Variant report

Variant	rs9973492
Chromosome Location	chr2:97498481-97498482
allele	A/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: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10203346	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10439526	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11889085	0.83[ASN][1000 genomes]
rs11897786	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs12172	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1317911	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs1320146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1320149	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs13419073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119562	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17119564	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17119591	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs17119598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2314399	0.83[ASN][1000 genomes]
rs3731941	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4077343	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56797569	0.83[ASN][1000 genomes]
rs56913233	0.83[ASN][1000 genomes]
rs57582887	0.83[ASN][1000 genomes]
rs58147284	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59244622	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152765	0.83[ASN][1000 genomes]
rs62152766	0.83[ASN][1000 genomes]
rs62152767	0.83[ASN][1000 genomes]
rs62152768	0.83[ASN][1000 genomes]
rs62152770	0.83[ASN][1000 genomes]
rs62152771	0.83[ASN][1000 genomes]
rs62152772	0.83[ASN][1000 genomes]
rs62152773	0.83[ASN][1000 genomes]
rs62152774	0.83[ASN][1000 genomes]
rs62152775	0.83[ASN][1000 genomes]
rs62152777	0.88[ASN][1000 genomes]
rs62152783	0.88[ASN][1000 genomes]
rs62152784	0.82[ASN][1000 genomes]
rs62152785	0.88[ASN][1000 genomes]
rs62152786	0.86[ASN][1000 genomes]
rs62152787	0.88[ASN][1000 genomes]
rs62152788	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62152790	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152793	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152794	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152834	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152860	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62152863	0.93[EUR][1000 genomes]
rs62152864	0.93[EUR][1000 genomes]
rs62156208	0.83[ASN][1000 genomes]
rs62156209	0.83[ASN][1000 genomes]
rs62156210	0.83[ASN][1000 genomes]
rs62156211	0.83[ASN][1000 genomes]
rs62156212	0.83[ASN][1000 genomes]
rs62156213	0.83[ASN][1000 genomes]
rs62156216	0.83[ASN][1000 genomes]
rs62156219	0.83[ASN][1000 genomes]
rs62156220	0.83[ASN][1000 genomes]
rs62156221	0.83[ASN][1000 genomes]
rs62156222	0.83[ASN][1000 genomes]
rs62156223	0.83[ASN][1000 genomes]
rs62156225	0.83[ASN][1000 genomes]
rs62156226	0.83[ASN][1000 genomes]
rs62156227	0.83[ASN][1000 genomes]
rs62156228	0.83[ASN][1000 genomes]
rs62156230	0.83[ASN][1000 genomes]
rs62156231	0.83[ASN][1000 genomes]
rs62156232	0.83[ASN][1000 genomes]
rs62156233	0.83[ASN][1000 genomes]
rs62156234	0.83[ASN][1000 genomes]
rs6576981	0.83[ASN][1000 genomes]
rs6576986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576989	0.84[EUR][1000 genomes]
rs6751132	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6753987	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6756482	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6758151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs72809850	0.83[ASN][1000 genomes]
rs72811623	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811627	0.82[EUR][1000 genomes]
rs72811629	0.90[EUR][1000 genomes]
rs7568206	0.83[ASN][1000 genomes]
rs7580942	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7594727	0.87[CEU][hapmap]
rs7608621	0.87[CEU][hapmap]
rs878064	0.81[ASN][1000 genomes]
rs9948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]

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	chr2:97489600-97498600	Weak transcription	Psoas Muscle	Psoas
33	chr2:97489600-97499600	Strong transcription	Brain Hippocampus Middle	brain
34	chr2:97489800-97501200	Strong transcription	Fetal Brain Female	brain
35	chr2:97490200-97498600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr2:97490200-97498600	Weak transcription	NH-A	brain
37	chr2:97490200-97507800	Strong transcription	Brain Anterior Caudate	brain
38	chr2:97490400-97501800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:97490600-97501200	Strong transcription	HepG2	liver
40	chr2:97490600-97501600	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:97490600-97504000	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr2:97490800-97498800	Strong transcription	Fetal Thymus	thymus
43	chr2:97491600-97499200	Strong transcription	Colon Smooth Muscle	Colon
44	chr2:97491800-97501000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr2:97492200-97498600	Strong transcription	Rectal Smooth Muscle	rectum
46	chr2:97492400-97501200	Strong transcription	Primary hematopoietic stem cells	blood
47	chr2:97493400-97498600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:97494800-97498600	Weak transcription	Fetal Kidney	kidney
49	chr2:97494800-97498600	Weak transcription	Osteobl	bone
50	chr2:97495000-97499400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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