Variant report

Variant	rs16941677
Chromosome Location	chr17:45299814-45299815
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45266341..45268368-chr17:45299147..45300680,2	K562	blood:
2	chr17:45298890..45301217-chr17:45302235..45305116,3	K562	blood:
3	chr17:45290405..45293270-chr17:45298817..45300612,2	K562	blood:
4	chr17:45298839..45301217-chr17:45302235..45304685,3	K562	blood:
5	chr17:45297983..45300898-chr17:45329772..45332242,2	K562	blood:

Variant related genes	Relation type
ENSG00000004897	Chromatin interaction
ENSG00000259207	Chromatin interaction
ENSG00000259753	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13341533	1.00[YRI][hapmap]
rs9893095	1.00[YRI][hapmap];0.81[AFR][1000 genomes]

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

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45288400-45302000	Weak transcription	HSMM	muscle
2	chr17:45295600-45301800	Enhancers	Fetal Intestine Small	intestine
3	chr17:45296400-45304000	Enhancers	Stomach Mucosa	stomach
4	chr17:45296400-45305000	Enhancers	Spleen	Spleen
5	chr17:45296800-45300200	Weak transcription	Adipose Nuclei	Adipose
6	chr17:45297200-45300200	Weak transcription	Right Atrium	heart
7	chr17:45297800-45300800	Enhancers	Duodenum Mucosa	Duodenum
8	chr17:45297800-45302000	Weak transcription	Gastric	stomach
9	chr17:45298000-45301200	Strong transcription	HSMMtube	muscle
10	chr17:45298200-45300000	Enhancers	Fetal Heart	heart
11	chr17:45298200-45300200	Weak transcription	NHDF-Ad	bronchial
12	chr17:45298200-45300400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr17:45298200-45300400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr17:45298200-45300600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr17:45298200-45302000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr17:45298400-45300000	Strong transcription	K562	blood
17	chr17:45298400-45300200	Weak transcription	Right Ventricle	heart
18	chr17:45298400-45302200	Weak transcription	NH-A	brain
19	chr17:45298400-45307000	Weak transcription	Fetal Lung	lung
20	chr17:45298400-45307400	Weak transcription	Fetal Brain Female	brain
21	chr17:45298800-45300200	Strong transcription	Fetal Muscle Leg	muscle
22	chr17:45299000-45301000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr17:45299200-45300400	Strong transcription	Fetal Muscle Trunk	muscle
24	chr17:45299200-45301800	Enhancers	Fetal Intestine Large	intestine
25	chr17:45299200-45302000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr17:45299200-45302800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr17:45299400-45300800	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr17:45299400-45301000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr17:45299600-45300400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr17:45299600-45302600	Enhancers	Left Ventricle	heart
31	chr17:45299600-45304200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr17:45299800-45301400	Enhancers	Lung	lung
33	chr17:45299800-45302000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr17:45299800-45302000	Weak transcription	Small Intestine	intestine

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