Variant report

Variant	rs17347842
Chromosome Location	chr7:18533930-18533931
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	EP300	chr7:18533159-18540304	SK-N-SH	brain:	n/a	chr7:18533882-18533891 chr7:18539770-18539777 chr7:18534979-18534993 chr7:18534489-18534503 chr7:18536954-18536964 chr7:18534984-18534998 chr7:18538576-18538586 chr7:18534027-18534041
2	MXI1	chr7:18533762-18538995	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
HDAC9	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17139311	1.00[CEU][hapmap]
rs56161341	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv2755157	chr7:18337660-18805860	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18511600-18534600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:18527200-18534800	Weak transcription	Psoas Muscle	Psoas
3	chr7:18528200-18534400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:18528400-18534400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:18528600-18534000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:18528600-18534400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr7:18528600-18534400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:18530400-18534800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:18530600-18534000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:18530600-18534600	Weak transcription	Primary B cells from cord blood	blood
11	chr7:18531400-18534600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:18531800-18534200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr7:18531800-18534800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr7:18533400-18534000	Enhancers	Fetal Heart	heart
15	chr7:18533600-18534600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr7:18533600-18534600	Enhancers	Fetal Brain Male	brain
17	chr7:18533800-18534000	Enhancers	Fetal Muscle Leg	muscle
18	chr7:18533800-18534400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr7:18533800-18534600	Enhancers	Fetal Brain Female	brain
20	chr7:18533800-18534800	Enhancers	Brain Cingulate Gyrus	brain
21	chr7:18533800-18534800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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