Variant report

Variant	rs17848500
Chromosome Location	chr15:40321780-40321781
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:40321614-40321788	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40320931..40323149-chr15:40329689..40332182,2	MCF-7	breast:

Variant related genes	Relation type
EIF2AK4	TF binding region
ENSG00000140319	Chromatin interaction
ENSG00000248508	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs61375261	1.00[AMR][1000 genomes]
rs74011703	1.00[AMR][1000 genomes]
rs74011718	1.00[AMR][1000 genomes]
rs74011719	1.00[AMR][1000 genomes]
rs74011721	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv428635	chr15:40274500-40436293	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats 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	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40228200-40323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr15:40296400-40325200	Weak transcription	Hela-S3	cervix
3	chr15:40301000-40322000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr15:40303000-40329600	Strong transcription	Liver	Liver
5	chr15:40305200-40330200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr15:40306800-40328800	Weak transcription	Stomach Mucosa	stomach
7	chr15:40306800-40329800	Strong transcription	Osteobl	bone
8	chr15:40307000-40329000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr15:40307000-40329400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:40307200-40329600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:40307400-40326800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr15:40307400-40329600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:40307600-40326200	Strong transcription	HSMM	muscle
14	chr15:40307600-40329200	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr15:40307600-40329200	Strong transcription	HMEC	breast
16	chr15:40307800-40329600	Strong transcription	NH-A	brain
17	chr15:40307800-40330000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr15:40308000-40329000	Strong transcription	HepG2	liver
19	chr15:40308000-40329600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr15:40308000-40329800	Strong transcription	NHDF-Ad	bronchial
21	chr15:40308000-40330000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr15:40308200-40329600	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr15:40308600-40328800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr15:40308600-40330000	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr15:40308800-40330000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr15:40309200-40329600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr15:40310000-40326400	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr15:40310000-40329200	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr15:40310000-40329400	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr15:40310000-40330000	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr15:40310600-40328800	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr15:40310600-40329800	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr15:40310600-40330000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr15:40310600-40330000	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr15:40312400-40324400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr15:40312400-40324400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr15:40313600-40329200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:40313600-40329800	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr15:40313800-40324200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr15:40313800-40326200	Weak transcription	Small Intestine	intestine
41	chr15:40314000-40324600	Weak transcription	Fetal Brain Male	brain
42	chr15:40314000-40329600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr15:40314000-40330400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr15:40314200-40322000	Weak transcription	K562	blood
45	chr15:40314200-40324400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr15:40314200-40324600	Strong transcription	Adipose Nuclei	Adipose
47	chr15:40314400-40322400	Weak transcription	Right Ventricle	heart
48	chr15:40315000-40324400	Weak transcription	Pancreas	Pancrea
49	chr15:40315000-40328400	Weak transcription	Aorta	Aorta
50	chr15:40315000-40329600	Strong transcription	Primary monocytes fromperipheralblood	blood

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