Variant report

Variant	rs34222295
Chromosome Location	chr15:100123463-100123464
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:100105377..100107191-chr15:100123096..100125777,2	K562	blood:
2	chr15:100118981..100120902-chr15:100121379..100123708,2	K562	blood:
3	chr15:100121660..100123985-chr15:100171414..100173552,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000068305	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12900424	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12913446	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12914317	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12915690	0.96[ASN][1000 genomes]
rs12916795	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2290446	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs34513363	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34987456	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35043171	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs35295124	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35357315	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35480704	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35487956	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs35585008	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35655388	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35912172	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3730280	0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3784450	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67074319	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67381509	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67593144	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71403454	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71403455	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8024380	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8030451	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8036677	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1051560	chr15:99837102-100124483	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv817201	chr15:99839238-100537341	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv904558	chr15:100019382-100171684	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv984225	chr15:100120927-100124483	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:100107400-100134200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:100107400-100134200	Weak transcription	Pancreas	Pancrea
3	chr15:100107800-100124800	Weak transcription	Fetal Stomach	stomach
4	chr15:100108000-100142000	Weak transcription	Thymus	Thymus
5	chr15:100108200-100125200	Weak transcription	Fetal Muscle Leg	muscle
6	chr15:100108400-100124600	Weak transcription	Brain Germinal Matrix	brain
7	chr15:100109000-100124000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr15:100109000-100140200	Weak transcription	Hela-S3	cervix
9	chr15:100109600-100124000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:100109600-100125800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr15:100109600-100126200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr15:100109600-100132200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr15:100114200-100124000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:100114400-100124400	Weak transcription	A549	lung
15	chr15:100115000-100138800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr15:100116400-100124000	Weak transcription	Primary B cells from cord blood	blood
17	chr15:100117600-100123600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr15:100118800-100132200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:100118800-100139800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:100119000-100124000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr15:100119000-100124400	Enhancers	Fetal Heart	heart
22	chr15:100119200-100124000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr15:100119400-100123800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr15:100119400-100123800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr15:100119400-100124000	Weak transcription	NHEK	skin
26	chr15:100119600-100124000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:100120200-100123800	Enhancers	Colon Smooth Muscle	Colon
28	chr15:100120200-100123800	Enhancers	Rectal Smooth Muscle	rectum
29	chr15:100120200-100124400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr15:100120400-100124800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr15:100120400-100134200	Weak transcription	Aorta	Aorta
32	chr15:100120600-100124800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr15:100120600-100128400	Weak transcription	Fetal Thymus	thymus
34	chr15:100120600-100132800	Weak transcription	Left Ventricle	heart
35	chr15:100120800-100124000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr15:100120800-100124000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr15:100120800-100124000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:100120800-100124000	Weak transcription	Gastric	stomach
39	chr15:100120800-100124000	Weak transcription	Dnd41	blood
40	chr15:100120800-100124600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr15:100120800-100124600	Weak transcription	Brain Hippocampus Middle	brain
42	chr15:100120800-100125000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr15:100120800-100125800	Weak transcription	NHDF-Ad	bronchial
44	chr15:100120800-100131200	Weak transcription	Right Ventricle	heart
45	chr15:100120800-100140200	Weak transcription	HSMM	muscle
46	chr15:100120800-100142600	Weak transcription	Ovary	ovary
47	chr15:100121000-100131200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr15:100121600-100124000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr15:100121600-100127000	Weak transcription	Primary T cells from cord blood	blood
50	chr15:100121800-100124600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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