Variant report

Variant	rs230938
Chromosome Location	chr17:15131120-15131121
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15130830..15132706-chr17:15134137..15135681,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs230915	0.84[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs230916	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs230917	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs230934	0.85[AFR][1000 genomes]
rs230937	0.89[AFR][1000 genomes]
rs230943	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066329	chr17:14983674-15294071	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543212	chr17:14983674-15294071	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15124000-15136000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr17:15124200-15132200	Weak transcription	Fetal Muscle Leg	muscle
3	chr17:15124200-15132400	Weak transcription	Ovary	ovary
4	chr17:15124200-15132400	Weak transcription	HSMMtube	muscle
5	chr17:15124400-15131600	Weak transcription	Adipose Nuclei	Adipose
6	chr17:15124400-15131800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr17:15124400-15131800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr17:15124400-15131800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr17:15124400-15132200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr17:15124400-15132600	Weak transcription	Osteobl	bone
11	chr17:15124600-15131600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr17:15125000-15131800	Weak transcription	NHDF-Ad	bronchial
13	chr17:15127200-15132600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr17:15127800-15132600	Weak transcription	Aorta	Aorta
15	chr17:15128000-15131800	Weak transcription	Fetal Stomach	stomach
16	chr17:15128000-15132800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr17:15128600-15132600	Weak transcription	Fetal Heart	heart
18	chr17:15128800-15133400	Weak transcription	NH-A	brain
19	chr17:15129200-15132400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr17:15129400-15132200	Weak transcription	Fetal Intestine Large	intestine
21	chr17:15129800-15131600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr17:15130000-15131600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr17:15130000-15131600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr17:15130000-15131600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr17:15130200-15131800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr17:15130200-15132000	Weak transcription	Colon Smooth Muscle	Colon
27	chr17:15130200-15132400	Weak transcription	NHLF	lung
28	chr17:15130400-15131600	Weak transcription	Right Ventricle	heart
29	chr17:15130400-15132800	Weak transcription	Fetal Lung	lung
30	chr17:15130600-15131800	Weak transcription	Brain Hippocampus Middle	brain
31	chr17:15130600-15132200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr17:15130600-15132400	Weak transcription	HUVEC	blood vessel
33	chr17:15130600-15135000	Weak transcription	Spleen	Spleen
34	chr17:15130600-15135600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr17:15130600-15135600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr17:15130800-15132400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr17:15130800-15132600	Weak transcription	Brain Anterior Caudate	brain
38	chr17:15130800-15132600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr17:15131000-15132600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr17:15131000-15132600	Weak transcription	Gastric	stomach
41	chr17:15131000-15132600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr17:15131000-15132800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr17:15131000-15132800	Weak transcription	A549	lung
44	chr17:15131000-15133200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr17:15131000-15134200	Strong transcription	HSMM	muscle

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