Variant report

Variant	rs7423455
Chromosome Location	chr2:9894635-9894636
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9886336..9889527-chr2:9892124..9895525,3	MCF-7	breast:
2	chr2:9893059..9895633-chr2:9899321..9902671,3	K562	blood:
3	chr2:9893534..9896583-chr2:9907885..9911717,3	K562	blood:
4	chr2:9768478..9773645-chr2:9894224..9897405,4	K562	blood:
5	chr2:9892015..9895829-chr2:9904744..9907713,4	K562	blood:
6	chr2:9892015..9894940-chr2:9904744..9907619,3	K562	blood:
7	chr2:9888046..9890254-chr2:9893584..9895138,2	K562	blood:
8	chr2:9851071..9852686-chr2:9893395..9896154,2	K562	blood:

Variant related genes	Relation type
ENSG00000243491	Chromatin interaction
ENSG00000134308	Chromatin interaction
ENSG00000240960	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10171491	0.95[ASN][1000 genomes]
rs10173057	0.85[ASN][1000 genomes]
rs10176382	0.93[ASN][1000 genomes]
rs10178017	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10180724	0.91[ASN][1000 genomes]
rs10200779	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10200869	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10202283	0.91[ASN][1000 genomes]
rs1110317	0.93[ASN][1000 genomes]
rs1123269	0.89[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs11674024	0.85[ASN][1000 genomes]
rs11674642	0.90[JPT][hapmap]
rs11676286	0.85[ASN][1000 genomes]
rs11678697	0.83[ASN][1000 genomes]
rs11680429	0.95[JPT][hapmap]
rs12470409	0.85[ASN][1000 genomes]
rs12475853	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12476199	0.91[ASN][1000 genomes]
rs12476232	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12692393	0.92[ASN][1000 genomes]
rs12692394	0.92[ASN][1000 genomes]
rs12996417	0.90[ASN][1000 genomes]
rs13018695	0.93[ASN][1000 genomes]
rs13028425	0.82[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13395171	0.82[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13398163	0.82[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13398193	0.82[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13398304	0.82[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1554107	0.91[ASN][1000 genomes]
rs1554108	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2357263	0.95[JPT][hapmap]
rs34491197	0.83[ASN][1000 genomes]
rs4668636	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs4668637	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs4668644	0.90[ASN][1000 genomes]
rs4669427	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs4669428	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs4669429	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs4669445	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs4669448	0.85[ASN][1000 genomes]
rs4669451	0.90[ASN][1000 genomes]
rs6432033	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs6708081	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6713497	0.93[ASN][1000 genomes]
rs6735280	0.95[JPT][hapmap]
rs6740013	0.93[ASN][1000 genomes]
rs6742929	0.93[ASN][1000 genomes]
rs6743152	0.94[ASN][1000 genomes]
rs6754662	0.93[ASN][1000 genomes]
rs6756567	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6761286	0.93[ASN][1000 genomes]
rs6761920	0.93[ASN][1000 genomes]
rs7423458	0.91[ASN][1000 genomes]
rs7602784	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs7605675	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs868442	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv470443	chr2:9857018-9975557	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1014911	chr2:9863969-9905959	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv873618	chr2:9870631-9919759	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv873619	chr2:9870631-9956981	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv518227	chr2:9893454-9909114	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9889800-9896800	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr2:9890800-9895800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:9891000-9895800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr2:9891600-9896800	Weak transcription	Psoas Muscle	Psoas
5	chr2:9892000-9897800	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr2:9892400-9895600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr2:9892400-9898600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr2:9892600-9894800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:9892600-9894800	Enhancers	Fetal Intestine Large	intestine
10	chr2:9892600-9894800	Enhancers	Fetal Intestine Small	intestine
11	chr2:9892600-9895000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:9892600-9895200	Flanking Active TSS	Hela-S3	cervix
13	chr2:9892600-9895600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:9892600-9897600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:9892800-9894800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:9892800-9894800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr2:9892800-9894800	Bivalent Enhancer	Placenta	Placenta
18	chr2:9892800-9894800	Enhancers	Pancreas	Pancrea
19	chr2:9892800-9894800	Flanking Active TSS	NHEK	skin
20	chr2:9892800-9895000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:9892800-9895000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:9892800-9895000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr2:9892800-9895200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr2:9892800-9895200	Enhancers	Spleen	Spleen
25	chr2:9892800-9895400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:9892800-9895400	Enhancers	Thymus	Thymus
27	chr2:9892800-9895600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:9892800-9895800	Enhancers	Fetal Thymus	thymus
29	chr2:9892800-9897400	Enhancers	Primary hematopoietic stem cells	blood
30	chr2:9893000-9894800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:9893000-9894800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr2:9893000-9894800	Bivalent Enhancer	Stomach Mucosa	stomach
33	chr2:9893000-9895000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:9893000-9895000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr2:9893000-9895400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
36	chr2:9893000-9895600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:9893000-9896200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:9893200-9894800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:9893200-9894800	Enhancers	Gastric	stomach
40	chr2:9893400-9895000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
41	chr2:9893400-9895400	Enhancers	Primary B cells from cord blood	blood
42	chr2:9893400-9897000	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:9893600-9898000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:9893600-9898200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:9893800-9894800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr2:9893800-9894800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:9893800-9894800	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr2:9893800-9894800	Active TSS	Esophagus	oesophagus
49	chr2:9893800-9895000	Enhancers	NH-A	brain
50	chr2:9893800-9895200	Enhancers	GM12878-XiMat	blood

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