Variant report

Variant	rs2074191
Chromosome Location	chr17:45916725-45916726
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45915913..45917925-chr17:46018896..46020443,2	MCF-7	breast:
2	chr17:45907498..45909861-chr17:45916216..45917789,2	K562	blood:
3	chr17:45915738..45918906-chr17:46047433..46049662,3	K562	blood:
4	chr17:45916146..45920179-chr17:45971137..45974158,6	K562	blood:
5	chr17:45915230..45925590-chr17:45966201..45976437,35	MCF-7	breast:
6	chr17:45915810..45917332-chr17:46018370..46020809,2	K562	blood:
7	chr17:45914566..45916883-chr17:46031350..46033702,2	MCF-7	breast:
8	chr17:45914946..45918155-chr17:45971112..45974378,4	K562	blood:
9	chr17:45897077..45901616-chr17:45914627..45919028,8	MCF-7	breast:
10	chr17:45914114..45922201-chr17:45959661..45964608,11	MCF-7	breast:
11	chr17:45913484..45922782-chr17:45969196..45975741,24	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108439	Chromatin interaction
ENSG00000234494	Chromatin interaction
ENSG00000264920	Chromatin interaction
ENSG00000159111	Chromatin interaction
ENSG00000266821	Chromatin interaction
ENSG00000167182	Chromatin interaction
ENSG00000006025	Chromatin interaction
ENSG00000108465	Chromatin interaction
ENSG00000141294	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1008934	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11079804	0.94[MEX][hapmap]
rs11545723	0.88[MEX][hapmap]
rs11869958	0.80[CHB][hapmap]
rs11870002	0.81[CHB][hapmap]
rs12452082	1.00[MEX][hapmap]
rs12452366	0.80[ASN][1000 genomes]
rs1985407	0.88[CHB][hapmap];0.84[ASN][1000 genomes]
rs2023799	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35598018	0.80[ASN][1000 genomes]
rs4362431	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs4793734	0.88[MEX][hapmap]
rs4794225	0.94[MEX][hapmap]
rs6503871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7220419	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757061	0.85[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8079715	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs878171	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs9674817	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs9904820	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs9907142	1.00[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs991108	0.82[CHD][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap]
rs9914156	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.97[EUR][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	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	nsv908573	chr17:45858487-45956073	Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv908574	chr17:45876022-45930584	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv517880	chr17:45887951-45933341	Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription 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 miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 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	chr17:45909200-45916800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:45909400-45917600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr17:45909600-45917000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:45909600-45917000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr17:45909600-45917200	Weak transcription	Stomach Mucosa	stomach
6	chr17:45909600-45917400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr17:45909600-45917400	Weak transcription	Fetal Kidney	kidney
8	chr17:45909600-45917600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr17:45909600-45917600	Weak transcription	Psoas Muscle	Psoas
10	chr17:45909600-45917600	Weak transcription	Right Atrium	heart
11	chr17:45909800-45917400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr17:45909800-45917400	Weak transcription	Brain Angular Gyrus	brain
13	chr17:45909800-45917400	Weak transcription	Brain Substantia Nigra	brain
14	chr17:45909800-45917400	Weak transcription	Hela-S3	cervix
15	chr17:45910000-45917400	Weak transcription	Primary B cells from cord blood	blood
16	chr17:45910000-45917400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr17:45910000-45917400	Weak transcription	GM12878-XiMat	blood
18	chr17:45912400-45917600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr17:45912600-45916800	Genic enhancers	Placenta	Placenta
20	chr17:45912600-45917000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr17:45912600-45917000	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr17:45912600-45917600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr17:45913000-45916800	Strong transcription	Primary T cells from cord blood	blood
24	chr17:45913000-45916800	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr17:45913000-45917000	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr17:45913000-45917200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr17:45913000-45917400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr17:45913000-45917400	Weak transcription	K562	blood
29	chr17:45913000-45917600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr17:45913200-45916800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr17:45913200-45916800	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr17:45913200-45917200	Strong transcription	Brain Hippocampus Middle	brain
33	chr17:45913200-45917600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr17:45913400-45916800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr17:45913400-45916800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr17:45913400-45916800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr17:45913400-45916800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr17:45913400-45917400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr17:45913600-45916800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr17:45913600-45917800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr17:45913800-45917600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr17:45914000-45917400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr17:45914000-45917400	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr17:45914000-45917800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr17:45914400-45916800	Genic enhancers	Fetal Intestine Large	intestine
46	chr17:45914400-45917000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr17:45914400-45917600	Weak transcription	A549	lung
48	chr17:45914600-45917000	Genic enhancers	Fetal Intestine Small	intestine
49	chr17:45914600-45917600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr17:45914600-45917600	Genic enhancers	Fetal Muscle Leg	muscle

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