Variant report

Variant	rs7598
Chromosome Location	chr15:34522179-34522180
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:34516698..34519537-chr15:34520769..34523164,2	K562	blood:
2	chr15:34514547..34516145-chr15:34521296..34523064,2	K562	blood:
3	chr15:34520473..34523178-chr15:34541838..34543586,2	K562	blood:
4	chr15:34516443..34520692-chr15:34521035..34525736,7	MCF-7	breast:
5	chr15:34502586..34504102-chr15:34521539..34524042,2	K562	blood:

Variant related genes	Relation type
ENSG00000128463	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs7166919	0.85[AFR][1000 genomes]
rs8023674	0.83[AFR][1000 genomes]
rs8040647	0.95[AFR][1000 genomes];1.00[AMR][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	nsv1052804	chr15:34498529-34841447	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv542341	chr15:34498529-34841447	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1045173	chr15:34501055-34596995	Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34517800-34531200	Weak transcription	Small Intestine	intestine
2	chr15:34518000-34528000	Weak transcription	Aorta	Aorta
3	chr15:34518000-34532800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:34518000-34571800	Weak transcription	Stomach Mucosa	stomach
5	chr15:34518200-34525600	Weak transcription	Colon Smooth Muscle	Colon
6	chr15:34518200-34528800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr15:34518400-34522200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr15:34518400-34522400	Weak transcription	Right Ventricle	heart
9	chr15:34518400-34531000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr15:34518800-34523200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr15:34518800-34524800	Strong transcription	Fetal Intestine Small	intestine
12	chr15:34518800-34524800	Strong transcription	Fetal Stomach	stomach
13	chr15:34518800-34529000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:34518800-34548200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr15:34519000-34522800	Strong transcription	Brain Substantia Nigra	brain
16	chr15:34519000-34523200	Strong transcription	Primary T cells from cord blood	blood
17	chr15:34519000-34523200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:34519000-34523200	Strong transcription	A549	lung
19	chr15:34519000-34523800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:34519000-34524000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr15:34519000-34552400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr15:34519200-34523200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr15:34519200-34523200	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr15:34519200-34523200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr15:34519200-34523200	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr15:34519200-34523200	Strong transcription	NH-A	brain
27	chr15:34519200-34523200	Strong transcription	NHEK	skin
28	chr15:34519200-34523400	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr15:34519200-34523400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:34519200-34523600	Strong transcription	HSMM	muscle
31	chr15:34519200-34523800	Strong transcription	Osteobl	bone
32	chr15:34519200-34530200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr15:34519200-34533200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr15:34519200-34534000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr15:34519200-34552200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr15:34519200-34553600	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr15:34519400-34523000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr15:34519400-34523200	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr15:34519400-34523200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:34519400-34523200	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr15:34519400-34523200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr15:34519400-34523200	Strong transcription	Fetal Lung	lung
43	chr15:34519400-34523200	Strong transcription	Placenta	Placenta
44	chr15:34519400-34523200	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr15:34519400-34523200	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr15:34519400-34523200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr15:34519400-34523400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr15:34519400-34523400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr15:34519400-34523400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr15:34519400-34523600	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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