Variant report

Variant	rs17347173
Chromosome Location	chr7:18394180-18394181
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17347060	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17418779	0.85[AMR][1000 genomes]
rs17418786	0.85[AMR][1000 genomes]
rs17418807	0.85[AMR][1000 genomes]
rs17419107	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17663430	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs17663510	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs17674701	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs17731016	0.85[AMR][1000 genomes]
rs17731305	0.85[AMR][1000 genomes]
rs7795469	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs973343	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv606358	chr7:18084843-18416097	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv830916	chr7:18254299-18433349	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18384800-18395400	Weak transcription	Adipose Nuclei	Adipose
2	chr7:18385600-18401600	Weak transcription	Aorta	Aorta
3	chr7:18387400-18409800	Weak transcription	Primary B cells from cord blood	blood
4	chr7:18387600-18395200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr7:18390600-18395800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:18392200-18394800	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr7:18392200-18396400	Enhancers	Fetal Heart	heart
8	chr7:18392400-18394200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:18392400-18394400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:18392600-18395200	Weak transcription	HUVEC	blood vessel
11	chr7:18392600-18395400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:18392600-18395600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:18392600-18396000	Weak transcription	NH-A	brain
14	chr7:18392800-18395400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:18392800-18395800	Weak transcription	NHDF-Ad	bronchial
16	chr7:18392800-18401200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:18393000-18395600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:18393400-18395400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr7:18393400-18395400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:18393600-18395600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:18393800-18394400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:18393800-18394600	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr7:18393800-18396000	Weak transcription	Fetal Kidney	kidney
24	chr7:18393800-18396000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:18394000-18395400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr7:18394000-18395400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:18394000-18395400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr7:18394000-18396400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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