Variant report

Variant	rs10130507
Chromosome Location	chr14:31829357-31829358
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31828101..31830305-chr14:31836175..31838575,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10129177	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130006	0.87[AFR][1000 genomes]
rs10135068	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10136175	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10140697	1.00[AMR][1000 genomes]
rs10146567	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10150602	0.87[AFR][1000 genomes]
rs10151215	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10151624	0.91[AFR][1000 genomes]
rs1111724	1.00[AMR][1000 genomes]
rs11844137	1.00[AMR][1000 genomes]
rs1952105	1.00[AMR][1000 genomes]
rs28548120	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28623024	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28637251	0.87[AFR][1000 genomes]
rs4981094	1.00[AMR][1000 genomes]
rs58291808	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58631398	1.00[AMR][1000 genomes]
rs61414525	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7359020	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8010938	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	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv974471	chr14:31825981-31830623	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:31782200-31875200	Weak transcription	Gastric	stomach
3	chr14:31799800-31829600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:31799800-31866800	Weak transcription	Esophagus	oesophagus
5	chr14:31800200-31839800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:31800400-31838200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:31801200-31883800	Weak transcription	Small Intestine	intestine
8	chr14:31801400-31862800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:31801400-31875600	Weak transcription	Brain Germinal Matrix	brain
10	chr14:31801600-31872400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:31801800-31862600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:31802400-31842800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:31802800-31872000	Weak transcription	Fetal Brain Male	brain
14	chr14:31803600-31833000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:31803600-31872600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr14:31803800-31843600	Weak transcription	A549	lung
17	chr14:31803800-31852200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:31805600-31851800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:31806200-31850800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:31808000-31872600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr14:31809600-31872000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:31811800-31854600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr14:31812200-31857400	Weak transcription	Fetal Heart	heart
24	chr14:31812800-31852400	Weak transcription	Brain Angular Gyrus	brain
25	chr14:31813200-31829800	Weak transcription	HMEC	breast
26	chr14:31813200-31872800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr14:31814600-31849200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:31815200-31839600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr14:31816000-31888800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:31816200-31837200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr14:31817000-31837400	Weak transcription	Primary T cells from cord blood	blood
32	chr14:31822000-31830200	Weak transcription	NH-A	brain
33	chr14:31824600-31846000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:31825200-31830200	Strong transcription	HSMM	muscle
35	chr14:31825400-31833400	Weak transcription	Thymus	Thymus
36	chr14:31825400-31840800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr14:31825400-31847200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr14:31825600-31840800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:31825600-31841000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr14:31825600-31872800	Weak transcription	Fetal Kidney	kidney
41	chr14:31825600-31878600	Weak transcription	Pancreas	Pancrea
42	chr14:31825800-31832800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr14:31825800-31843600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr14:31825800-31860200	Weak transcription	Psoas Muscle	Psoas
45	chr14:31826000-31830400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr14:31826600-31830400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:31826600-31830400	Strong transcription	Stomach Smooth Muscle	stomach
48	chr14:31826600-31836000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr14:31826600-31840600	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr14:31826600-31847000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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