Variant report

Variant	rs10075869
Chromosome Location	chr5:114956959-114956960
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:114956583-114962322	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:114934797..114939548-chr5:114953575..114961976,8	K562	blood:
2	chr5:114945298..114947045-chr5:114956515..114958044,2	K562	blood:
3	chr5:114950269..114954273-chr5:114956632..114959836,4	MCF-7	breast:
4	chr5:114955799..114957829-chr5:115169410..115172369,2	K562	blood:
5	chr5:114954963..114957350-chr5:115175027..115177708,2	K562	blood:
6	chr5:114949905..114952217-chr5:114956239..114958053,2	K562	blood:

No data

Variant related genes	Relation type
TMED7-TICAM2	TF binding region
ENSG00000249249	Chromatin interaction
ENSG00000243414	Chromatin interaction
ENSG00000177879	Chromatin interaction
ENSG00000251201	Chromatin interaction
ENSG00000145782	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10043094	0.83[EUR][1000 genomes]
rs10051170	0.92[ASN][1000 genomes]
rs10055339	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10055514	0.91[ASN][1000 genomes]
rs10069695	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10073505	0.83[EUR][1000 genomes]
rs10077239	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10079000	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13153908	0.83[EUR][1000 genomes]
rs2052834	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs256963	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256965	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs256989	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs256995	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6594895	0.96[ASN][1000 genomes]
rs746566	0.84[EUR][1000 genomes]
rs9326970	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114938200-114957200	Weak transcription	Small Intestine	intestine
2	chr5:114938200-114958200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:114938200-114960200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:114938600-114958000	Weak transcription	Ovary	ovary
5	chr5:114938600-114960000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:114938800-114957400	Weak transcription	Aorta	Aorta
7	chr5:114938800-114958600	Weak transcription	Right Ventricle	heart
8	chr5:114938800-114960000	Weak transcription	Lung	lung
9	chr5:114939000-114957200	Weak transcription	Fetal Brain Male	brain
10	chr5:114939000-114957200	Weak transcription	Fetal Intestine Small	intestine
11	chr5:114939000-114957200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:114939000-114957400	Weak transcription	Pancreas	Pancrea
13	chr5:114939000-114958000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr5:114939000-114958000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:114939000-114958200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:114939000-114958800	Weak transcription	Fetal Stomach	stomach
17	chr5:114939000-114959200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:114939000-114960200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:114939200-114957200	Weak transcription	Brain Angular Gyrus	brain
20	chr5:114939200-114958800	Weak transcription	Spleen	Spleen
21	chr5:114940400-114957200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:114941000-114959400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:114941400-114958000	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:114944200-114957200	Weak transcription	Gastric	stomach
25	chr5:114945400-114958600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:114945800-114958200	Strong transcription	Primary B cells from cord blood	blood
27	chr5:114946000-114958200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr5:114946000-114959400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:114946200-114957600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:114946200-114958000	Strong transcription	Dnd41	blood
31	chr5:114946200-114958200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr5:114946200-114959400	Strong transcription	Fetal Thymus	thymus
33	chr5:114947400-114957400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:114947600-114957800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr5:114947800-114957600	Strong transcription	HSMM	muscle
36	chr5:114948200-114958000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:114948400-114958200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr5:114948600-114957400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:114949400-114957400	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr5:114949800-114957000	Strong transcription	Osteobl	bone
41	chr5:114949800-114958000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:114949800-114958200	Strong transcription	HMEC	breast
43	chr5:114950200-114958000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:114951800-114958000	Strong transcription	NHEK	skin
45	chr5:114952400-114958000	Weak transcription	Thymus	Thymus
46	chr5:114952400-114959200	Weak transcription	Brain Germinal Matrix	brain
47	chr5:114952400-114959400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:114952400-114960200	Weak transcription	Esophagus	oesophagus
49	chr5:114952600-114958600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr5:114953400-114957200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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