Variant report

Variant	rs9323952
Chromosome Location	chr14:97279145-97279146
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:97265880..97270207-chr14:97278911..97281407,6	K562	blood:
2	chr14:97278908..97281500-chr14:97284326..97286978,2	MCF-7	breast:
3	chr14:97274614..97276764-chr14:97277663..97279518,2	K562	blood:
4	chr14:97265289..97269463-chr14:97278304..97281407,5	K562	blood:
5	chr14:97272734..97276764-chr14:97276840..97280627,4	K562	blood:
6	chr14:97271567..97274016-chr14:97278732..97280457,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10148833	1.00[AMR][1000 genomes]
rs10438228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28373911	1.00[AMR][1000 genomes]
rs28441262	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28472532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28483910	1.00[AMR][1000 genomes]
rs28540414	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076105	1.00[AMR][1000 genomes]
rs74076109	1.00[AMR][1000 genomes]
rs74076110	1.00[AMR][1000 genomes]
rs74076111	1.00[AMR][1000 genomes]
rs74076125	1.00[AMR][1000 genomes]
rs74076127	1.00[AMR][1000 genomes]
rs74076276	1.00[AMR][1000 genomes]
rs74076277	1.00[AMR][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	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
8	nsv1043916	chr14:97275088-97320354	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1051182	chr14:97275088-97337039	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97264800-97288000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr14:97264800-97321600	Weak transcription	Psoas Muscle	Psoas
3	chr14:97265000-97282000	Weak transcription	Fetal Thymus	thymus
4	chr14:97265200-97282200	Weak transcription	Primary T cells from cord blood	blood
5	chr14:97265200-97293200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:97265400-97282600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr14:97265600-97282200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr14:97265600-97282400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:97265600-97291800	Weak transcription	A549	lung
10	chr14:97266200-97282000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr14:97266200-97303200	Weak transcription	Hela-S3	cervix
12	chr14:97266800-97282200	Weak transcription	Thymus	Thymus
13	chr14:97271600-97284200	Weak transcription	NHLF	lung
14	chr14:97271600-97313800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr14:97272000-97282200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr14:97272400-97293800	Weak transcription	Primary B cells from cord blood	blood
17	chr14:97272800-97287200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr14:97273000-97287200	Weak transcription	HMEC	breast
19	chr14:97273400-97284200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:97273600-97279400	Weak transcription	Dnd41	blood
21	chr14:97274400-97282200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr14:97275000-97280800	Weak transcription	Fetal Brain Male	brain
23	chr14:97275400-97281800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr14:97276400-97280600	Weak transcription	K562	blood
25	chr14:97277000-97284200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:97277800-97284200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:97278000-97279600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr14:97278000-97279800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:97278000-97282400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr14:97278000-97287400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:97278200-97279400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr14:97278200-97284200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr14:97278200-97284200	Weak transcription	NHEK	skin
34	chr14:97278200-97287200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:97278400-97279400	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr14:97278400-97279600	Enhancers	Primary B cells from peripheral blood	blood
37	chr14:97278400-97279600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr14:97278400-97280400	Weak transcription	Osteobl	bone
39	chr14:97278400-97287200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:97278600-97279200	Flanking Active TSS	GM12878-XiMat	blood
41	chr14:97278600-97279600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr14:97279000-97279600	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr14:97279000-97284800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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