Variant report

Variant	rs10140697
Chromosome Location	chr14:31825437-31825438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31698046..31700432-chr14:31824994..31826810,2	K562	blood:
2	chr14:31819147..31821275-chr14:31824530..31827299,2	K562	blood:
3	chr14:31676589..31678359-chr14:31823453..31827063,4	MCF-7	breast:
4	chr14:31674894..31678843-chr14:31820939..31826444,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092148	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10129177	1.00[AMR][1000 genomes]
rs10130507	1.00[AMR][1000 genomes]
rs10135068	1.00[AMR][1000 genomes]
rs10136673	0.95[AFR][1000 genomes]
rs10146567	0.86[LWK][hapmap];1.00[AMR][1000 genomes]
rs10151215	1.00[AMR][1000 genomes]
rs1111724	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11621557	0.91[YRI][hapmap];0.95[AFR][1000 genomes]
rs11844137	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12434943	0.83[AFR][1000 genomes]
rs1952105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1958026	0.87[AFR][1000 genomes]
rs2378863	0.91[YRI][hapmap]
rs28548120	1.00[AMR][1000 genomes]
rs28623024	1.00[AMR][1000 genomes]
rs4981094	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4981099	0.88[LWK][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes]
rs58291808	1.00[AMR][1000 genomes]
rs58631398	1.00[AMR][1000 genomes]
rs61414525	1.00[AMR][1000 genomes]
rs6571424	0.87[AFR][1000 genomes]
rs7156793	0.83[AFR][1000 genomes]
rs7359020	1.00[AMR][1000 genomes]
rs8005617	0.84[ASW][hapmap];0.94[LWK][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes]
rs8010938	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:120 , 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	chr14:31782400-31827000	Weak transcription	Aorta	Aorta
4	chr14:31799600-31827000	Weak transcription	Right Ventricle	heart
5	chr14:31799800-31829600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:31799800-31866800	Weak transcription	Esophagus	oesophagus
7	chr14:31800200-31839800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:31800400-31838200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:31801200-31883800	Weak transcription	Small Intestine	intestine
10	chr14:31801400-31862800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:31801400-31875600	Weak transcription	Brain Germinal Matrix	brain
12	chr14:31801600-31872400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:31801800-31862600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:31802400-31827200	Weak transcription	Brain Substantia Nigra	brain
15	chr14:31802400-31842800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:31802800-31872000	Weak transcription	Fetal Brain Male	brain
17	chr14:31803600-31833000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:31803600-31872600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr14:31803800-31843600	Weak transcription	A549	lung
20	chr14:31803800-31852200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:31805600-31851800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:31806200-31850800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:31806400-31829200	Strong transcription	Placenta	Placenta
24	chr14:31806600-31826600	Weak transcription	NHEK	skin
25	chr14:31806600-31826800	Weak transcription	Hela-S3	cervix
26	chr14:31808000-31872600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr14:31808600-31827000	Weak transcription	Lung	lung
28	chr14:31809600-31872000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:31810200-31827800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr14:31811800-31854600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr14:31812200-31857400	Weak transcription	Fetal Heart	heart
32	chr14:31812800-31827000	Weak transcription	Spleen	Spleen
33	chr14:31812800-31852400	Weak transcription	Brain Angular Gyrus	brain
34	chr14:31813200-31829800	Weak transcription	HMEC	breast
35	chr14:31813200-31872800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr14:31813400-31827200	Weak transcription	HSMMtube	muscle
37	chr14:31814400-31827000	Weak transcription	Ovary	ovary
38	chr14:31814400-31827200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:31814600-31849200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr14:31815200-31839600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr14:31816000-31888800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr14:31816200-31837200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr14:31816400-31827000	Weak transcription	NHLF	lung
44	chr14:31816800-31826600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:31816800-31827000	Weak transcription	Brain Hippocampus Middle	brain
46	chr14:31817000-31826800	Weak transcription	Fetal Brain Female	brain
47	chr14:31817000-31827200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr14:31817000-31827400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr14:31817000-31837400	Weak transcription	Primary T cells from cord blood	blood
50	chr14:31817200-31827400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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