Variant report

Variant	rs1047634
Chromosome Location	chr2:97498657-97498658
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: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	chr2:97497342..97499040-chr2:97557166..97559196,2	MCF-7	breast:
2	chr2:97497462..97499468-chr2:97634346..97637151,2	MCF-7	breast:
3	chr17:8076095..8076985-chr2:97498182..97498820,2	Hela-S3	cervix:
4	chr2:97496139..97498847-chr2:97620016..97622064,2	MCF-7	breast:
5	chr2:97497523..97499086-chr2:97616447..97618096,2	K562	blood:
6	chr2:97497689..97500402-chr2:97508351..97511572,3	MCF-7	breast:
7	chr2:97489841..97492213-chr2:97495973..97498924,3	MCF-7	breast:
8	chr2:97498434..97500594-chr2:97616514..97618318,2	MCF-7	breast:
9	chr2:97484548..97487519-chr2:97496116..97499038,3	K562	blood:
10	chr2:97493563..97496873-chr2:97497180..97499123,3	MCF-7	breast:
11	chr2:97497731..97500526-chr2:97610997..97613941,2	MCF-7	breast:
12	chr2:97496087..97499117-chr2:97501128..97507249,8	K562	blood:
13	chr2:97496963..97499893-chr2:97523602..97527866,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168763	Chromatin interaction
ENSG00000213337	Chromatin interaction
ENSG00000200463	Chromatin interaction
ENSG00000168754	Chromatin interaction
ENSG00000163126	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11886360	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11892821	0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1878656	0.82[YRI][hapmap]
rs2314649	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34013660	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs56129857	1.00[EUR][1000 genomes]
rs58448521	1.00[EUR][1000 genomes]
rs6576977	1.00[EUR][1000 genomes]
rs6576985	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6576988	1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6576991	1.00[EUR][1000 genomes]
rs6707008	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6713046	1.00[EUR][1000 genomes]
rs6733826	1.00[EUR][1000 genomes]
rs6744498	1.00[EUR][1000 genomes]
rs6746421	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6748214	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6748234	0.89[ASW][hapmap];0.81[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6759613	1.00[EUR][1000 genomes]
rs72945119	1.00[EUR][1000 genomes]
rs73960684	1.00[EUR][1000 genomes]
rs7565577	0.89[LWK][hapmap];0.88[MKK][hapmap];0.92[YRI][hapmap]
rs7569178	1.00[EUR][1000 genomes]
rs7570831	1.00[EUR][1000 genomes]
rs7580104	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7581456	0.84[LWK][hapmap];0.88[MKK][hapmap];0.92[YRI][hapmap]
rs7587149	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7589082	0.89[LWK][hapmap];0.88[MKK][hapmap];0.92[YRI][hapmap]
rs7593340	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
11	nsv1009720	chr2:97464803-97522856	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv535830	chr2:97464803-97522856	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 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	chr2:97484600-97518400	Weak transcription	HUVEC	blood vessel
2	chr2:97486000-97505000	Strong transcription	Fetal Stomach	stomach
3	chr2:97486800-97500800	Strong transcription	Thymus	Thymus
4	chr2:97487000-97498800	Strong transcription	Primary B cells from peripheral blood	blood
5	chr2:97487200-97501800	Strong transcription	Primary T cells from cord blood	blood
6	chr2:97487200-97504000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:97487400-97499200	Weak transcription	Fetal Brain Male	brain
8	chr2:97487400-97501800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:97487400-97504200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:97487600-97504600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:97488000-97499000	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:97488000-97501200	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr2:97488200-97499200	Strong transcription	Brain Germinal Matrix	brain
14	chr2:97488200-97499600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:97488200-97501200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:97488200-97501800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:97488400-97499200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:97488400-97499400	Strong transcription	Brain Substantia Nigra	brain
19	chr2:97488400-97499600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:97488400-97501200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr2:97488600-97499200	Strong transcription	Aorta	Aorta
22	chr2:97488600-97499400	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:97488600-97501200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr2:97488600-97504600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:97488800-97499400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:97488800-97501600	Strong transcription	Brain Angular Gyrus	brain
27	chr2:97489000-97499000	Strong transcription	Colonic Mucosa	Colon
28	chr2:97489200-97501400	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr2:97489400-97501200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:97489400-97506600	Strong transcription	Dnd41	blood
31	chr2:97489400-97509000	Strong transcription	Brain Cingulate Gyrus	brain
32	chr2:97489600-97499600	Strong transcription	Brain Hippocampus Middle	brain
33	chr2:97489800-97501200	Strong transcription	Fetal Brain Female	brain
34	chr2:97490200-97507800	Strong transcription	Brain Anterior Caudate	brain
35	chr2:97490400-97501800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:97490600-97501200	Strong transcription	HepG2	liver
37	chr2:97490600-97501600	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:97490600-97504000	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr2:97490800-97498800	Strong transcription	Fetal Thymus	thymus
40	chr2:97491600-97499200	Strong transcription	Colon Smooth Muscle	Colon
41	chr2:97491800-97501000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
42	chr2:97492400-97501200	Strong transcription	Primary hematopoietic stem cells	blood
43	chr2:97495000-97499400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr2:97496200-97512400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:97496400-97499000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
46	chr2:97496600-97498800	Weak transcription	K562	blood
47	chr2:97496600-97504200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:97496600-97504200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr2:97496800-97499600	Enhancers	Fetal Heart	heart
50	chr2:97497000-97499200	Genic enhancers	Gastric	stomach

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