Variant report

Variant	rs2224442
Chromosome Location	chr14:97272382-97272383
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:97270252..97272755-chr14:97275339..97277575,4	K562	blood:
2	chr14:97271958..97274868-chr14:97298626..97301164,2	MCF-7	breast:
3	chr14:97271567..97274016-chr14:97278732..97280457,2	K562	blood:
4	chr14:97270310..97272481-chr14:97294425..97296809,2	K562	blood:
5	chr14:97262824..97265554-chr14:97270271..97273136,2	MCF-7	breast:
6	chr14:97269964..97272713-chr14:97520420..97522820,2	K562	blood:
7	chr14:97265808..97269390-chr14:97269409..97272897,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100749	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10131201	0.85[ASN][1000 genomes]
rs10131630	0.89[ASN][1000 genomes]
rs10131890	0.87[CEU][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10132065	0.81[AMR][1000 genomes]
rs10135234	0.82[CHB][hapmap]
rs10135283	0.82[CHB][hapmap]
rs10145383	0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10146571	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10149107	0.86[ASN][1000 genomes]
rs11160369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11160371	0.90[ASN][1000 genomes]
rs11628733	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12433112	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12434466	1.00[ASW][hapmap];0.82[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap];0.88[YRI][hapmap];0.90[ASN][1000 genomes]
rs12435963	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12590723	0.89[ASN][1000 genomes]
rs12878184	0.91[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12882853	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12894621	0.91[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs12897588	0.91[CHB][hapmap]
rs12897731	0.89[ASN][1000 genomes]
rs17094645	0.88[TSI][hapmap]
rs1951311	0.86[ASN][1000 genomes]
rs1951312	0.84[ASN][1000 genomes]
rs1957134	0.82[CHB][hapmap]
rs1957135	0.82[CHB][hapmap]
rs1957137	0.85[ASN][1000 genomes]
rs2145636	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs2145638	0.82[CHB][hapmap]
rs2180896	0.86[ASN][1000 genomes]
rs2230532	0.82[ASW][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3825576	0.96[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4270096	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4900346	0.91[CHB][hapmap]
rs4900347	0.86[ASN][1000 genomes]
rs4900349	0.89[ASN][1000 genomes]
rs4900350	0.91[CHB][hapmap]
rs4900351	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4900353	0.82[CHB][hapmap]
rs4905546	0.86[ASN][1000 genomes]
rs4905547	0.86[ASN][1000 genomes]
rs4905548	0.91[CHB][hapmap]
rs4905551	1.00[CHB][hapmap]
rs4905552	0.86[ASN][1000 genomes]
rs4905553	0.86[ASN][1000 genomes]
rs4905555	0.83[ASN][1000 genomes]
rs4905558	0.89[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4905560	0.84[ASN][1000 genomes]
rs58514314	0.86[ASN][1000 genomes]
rs58579744	0.82[EUR][1000 genomes]
rs61981027	0.86[ASN][1000 genomes]
rs67804110	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs67957817	0.90[ASN][1000 genomes]
rs7156355	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs722869	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs723810	0.91[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs736929	0.82[CHB][hapmap];0.92[CHD][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs749279	0.82[CHB][hapmap]
rs764300	0.91[CHB][hapmap]
rs8013081	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs8016614	0.84[ASN][1000 genomes]
rs9285600	0.89[ASN][1000 genomes]
rs9323951	0.89[ASN][1000 genomes]
rs9323954	0.86[ASN][1000 genomes]
rs9323955	0.91[CHB][hapmap];0.85[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041078	chr14:97001679-97279220	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050075	chr14:97004951-97279220	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv510650	chr14:97238489-97325221	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1052138	chr14:97271794-97322583	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv542180	chr14:97271794-97322583	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97264600-97272400	Weak transcription	Spleen	Spleen
2	chr14:97264800-97272400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:97264800-97272400	Weak transcription	Gastric	stomach
4	chr14:97264800-97272400	Weak transcription	Pancreas	Pancrea
5	chr14:97264800-97278400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr14:97264800-97288000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:97264800-97321600	Weak transcription	Psoas Muscle	Psoas
8	chr14:97265000-97282000	Weak transcription	Fetal Thymus	thymus
9	chr14:97265200-97282200	Weak transcription	Primary T cells from cord blood	blood
10	chr14:97265200-97293200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr14:97265400-97274200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr14:97265400-97277400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:97265400-97278600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr14:97265400-97282600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:97265600-97272800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr14:97265600-97277600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr14:97265600-97282200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr14:97265600-97282400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:97265600-97291800	Weak transcription	A549	lung
20	chr14:97266200-97272600	Weak transcription	NHEK	skin
21	chr14:97266200-97277600	Weak transcription	NHDF-Ad	bronchial
22	chr14:97266200-97277800	Weak transcription	HSMM	muscle
23	chr14:97266200-97282000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr14:97266200-97303200	Weak transcription	Hela-S3	cervix
25	chr14:97266600-97272400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:97266800-97282200	Weak transcription	Thymus	Thymus
27	chr14:97268000-97275000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:97270000-97272800	Enhancers	Fetal Lung	lung
29	chr14:97270000-97273000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:97270200-97273200	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr14:97270200-97274200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:97270400-97275000	Enhancers	Fetal Brain Male	brain
33	chr14:97270600-97272400	Weak transcription	Dnd41	blood
34	chr14:97270600-97278200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:97270800-97279000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr14:97271000-97272600	Enhancers	Fetal Heart	heart
37	chr14:97271000-97272800	Enhancers	Adipose Nuclei	Adipose
38	chr14:97271400-97273600	Enhancers	Brain Germinal Matrix	brain
39	chr14:97271400-97274200	Enhancers	Fetal Brain Female	brain
40	chr14:97271600-97272400	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr14:97271600-97272600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:97271600-97272600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:97271600-97272800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:97271600-97284200	Weak transcription	NHLF	lung
45	chr14:97271600-97313800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr14:97271800-97272400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr14:97271800-97272400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:97271800-97272400	Enhancers	Primary B cells from cord blood	blood
49	chr14:97271800-97272600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr14:97271800-97273000	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links