Variant report

Variant	rs57123247
Chromosome Location	chr15:34375343-34375344
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	chr15:34369062..34371290-chr15:34373285..34375795,2	K562	blood:
2	chr15:34374878..34376788-chr15:34377498..34380301,3	K562	blood:

Variant related genes	Relation type
ENSG00000243094	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56167847	1.00[AMR][1000 genomes]
rs57559713	1.00[AMR][1000 genomes]
rs58385931	0.85[AMR][1000 genomes]
rs59075648	1.00[AMR][1000 genomes]
rs59210484	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59828550	1.00[AMR][1000 genomes]
rs60885608	0.85[AMR][1000 genomes]
rs653404	0.85[AMR][1000 genomes]
rs74007650	1.00[AMR][1000 genomes]
rs74007653	1.00[AMR][1000 genomes]
rs74007655	1.00[AMR][1000 genomes]
rs74007656	1.00[AMR][1000 genomes]
rs74007657	1.00[AMR][1000 genomes]
rs74007663	1.00[AMR][1000 genomes]
rs74007670	1.00[AMR][1000 genomes]
rs74007676	1.00[AMR][1000 genomes]
rs74007678	1.00[AMR][1000 genomes]
rs74007683	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74007687	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74007688	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74007690	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74007691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74007692	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74007693	1.00[AMR][1000 genomes]
rs74007694	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456789	chr15:34034421-34426618	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv568920	chr15:34034421-34426618	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv471235	chr15:34035529-34421951	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1035579	chr15:34363159-34501115	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34354200-34375600	Weak transcription	Brain Substantia Nigra	brain
2	chr15:34354200-34376400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr15:34354400-34379600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr15:34358600-34393000	Weak transcription	Aorta	Aorta
5	chr15:34364800-34375400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr15:34365800-34378000	Weak transcription	HSMMtube	muscle
7	chr15:34367800-34375600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:34367800-34375600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr15:34368000-34379600	Weak transcription	Fetal Brain Female	brain
10	chr15:34368000-34391600	Weak transcription	Right Ventricle	heart
11	chr15:34368200-34378200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr15:34368400-34375600	Weak transcription	Primary B cells from cord blood	blood
13	chr15:34368800-34375600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:34368800-34392400	Weak transcription	Psoas Muscle	Psoas
15	chr15:34369000-34375600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:34369000-34375600	Weak transcription	Brain Germinal Matrix	brain
17	chr15:34369000-34376000	Weak transcription	Primary T cells from cord blood	blood
18	chr15:34369400-34377600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:34369400-34378200	Weak transcription	Esophagus	oesophagus
20	chr15:34369600-34376600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:34369600-34378000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr15:34369600-34391600	Weak transcription	NHEK	skin
23	chr15:34370000-34379600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr15:34370200-34375600	Weak transcription	Fetal Kidney	kidney
25	chr15:34370400-34375600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr15:34371000-34376400	Weak transcription	Ovary	ovary
27	chr15:34371000-34377600	Weak transcription	Fetal Intestine Small	intestine
28	chr15:34371400-34375600	Weak transcription	Liver	Liver
29	chr15:34371800-34376400	Weak transcription	A549	lung
30	chr15:34372000-34375600	Weak transcription	Fetal Intestine Large	intestine
31	chr15:34372000-34375600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr15:34372000-34378000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr15:34372400-34375800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr15:34372600-34375400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr15:34372600-34375600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr15:34372600-34375800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr15:34372600-34375800	Weak transcription	K562	blood
38	chr15:34372800-34375800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr15:34372800-34376000	Weak transcription	Fetal Lung	lung
40	chr15:34372800-34393200	Weak transcription	Colonic Mucosa	Colon
41	chr15:34373000-34375400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr15:34373200-34375400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:34373200-34375400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr15:34373200-34375400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr15:34373200-34375400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr15:34373400-34378200	Weak transcription	Colon Smooth Muscle	Colon
47	chr15:34373600-34375600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr15:34373600-34376400	Weak transcription	Thymus	Thymus
49	chr15:34373600-34392400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr15:34373800-34375400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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