Variant report

Variant	rs12247512
Chromosome Location	chr10:4113754-4113755
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12246141	0.85[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12254750	0.80[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12266996	0.86[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12268483	0.85[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56736206	1.00[AMR][1000 genomes]
rs57941192	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60080072	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6601799	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73589514	0.85[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	nsv1051297	chr10:3908706-4277678	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv831772	chr10:4039292-4212218	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1046213	chr10:4059937-4144692	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv540460	chr10:4059937-4144692	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4104400-4117200	Weak transcription	Small Intestine	intestine
2	chr10:4108000-4115000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:4109800-4116200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr10:4110200-4115400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr10:4110200-4116000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr10:4110400-4115800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr10:4110400-4116000	Weak transcription	HSMM	muscle
8	chr10:4110400-4117000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr10:4110600-4116200	Weak transcription	Stomach Mucosa	stomach
10	chr10:4110800-4115800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr10:4110800-4116000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr10:4111000-4114800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr10:4111400-4114000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr10:4112000-4116000	Weak transcription	Primary T cells from cord blood	blood
15	chr10:4112000-4116000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr10:4112000-4116000	Weak transcription	Right Ventricle	heart
17	chr10:4112000-4116200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr10:4112000-4116200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr10:4112000-4116200	Weak transcription	Fetal Thymus	thymus
20	chr10:4112000-4116200	Weak transcription	Left Ventricle	heart
21	chr10:4112000-4122000	Weak transcription	Spleen	Spleen
22	chr10:4112000-4124600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr10:4112200-4115600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr10:4112200-4115800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr10:4112200-4115800	Weak transcription	Adipose Nuclei	Adipose
26	chr10:4112200-4115800	Weak transcription	HSMMtube	muscle
27	chr10:4112200-4115800	Weak transcription	NHLF	lung
28	chr10:4112200-4116000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr10:4112200-4116000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr10:4112200-4116000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr10:4112200-4116200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr10:4112200-4116200	Weak transcription	Right Atrium	heart
33	chr10:4112200-4116200	Weak transcription	Dnd41	blood
34	chr10:4112200-4116200	Weak transcription	NH-A	brain
35	chr10:4112400-4114800	Weak transcription	NHDF-Ad	bronchial
36	chr10:4112400-4115000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr10:4112400-4116000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr10:4112400-4116400	Weak transcription	Fetal Heart	heart
39	chr10:4112600-4115000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr10:4112800-4113800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr10:4112800-4113800	Enhancers	Fetal Muscle Leg	muscle
42	chr10:4112800-4114800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr10:4112800-4114800	Weak transcription	Osteobl	bone
44	chr10:4112800-4115000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr10:4113000-4114800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr10:4113000-4115000	Weak transcription	HUVEC	blood vessel
47	chr10:4113000-4115400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr10:4113000-4116200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr10:4113200-4113800	Enhancers	Aorta	Aorta
50	chr10:4113200-4114800	Weak transcription	NHEK	skin

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