Variant report

Variant	rs17713448
Chromosome Location	chr11:100691721-100691722
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100691211..100693446-chr11:100695155..100697505,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17644949	0.84[EUR][1000 genomes]
rs17651201	0.88[EUR][1000 genomes]
rs4121393	0.84[EUR][1000 genomes]
rs4532998	0.84[EUR][1000 genomes]
rs594342	0.88[EUR][1000 genomes]
rs7118033	0.84[EUR][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	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100663000-100691800	Weak transcription	Fetal Muscle Leg	muscle
2	chr11:100670000-100697400	Weak transcription	Placenta	Placenta
3	chr11:100680600-100691800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:100680800-100696400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:100681200-100698000	Weak transcription	Stomach Mucosa	stomach
6	chr11:100681400-100701000	Weak transcription	HSMM	muscle
7	chr11:100684000-100691800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:100685800-100693400	Weak transcription	Primary B cells from cord blood	blood
9	chr11:100686200-100691800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:100686200-100702800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr11:100688000-100693600	Weak transcription	Left Ventricle	heart
12	chr11:100688000-100693600	Weak transcription	Right Atrium	heart
13	chr11:100688000-100698600	Weak transcription	NH-A	brain
14	chr11:100688000-100704000	Weak transcription	Right Ventricle	heart
15	chr11:100689000-100691800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:100689000-100698600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr11:100689200-100691800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:100689200-100698200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:100689400-100691800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:100689400-100693400	Weak transcription	Psoas Muscle	Psoas
21	chr11:100689400-100694000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:100690400-100696400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:100690600-100692600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:100690800-100697200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr11:100691000-100692400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr11:100691200-100692400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr11:100691200-100693400	Weak transcription	Fetal Heart	heart
28	chr11:100691400-100692600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr11:100691600-100692200	Enhancers	H9 Cell Line	embryonic stem cell
30	chr11:100691600-100692800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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