Variant report

Variant	rs34601263
Chromosome Location	chr17:46064711-46064712
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46064562..46065076-chr17:46095430..46096223,2	MCF-7	breast:
2	chr17:46063889..46066659-chr17:46081400..46084023,2	MCF-7	breast:
3	chr17:46026185..46026822-chr17:46064552..46065398,2	MCF-7	breast:
4	chr17:46058631..46063478-chr17:46064617..46070061,8	K562	blood:
5	chr17:46028612..46030985-chr17:46062999..46064940,2	MCF-7	breast:
6	chr17:46050120..46053097-chr17:46063923..46066102,2	K562	blood:
7	chr17:46062866..46064807-chr17:46085131..46087334,2	MCF-7	breast:
8	chr17:46059948..46063060-chr17:46063175..46066138,4	MCF-7	breast:
9	chr17:45912193..45915082-chr17:46064625..46066503,2	MCF-7	breast:
10	chr17:46062331..46065308-chr17:46079122..46082112,2	K562	blood:
11	chr17:46047143..46050163-chr17:46062880..46067847,6	MCF-7	breast:
12	chr17:46059865..46061717-chr17:46063064..46066103,3	MCF-7	breast:
13	chr17:46062331..46065040-chr17:46080612..46082593,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108465	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12939977	0.81[AFR][1000 genomes]
rs12941306	1.00[AFR][1000 genomes]
rs12942412	0.96[AFR][1000 genomes]
rs12944699	0.94[AFR][1000 genomes]
rs12945188	0.92[AFR][1000 genomes]
rs12947761	0.81[AFR][1000 genomes]
rs12947966	1.00[AFR][1000 genomes]
rs12948207	1.00[AFR][1000 genomes]
rs34153693	0.88[AFR][1000 genomes]
rs34166016	0.96[AFR][1000 genomes]
rs34358803	1.00[AFR][1000 genomes]
rs34632031	0.94[AFR][1000 genomes]
rs34822864	0.94[AFR][1000 genomes]
rs34958507	1.00[AFR][1000 genomes]
rs35273388	0.94[AFR][1000 genomes]
rs35534834	0.88[AFR][1000 genomes]
rs35551276	0.90[AFR][1000 genomes]
rs35677091	0.92[AFR][1000 genomes]
rs35751035	1.00[AFR][1000 genomes]
rs35766594	1.00[AFR][1000 genomes]
rs35795560	1.00[AFR][1000 genomes]
rs35848720	1.00[AFR][1000 genomes]
rs36059789	1.00[AFR][1000 genomes]
rs36090279	0.94[AFR][1000 genomes]
rs59727791	1.00[AFR][1000 genomes]
rs6503951	0.94[AFR][1000 genomes]
rs71369826	0.88[AFR][1000 genomes]
rs71377331	1.00[AFR][1000 genomes]
rs71377332	1.00[AFR][1000 genomes]
rs71377334	0.94[AFR][1000 genomes]
rs8075711	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46049800-46066600	Weak transcription	Small Intestine	intestine
2	chr17:46059400-46064800	Weak transcription	Colon Smooth Muscle	Colon
3	chr17:46060400-46065200	Weak transcription	Osteobl	bone
4	chr17:46060800-46064800	Weak transcription	Lung	lung
5	chr17:46060800-46064800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr17:46061000-46064800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr17:46061000-46064800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr17:46061000-46065200	Weak transcription	Brain Substantia Nigra	brain
9	chr17:46061200-46064800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr17:46061600-46069200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr17:46061800-46064800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr17:46061800-46065200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr17:46061800-46065400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr17:46061800-46065800	Weak transcription	K562	blood
15	chr17:46061800-46066000	Weak transcription	GM12878-XiMat	blood
16	chr17:46061800-46066600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr17:46061800-46068200	Weak transcription	NHLF	lung
18	chr17:46061800-46079600	Weak transcription	Right Atrium	heart
19	chr17:46062000-46064800	Weak transcription	NH-A	brain
20	chr17:46062000-46065200	Weak transcription	NHEK	skin
21	chr17:46062200-46064800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr17:46062400-46067200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr17:46062800-46064800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr17:46062800-46065000	Weak transcription	Spleen	Spleen
25	chr17:46062800-46066200	Weak transcription	Fetal Thymus	thymus
26	chr17:46063000-46064800	Weak transcription	Thymus	Thymus
27	chr17:46063000-46065000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr17:46063000-46065200	Weak transcription	Brain Hippocampus Middle	brain
29	chr17:46063000-46066600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr17:46063000-46066800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr17:46063000-46068200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr17:46063400-46068600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr17:46063400-46074200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr17:46063600-46065800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr17:46063600-46074600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr17:46063800-46065600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr17:46063800-46065600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr17:46063800-46065600	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr17:46063800-46065600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr17:46063800-46065800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr17:46063800-46068800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr17:46064000-46065200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr17:46064000-46065200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr17:46064000-46065400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr17:46064000-46065400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr17:46064000-46065600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr17:46064000-46065600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr17:46064000-46065600	Enhancers	Fetal Brain Male	brain
49	chr17:46064000-46065800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr17:46064000-46066400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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