Variant report

Variant	rs10971683
Chromosome Location	chr9:3384635-3384636
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12341179	0.86[YRI][hapmap]
rs12341437	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs12347714	0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73385622	0.95[AFR][1000 genomes];1.00[AMR][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	nsv892086	chr9:3012276-3410838	Bivalent Enhancer ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1032921	chr9:3139007-3502815	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv539940	chr9:3139007-3502815	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv531566	chr9:3288211-3545454	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv892089	chr9:3290569-3578094	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv916259	chr9:3308176-4296711	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv1034280	chr9:3319718-3491987	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv539942	chr9:3319718-3491987	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1028815	chr9:3319718-3584455	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
10	nsv466091	chr9:3349487-3389660	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv613146	chr9:3349487-3389660	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv613147	chr9:3368111-3440355	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:3337800-3388800	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr9:3341200-3397600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr9:3351000-3408200	Weak transcription	Fetal Intestine Small	intestine
4	chr9:3359400-3387600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr9:3364200-3397200	Weak transcription	Left Ventricle	heart
6	chr9:3364800-3393800	Weak transcription	Adipose Nuclei	Adipose
7	chr9:3367600-3384800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr9:3369400-3398400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr9:3375800-3390200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:3377000-3386800	Weak transcription	Fetal Lung	lung
11	chr9:3377200-3390000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr9:3377400-3390400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr9:3377600-3401400	Weak transcription	HMEC	breast
14	chr9:3377800-3401600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:3379800-3390400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr9:3380400-3390400	Weak transcription	Thymus	Thymus
17	chr9:3380600-3391400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr9:3381000-3397000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr9:3382200-3425000	Weak transcription	Aorta	Aorta
20	chr9:3382400-3397000	Weak transcription	Fetal Intestine Large	intestine
21	chr9:3382400-3401400	Weak transcription	Brain Anterior Caudate	brain
22	chr9:3382800-3401000	Weak transcription	Brain Germinal Matrix	brain
23	chr9:3383200-3384800	Strong transcription	Primary T cells from cord blood	blood
24	chr9:3383200-3410000	Weak transcription	Fetal Brain Male	brain
25	chr9:3383400-3385800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:3383400-3401400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr9:3383800-3386200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr9:3384000-3386800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr9:3384000-3390000	Strong transcription	Primary B cells from cord blood	blood
30	chr9:3384200-3384800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr9:3384400-3386000	Weak transcription	Psoas Muscle	Psoas
32	chr9:3384600-3385000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr9:3384600-3390600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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