Variant report

Variant	rs17605038
Chromosome Location	chr17:45302098-45302099
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45300506..45304139-chr17:45304220..45308207,3	MCF-7	breast:
2	chr17:45296665..45298632-chr17:45300677..45303361,2	K562	blood:
3	chr17:45302015..45304122-chr17:45394820..45397251,2	K562	blood:
4	chr17:45301138..45304100-chr17:45679746..45682538,3	K562	blood:

Variant related genes	Relation type
ENSG00000198336	Chromatin interaction
ENSG00000141279	Chromatin interaction
ENSG00000252088	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11653733	1.00[CHB][hapmap]
rs5918	1.00[CHB][hapmap]
rs7214096	1.00[CHB][hapmap]
rs8069732	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17605038	MLX	cis	parietal	SCAN
rs17605038	SOST	cis	cerebellum	SCAN
rs17605038	BRCA1	cis	parietal	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45296400-45304000	Enhancers	Stomach Mucosa	stomach
2	chr17:45296400-45305000	Enhancers	Spleen	Spleen
3	chr17:45298400-45302200	Weak transcription	NH-A	brain
4	chr17:45298400-45307000	Weak transcription	Fetal Lung	lung
5	chr17:45298400-45307400	Weak transcription	Fetal Brain Female	brain
6	chr17:45299200-45302800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr17:45299600-45302600	Enhancers	Left Ventricle	heart
8	chr17:45299600-45304200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr17:45300000-45302800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr17:45300000-45304000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr17:45300200-45302600	Enhancers	HUVEC	blood vessel
12	chr17:45300200-45304000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr17:45300200-45304200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr17:45300600-45302200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr17:45300600-45302200	Enhancers	Fetal Heart	heart
16	chr17:45300600-45302600	Enhancers	Liver	Liver
17	chr17:45300800-45302200	Weak transcription	Placenta	Placenta
18	chr17:45300800-45302200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr17:45300800-45302800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr17:45301000-45302200	Weak transcription	NHEK	skin
21	chr17:45301000-45302400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr17:45301000-45302400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr17:45301000-45303400	Weak transcription	Fetal Kidney	kidney
24	chr17:45301000-45307000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr17:45301200-45302200	Weak transcription	HSMMtube	muscle
26	chr17:45301200-45302400	Enhancers	Stomach Smooth Muscle	stomach
27	chr17:45301400-45306800	Weak transcription	Lung	lung
28	chr17:45301800-45302200	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr17:45301800-45302600	Weak transcription	Fetal Intestine Large	intestine
30	chr17:45301800-45302600	Enhancers	Right Atrium	heart
31	chr17:45301800-45302600	Enhancers	Hela-S3	cervix
32	chr17:45301800-45303200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr17:45301800-45303400	Enhancers	K562	blood
34	chr17:45301800-45303600	Enhancers	HMEC	breast
35	chr17:45302000-45302200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr17:45302000-45302200	Bivalent Enhancer	HepG2	liver
37	chr17:45302000-45302400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr17:45302000-45302400	Enhancers	Adipose Nuclei	Adipose
39	chr17:45302000-45302400	Enhancers	Gastric	stomach
40	chr17:45302000-45302400	Enhancers	Ovary	ovary
41	chr17:45302000-45302600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr17:45302000-45302600	Enhancers	Pancreas	Pancrea
43	chr17:45302000-45302600	Enhancers	Right Ventricle	heart
44	chr17:45302000-45302600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr17:45302000-45302800	Enhancers	Aorta	Aorta
46	chr17:45302000-45303200	Enhancers	HSMM	muscle
47	chr17:45302000-45303400	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr17:45302000-45303600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr17:45302000-45303600	Enhancers	Fetal Stomach	stomach
50	chr17:45302000-45303800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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