Variant report

Variant	rs16941684
Chromosome Location	chr17:45302686-45302687
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45298839..45301217-chr17:45302235..45304685,3	K562	blood:
2	chr17:45300506..45304139-chr17:45304220..45308207,3	MCF-7	breast:
3	chr17:45296665..45298632-chr17:45300677..45303361,2	K562	blood:
4	chr17:45302596..45304693-chr17:45393589..45396501,2	MCF-7	breast:
5	chr17:45298890..45301217-chr17:45302235..45305116,3	K562	blood:
6	chr17:45302015..45304122-chr17:45394820..45397251,2	K562	blood:
7	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: 2 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11079757	0.93[CEU][hapmap];1.00[MEX][hapmap];0.93[TSI][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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs16941684	ATXN7L3	cis	parietal	SCAN
rs16941684	MYL4	cis	lung	GTEx
rs16941684	RAMP2	cis	cerebellum	SCAN
rs16941684	MYL4	cis	multi-tissue	Pritchard
rs16941684	KRTAP4-1	cis	parietal	SCAN

Chromatin state (count:72 , 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	chr17:45298400-45307000	Weak transcription	Fetal Lung	lung
4	chr17:45298400-45307400	Weak transcription	Fetal Brain Female	brain
5	chr17:45299200-45302800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr17:45299600-45304200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr17:45300000-45302800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr17:45300000-45304000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr17:45300200-45304000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr17:45300200-45304200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr17:45300800-45302800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr17:45301000-45303400	Weak transcription	Fetal Kidney	kidney
13	chr17:45301000-45307000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr17:45301400-45306800	Weak transcription	Lung	lung
15	chr17:45301800-45303200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr17:45301800-45303400	Enhancers	K562	blood
17	chr17:45301800-45303600	Enhancers	HMEC	breast
18	chr17:45302000-45302800	Enhancers	Aorta	Aorta
19	chr17:45302000-45303200	Enhancers	HSMM	muscle
20	chr17:45302000-45303400	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr17:45302000-45303600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr17:45302000-45303600	Enhancers	Fetal Stomach	stomach
23	chr17:45302000-45303800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr17:45302000-45303800	Enhancers	Colon Smooth Muscle	Colon
25	chr17:45302000-45303800	Enhancers	Fetal Muscle Leg	muscle
26	chr17:45302000-45303800	Enhancers	Rectal Smooth Muscle	rectum
27	chr17:45302000-45303800	Enhancers	Small Intestine	intestine
28	chr17:45302000-45303800	Enhancers	NHDF-Ad	bronchial
29	chr17:45302000-45304000	Enhancers	Duodenum Mucosa	Duodenum
30	chr17:45302000-45304000	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr17:45302000-45304000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr17:45302000-45304000	Enhancers	NHLF	lung
33	chr17:45302000-45304000	Enhancers	Osteobl	bone
34	chr17:45302000-45304200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr17:45302200-45302800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr17:45302200-45303000	Weak transcription	Fetal Heart	heart
37	chr17:45302200-45303200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr17:45302200-45303200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr17:45302200-45303200	Enhancers	Colonic Mucosa	Colon
40	chr17:45302200-45303200	Enhancers	Placenta	Placenta
41	chr17:45302200-45303200	Enhancers	HSMMtube	muscle
42	chr17:45302200-45303600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr17:45302200-45303600	Enhancers	HepG2	liver
44	chr17:45302200-45303600	Enhancers	NHEK	skin
45	chr17:45302200-45303800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr17:45302200-45303800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr17:45302200-45303800	Enhancers	Fetal Intestine Small	intestine
48	chr17:45302200-45304000	Enhancers	NH-A	brain
49	chr17:45302400-45302800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr17:45302400-45303000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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