Variant report

Variant	rs12054423
Chromosome Location	chr3:113315425-113315426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2614196	0.87[ASN][1000 genomes]
rs2614197	1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs2669907	0.87[ASN][1000 genomes]
rs7340728	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1004000	chr3:113116778-113513899	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv877349	chr3:113208224-113323787	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv877350	chr3:113208224-113332235	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113280200-113321600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr3:113285200-113329800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr3:113285200-113343400	Weak transcription	Small Intestine	intestine
4	chr3:113286000-113316800	Weak transcription	Brain Angular Gyrus	brain
5	chr3:113294400-113321600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr3:113296800-113324200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr3:113297400-113315600	Strong transcription	GM12878-XiMat	blood
8	chr3:113305000-113325000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:113305600-113324600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr3:113305800-113322800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:113306000-113320400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr3:113308000-113320400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr3:113308400-113320800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr3:113308400-113321400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr3:113309200-113325000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr3:113309400-113321600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr3:113311800-113317200	Strong transcription	Primary B cells from cord blood	blood
18	chr3:113311800-113324400	Strong transcription	Primary T cells from cord blood	blood
19	chr3:113312000-113316200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr3:113312000-113317400	Enhancers	Fetal Thymus	thymus
21	chr3:113312400-113320400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr3:113312400-113320600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr3:113312400-113320600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr3:113313400-113320600	Weak transcription	Thymus	Thymus
25	chr3:113313800-113320800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr3:113313800-113324200	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr3:113314800-113315600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr3:113314800-113320400	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr3:113315200-113315800	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr3:113315200-113320400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr3:113315200-113320800	Weak transcription	Spleen	Spleen
32	chr3:113315400-113319600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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