Variant report

Variant	rs34456044
Chromosome Location	chr17:38643842-38643843
allele	C/T
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38642574..38644263-chr17:38714423..38716746,2	K562	blood:
2	chr17:38640900..38643857-chr17:38669358..38670867,2	MCF-7	breast:
3	chr17:38642763..38644324-chr17:38714423..38717219,2	K562	blood:
4	chr17:38641568..38644220-chr17:38656401..38660541,4	MCF-7	breast:
5	chr17:38643110..38644639-chr17:38644908..38646867,2	MCF-7	breast:
6	chr17:38640893..38644463-chr17:38672113..38675330,4	MCF-7	breast:
7	chr17:38641070..38642777-chr17:38643354..38644884,2	K562	blood:
8	chr17:38640863..38643911-chr17:38644729..38647819,3	MCF-7	breast:
9	chr17:38597960..38600391-chr17:38643714..38646429,2	MCF-7	breast:
10	chr17:38642999..38645925-chr17:38647445..38650025,2	K562	blood:
11	chr17:38640983..38649598-chr17:38652430..38659338,11	MCF-7	breast:
12	chr17:38643054..38644856-chr17:38668442..38670068,2	MCF-7	breast:
13	chr17:38642192..38648064-chr17:38648142..38651157,5	K562	blood:
14	chr17:38634038..38637576-chr17:38640830..38643969,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000131746	Chromatin interaction
ENSG00000141753	Chromatin interaction
ENSG00000266088	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12942610	0.85[ASN][1000 genomes]
rs1901187	1.00[ASN][1000 genomes]
rs2290206	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2290207	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34377860	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34453034	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34879399	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35260012	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764424	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7214311	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8081819	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9303289	0.98[ASN][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	nsv1058185	chr17:38629339-38689908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv908224	chr17:38638251-38651447	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38627400-38646200	Weak transcription	Gastric	stomach
2	chr17:38636000-38647000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr17:38636000-38648200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr17:38636000-38649600	Genic enhancers	HMEC	breast
5	chr17:38637000-38644800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr17:38637400-38645600	Weak transcription	Spleen	Spleen
7	chr17:38637400-38648200	Genic enhancers	NHEK	skin
8	chr17:38638200-38646400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr17:38638600-38646200	Weak transcription	Colonic Mucosa	Colon
10	chr17:38638800-38646000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr17:38639200-38645000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr17:38639200-38645000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr17:38639200-38645400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr17:38639200-38645400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr17:38639400-38644400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr17:38639400-38645400	Weak transcription	Primary B cells from cord blood	blood
17	chr17:38639600-38644200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr17:38639800-38644200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr17:38640800-38644400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr17:38640800-38646400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr17:38641000-38645400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr17:38641000-38646600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr17:38641000-38648800	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr17:38641200-38644200	Transcr. at gene 5' and 3'	A549	lung
25	chr17:38641200-38646200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr17:38641200-38646400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr17:38641400-38646200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:38642000-38645200	Genic enhancers	Placenta	Placenta
29	chr17:38642000-38647000	Enhancers	Colon Smooth Muscle	Colon
30	chr17:38642000-38647800	Enhancers	Fetal Stomach	stomach
31	chr17:38642000-38654400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr17:38642400-38644400	Enhancers	NHDF-Ad	bronchial
33	chr17:38642600-38644000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr17:38642600-38644400	Enhancers	Lung	lung
35	chr17:38642600-38644400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr17:38642600-38644600	Enhancers	Rectal Smooth Muscle	rectum
37	chr17:38642800-38644200	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr17:38642800-38644400	Enhancers	Dnd41	blood
39	chr17:38642800-38644400	Enhancers	HSMM	muscle
40	chr17:38642800-38644400	Enhancers	HSMMtube	muscle
41	chr17:38642800-38644400	Enhancers	NHLF	lung
42	chr17:38642800-38645000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr17:38642800-38645400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr17:38642800-38645600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr17:38642800-38646000	Enhancers	Primary T cells from cord blood	blood
46	chr17:38642800-38646600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr17:38643000-38644000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr17:38643000-38644000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr17:38643000-38645800	Genic enhancers	Esophagus	oesophagus
50	chr17:38643000-38647000	Weak transcription	Fetal Kidney	kidney

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