Variant report

Variant	rs7174329
Chromosome Location	chr15:50638050-50638051
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:50627394..50629757-chr15:50635796..50638197,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12438041	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12438692	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12438726	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12441687	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12591072	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12591371	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12595772	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16963635	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58035812	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61086221	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7167333	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7181866	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8031031	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8552	0.89[EUR][1000 genomes];0.94[ASN][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	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50580800-50638400	Weak transcription	NHEK	skin
2	chr15:50600800-50641400	Weak transcription	HSMM	muscle
3	chr15:50600800-50641600	Weak transcription	Fetal Kidney	kidney
4	chr15:50600800-50643000	Weak transcription	Fetal Thymus	thymus
5	chr15:50600800-50643400	Weak transcription	Fetal Muscle Leg	muscle
6	chr15:50600800-50644200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:50600800-50644600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:50601000-50638400	Weak transcription	HUVEC	blood vessel
9	chr15:50601400-50642800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr15:50608800-50642800	Weak transcription	Hela-S3	cervix
11	chr15:50611200-50640400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr15:50611200-50641200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:50611400-50641200	Weak transcription	Primary T cells from cord blood	blood
14	chr15:50611600-50640000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr15:50614400-50640800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr15:50615200-50644000	Weak transcription	HSMMtube	muscle
17	chr15:50615800-50640000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr15:50617800-50639200	Weak transcription	Ovary	ovary
19	chr15:50618200-50642400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:50618400-50646000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:50620400-50641800	Weak transcription	Adipose Nuclei	Adipose
22	chr15:50621200-50646000	Weak transcription	Gastric	stomach
23	chr15:50621400-50638200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:50621800-50640800	Weak transcription	Fetal Brain Male	brain
25	chr15:50622000-50642400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr15:50622800-50640800	Weak transcription	Right Ventricle	heart
27	chr15:50623400-50638200	Weak transcription	A549	lung
28	chr15:50623400-50643000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr15:50623600-50638600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:50623800-50644200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr15:50623800-50645600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr15:50624000-50644000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr15:50624000-50644000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr15:50624000-50644000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr15:50625600-50641600	Weak transcription	Osteobl	bone
36	chr15:50625800-50639200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr15:50626000-50641400	Weak transcription	Dnd41	blood
38	chr15:50627400-50638800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr15:50627400-50638800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr15:50627400-50641400	Weak transcription	Fetal Brain Female	brain
41	chr15:50627600-50638400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr15:50627600-50639000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr15:50627600-50639800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr15:50627600-50642400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr15:50627600-50643000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr15:50627800-50641600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr15:50627800-50643600	Weak transcription	Lung	lung
48	chr15:50628200-50641400	Weak transcription	Brain Hippocampus Middle	brain
49	chr15:50628400-50643600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr15:50629000-50642800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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