Variant report

Variant	rs2442013
Chromosome Location	chr8:99824183-99824184
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99822165..99824664-chr8:99835856..99837909,2	K562	blood:
2	chr8:99823479..99826081-chr8:99837327..99838952,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104375	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10447977	0.84[EUR][1000 genomes]
rs12547297	0.81[EUR][1000 genomes]
rs12679734	0.93[EUR][1000 genomes]
rs12680195	0.82[EUR][1000 genomes]
rs1447245	0.81[EUR][1000 genomes]
rs1476181	0.85[EUR][1000 genomes]
rs1961744	0.95[EUR][1000 genomes]
rs2028975	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2442010	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2442011	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2442012	0.84[EUR][1000 genomes]
rs2442014	0.84[EUR][1000 genomes]
rs2442015	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515214	0.86[EUR][1000 genomes]
rs2515215	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2515216	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515219	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2515221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515224	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2515225	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2922066	0.81[EUR][1000 genomes]
rs2922073	0.97[EUR][1000 genomes]
rs2922074	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2922075	0.84[EUR][1000 genomes]
rs2922076	0.95[EUR][1000 genomes]
rs2922078	0.84[EUR][1000 genomes]
rs2922081	0.84[EUR][1000 genomes]
rs2922084	0.81[EUR][1000 genomes]
rs3019290	0.88[EUR][1000 genomes]
rs3019291	0.89[EUR][1000 genomes]
rs3019293	0.85[EUR][1000 genomes]
rs34281206	0.84[EUR][1000 genomes]
rs35536167	0.84[EUR][1000 genomes]
rs35915594	0.81[EUR][1000 genomes]
rs4255105	0.95[EUR][1000 genomes]
rs4304299	0.84[EUR][1000 genomes]
rs4413739	0.84[EUR][1000 genomes]
rs4562286	0.82[EUR][1000 genomes]
rs57034072	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv891220	chr8:99681858-99867419	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1025685	chr8:99706280-99826236	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv539691	chr8:99706280-99826236	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99813400-99828200	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:99813800-99836400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:99813800-99836400	Weak transcription	Fetal Stomach	stomach
4	chr8:99814200-99826600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:99819000-99829600	Weak transcription	Stomach Mucosa	stomach
6	chr8:99820400-99830000	Weak transcription	Hela-S3	cervix
7	chr8:99820400-99830200	Weak transcription	Brain Substantia Nigra	brain
8	chr8:99820800-99835600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:99821000-99829800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:99821200-99825400	Weak transcription	Aorta	Aorta
11	chr8:99821200-99827000	Weak transcription	Small Intestine	intestine
12	chr8:99821200-99829600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:99821200-99829800	Weak transcription	Fetal Intestine Small	intestine
14	chr8:99821200-99836400	Weak transcription	A549	lung
15	chr8:99821400-99825400	Weak transcription	Fetal Lung	lung
16	chr8:99821400-99826600	Weak transcription	Pancreas	Pancrea
17	chr8:99821400-99828000	Weak transcription	Adipose Nuclei	Adipose
18	chr8:99821400-99828400	Weak transcription	Right Atrium	heart
19	chr8:99821400-99829400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:99821400-99834000	Weak transcription	Fetal Heart	heart
21	chr8:99821400-99836600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:99821600-99828200	Weak transcription	Liver	Liver
23	chr8:99821600-99828200	Weak transcription	Spleen	Spleen
24	chr8:99821600-99828400	Weak transcription	HUVEC	blood vessel
25	chr8:99821600-99830000	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:99821600-99836400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:99821800-99827800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:99822200-99827800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:99822400-99826600	Weak transcription	Esophagus	oesophagus
30	chr8:99822400-99826600	Weak transcription	Gastric	stomach
31	chr8:99822400-99826600	Weak transcription	Lung	lung
32	chr8:99822400-99826600	Weak transcription	Ovary	ovary
33	chr8:99823000-99824200	Enhancers	Psoas Muscle	Psoas
34	chr8:99823000-99824200	Flanking Active TSS	GM12878-XiMat	blood
35	chr8:99823200-99824400	Enhancers	Primary B cells from peripheral blood	blood
36	chr8:99823400-99826800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:99823400-99826800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr8:99823400-99836400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:99823600-99826600	Weak transcription	Placenta	Placenta
40	chr8:99823600-99828200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:99823600-99828400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:99823600-99828400	Weak transcription	Right Ventricle	heart
43	chr8:99823600-99828400	Weak transcription	HMEC	breast
44	chr8:99823600-99828400	Weak transcription	NHEK	skin
45	chr8:99823600-99828600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:99823600-99829800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:99823600-99829800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:99823600-99830000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:99823600-99830200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:99823600-99836400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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