Variant report

Variant	rs9515177
Chromosome Location	chr13:110912634-110912635
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12020579	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2305079	1.00[ASW][hapmap]
rs35716322	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9515167	1.00[ASW][hapmap]
rs9515176	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9521671	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9521672	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9521673	0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9634591	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052147	chr13:110765635-110917782	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9515177	CARKD	cis	cerebellum	SCAN
rs9515177	ZNF335	trans	parietal	SCAN
rs9515177	DBC1	trans	cerebellum	SCAN

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110882600-110913600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr13:110884800-110914000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:110897800-110914200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr13:110897800-110914800	Weak transcription	Stomach Mucosa	stomach
5	chr13:110900000-110916200	Weak transcription	A549	lung
6	chr13:110900400-110913600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr13:110900600-110913600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr13:110901000-110913600	Weak transcription	Fetal Intestine Large	intestine
9	chr13:110901000-110919400	Weak transcription	Fetal Brain Male	brain
10	chr13:110903000-110914000	Weak transcription	Fetal Intestine Small	intestine
11	chr13:110904200-110913600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:110904200-110914200	Weak transcription	Esophagus	oesophagus
13	chr13:110904200-110918200	Weak transcription	Pancreas	Pancrea
14	chr13:110906800-110914200	Weak transcription	Fetal Lung	lung
15	chr13:110906800-110915000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr13:110907400-110913600	Weak transcription	Fetal Kidney	kidney
17	chr13:110907800-110913400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr13:110907800-110913400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr13:110907800-110913600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr13:110908800-110913600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr13:110909000-110913600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr13:110909000-110914800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr13:110909200-110912800	Weak transcription	Placenta	Placenta
24	chr13:110909200-110913400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr13:110909200-110913600	Weak transcription	Spleen	Spleen
26	chr13:110909200-110917800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:110910000-110913400	Weak transcription	Fetal Heart	heart
28	chr13:110910200-110914000	Weak transcription	Fetal Stomach	stomach
29	chr13:110910200-110914000	Weak transcription	Ovary	ovary
30	chr13:110911200-110913400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr13:110911200-110913800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr13:110911200-110915200	Enhancers	Adipose Nuclei	Adipose
33	chr13:110911200-110915800	Enhancers	NHEK	skin
34	chr13:110911200-110917200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr13:110911200-110924000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr13:110911400-110912800	Enhancers	Osteobl	bone
37	chr13:110911600-110916200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr13:110911800-110913800	Weak transcription	HSMMtube	muscle
39	chr13:110911800-110918800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr13:110912000-110913000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr13:110912000-110913000	Enhancers	NH-A	brain
42	chr13:110912000-110913800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr13:110912000-110914000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr13:110912000-110914400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr13:110912200-110912800	Enhancers	Lung	lung
46	chr13:110912200-110912800	Enhancers	Right Atrium	heart
47	chr13:110912200-110912800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr13:110912200-110913000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr13:110912200-110913000	Enhancers	Aorta	Aorta
50	chr13:110912200-110913000	Genic enhancers	Fetal Muscle Leg	muscle

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