Variant report

Variant	rs73374335
Chromosome Location	chr15:34375524-34375525
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	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: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11072954	0.89[EUR][1000 genomes]
rs11634597	0.82[EUR][1000 genomes]
rs11853879	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11856158	0.94[EUR][1000 genomes]
rs12592547	0.91[EUR][1000 genomes]
rs12592856	0.82[EUR][1000 genomes]
rs12594048	0.82[EUR][1000 genomes]
rs12903028	0.82[EUR][1000 genomes]
rs1436923	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16958770	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1865925	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2339374	0.82[EUR][1000 genomes]
rs2568532	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2576308	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2576310	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28376576	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3794593	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4288968	0.86[ASN][1000 genomes]
rs4468578	0.82[EUR][1000 genomes]
rs4780214	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4780215	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4780216	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs522397	0.84[ASN][1000 genomes]
rs56310728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57205845	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58152986	0.80[ASN][1000 genomes]
rs623941	0.85[ASN][1000 genomes]
rs6495519	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7161835	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7163226	0.93[EUR][1000 genomes]
rs7182085	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs721122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8028703	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8038259	0.90[EUR][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	chr15:34365800-34378000	Weak transcription	HSMMtube	muscle
6	chr15:34367800-34375600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:34367800-34375600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr15:34368000-34379600	Weak transcription	Fetal Brain Female	brain
9	chr15:34368000-34391600	Weak transcription	Right Ventricle	heart
10	chr15:34368200-34378200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr15:34368400-34375600	Weak transcription	Primary B cells from cord blood	blood
12	chr15:34368800-34375600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:34368800-34392400	Weak transcription	Psoas Muscle	Psoas
14	chr15:34369000-34375600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:34369000-34375600	Weak transcription	Brain Germinal Matrix	brain
16	chr15:34369000-34376000	Weak transcription	Primary T cells from cord blood	blood
17	chr15:34369400-34377600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:34369400-34378200	Weak transcription	Esophagus	oesophagus
19	chr15:34369600-34376600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr15:34369600-34378000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:34369600-34391600	Weak transcription	NHEK	skin
22	chr15:34370000-34379600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr15:34370200-34375600	Weak transcription	Fetal Kidney	kidney
24	chr15:34370400-34375600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr15:34371000-34376400	Weak transcription	Ovary	ovary
26	chr15:34371000-34377600	Weak transcription	Fetal Intestine Small	intestine
27	chr15:34371400-34375600	Weak transcription	Liver	Liver
28	chr15:34371800-34376400	Weak transcription	A549	lung
29	chr15:34372000-34375600	Weak transcription	Fetal Intestine Large	intestine
30	chr15:34372000-34375600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr15:34372000-34378000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr15:34372400-34375800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr15:34372600-34375600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr15:34372600-34375800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr15:34372600-34375800	Weak transcription	K562	blood
36	chr15:34372800-34375800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr15:34372800-34376000	Weak transcription	Fetal Lung	lung
38	chr15:34372800-34393200	Weak transcription	Colonic Mucosa	Colon
39	chr15:34373400-34378200	Weak transcription	Colon Smooth Muscle	Colon
40	chr15:34373600-34375600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr15:34373600-34376400	Weak transcription	Thymus	Thymus
42	chr15:34373600-34392400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr15:34373800-34375600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr15:34373800-34375600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:34373800-34375600	Weak transcription	Adipose Nuclei	Adipose
46	chr15:34373800-34375600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr15:34373800-34375600	Weak transcription	Placenta	Placenta
48	chr15:34373800-34375600	Weak transcription	HSMM	muscle
49	chr15:34373800-34375600	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr15:34373800-34375600	Weak transcription	NH-A	brain

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