]
rs34038169	1.00[AMR][1000 genomes]
rs34153693	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34166016	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34601263	1.00[AFR][1000 genomes]
rs34632031	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34822864	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34958507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35177469	1.00[AMR][1000 genomes]
rs35273388	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35350665	1.00[AMR][1000 genomes]
rs35534834	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35551276	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35647888	1.00[AMR][1000 genomes]
rs35677091	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35711165	1.00[AMR][1000 genomes]
rs35751035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35766594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35778085	1.00[AMR][1000 genomes]
rs35795560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35848720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35928933	1.00[AMR][1000 genomes]
rs36059789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36090279	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56078988	1.00[AMR][1000 genomes]
rs56363348	1.00[AMR][1000 genomes]
rs57864674	1.00[AMR][1000 genomes]
rs57948485	1.00[AMR][1000 genomes]
rs58974249	1.00[AMR][1000 genomes]
rs59483607	1.00[AMR][1000 genomes]
rs59727791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60224300	1.00[AMR][1000 genomes]
rs60525548	1.00[AMR][1000 genomes]
rs6503951	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71369826	0.88[AFR][1000 genomes]
rs71377331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71377332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71377334	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71377338	1.00[AMR][1000 genomes]
rs71377341	1.00[AMR][1000 genomes]
rs71377342	1.00[AMR][1000 genomes]
rs73985416	1.00[AMR][1000 genomes]
rs73985417	1.00[AMR][1000 genomes]
rs73985418	1.00[AMR][1000 genomes]
rs73985419	1.00[AMR][1000 genomes]
rs73985421	1.00[AMR][1000 genomes]
rs73985422	1.00[AMR][1000 genomes]
rs73985424	1.00[AMR][1000 genomes]
rs73985479	1.00[AMR][1000 genomes]
rs8075711	0.90[AFR][1000 genomes];1.00[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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46049000-46051000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr17:46049000-46051200	Weak transcription	Aorta	Aorta
3	chr17:46049000-46051600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:46049000-46052200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:46049000-46055200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr17:46049000-46056000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr17:46049200-46051000	Weak transcription	Left Ventricle	heart
8	chr17:46049200-46051200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr17:46049200-46051200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr17:46049200-46051400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr17:46049200-46051600	Weak transcription	Fetal Kidney	kidney
12	chr17:46049400-46051000	Weak transcription	Esophagus	oesophagus
13	chr17:46049400-46051000	Weak transcription	Placenta	Placenta
14	chr17:46049400-46051000	Enhancers	Fetal Thymus	thymus
15	chr17:46049400-46051200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr17:46049400-46052800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr17:46049600-46051000	Weak transcription	Primary B cells from cord blood	blood
18	chr17:46049600-46051000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr17:46049600-46051000	Weak transcription	Brain Germinal Matrix	brain
20	chr17:46049600-46051200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr17:46049600-46051200	Weak transcription	HSMMtube	muscle
22	chr17:46049600-46051400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr17:46049600-46051400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr17:46049600-46052800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr17:46049600-46056200	Weak transcription	Psoas Muscle	Psoas
26	chr17:46049600-46059600	Weak transcription	Fetal Heart	heart
27	chr17:46049800-46051000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:46049800-46051000	Weak transcription	Primary T cells from cord blood	blood
29	chr17:46049800-46051000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr17:46049800-46051000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr17:46049800-46051000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr17:46049800-46051000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr17:46049800-46051200	Weak transcription	HUVEC	blood vessel
34	chr17:46049800-46051400	Weak transcription	Fetal Lung	lung
35	chr17:46049800-46051600	Weak transcription	Colon Smooth Muscle	Colon
36	chr17:46049800-46052200	Weak transcription	NH-A	brain
37	chr17:46049800-46058200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr17:46049800-46066600	Weak transcription	Small Intestine	intestine
39	chr17:46050000-46051000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr17:46050000-46051000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr17:46050000-46051200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr17:46050000-46051200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr17:46050000-46051200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr17:46050000-46051200	Weak transcription	Colonic Mucosa	Colon
45	chr17:46050000-46051200	Weak transcription	Fetal Brain Female	brain
46	chr17:46050000-46051200	Weak transcription	Stomach Mucosa	stomach
47	chr17:46050000-46051600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr17:46050000-46051600	Weak transcription	Right Ventricle	heart
49	chr17:46050000-46053000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr17:46050000-46054800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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