Variant report

Variant	rs3783107
Chromosome Location	chr13:110842102-110842103
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1000989	0.87[CEU][hapmap];0.80[AMR][1000 genomes]
rs1000990	0.80[AMR][1000 genomes]
rs1562173	0.87[CEU][hapmap];0.80[AMR][1000 genomes]
rs1562174	0.88[CEU][hapmap];0.80[AMR][1000 genomes]
rs16975472	0.80[AMR][1000 genomes]
rs16975491	0.82[AMR][1000 genomes]
rs16975492	0.87[CEU][hapmap];0.82[AMR][1000 genomes]
rs1891964	0.80[AMR][1000 genomes]
rs1975514	0.87[CEU][hapmap];0.80[AMR][1000 genomes]
rs1977892	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1977893	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2005447	0.87[CEU][hapmap];0.80[AMR][1000 genomes]
rs2131937	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2131938	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2172725	0.92[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2278673	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2289799	0.87[CEU][hapmap]
rs2305080	0.91[CEU][hapmap];0.91[CHB][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2391815	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2391816	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2391817	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3783105	0.81[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783106	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783111	0.92[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3783113	0.92[CEU][hapmap];0.81[CHB][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs503053	0.83[CEU][hapmap]
rs644582	0.81[JPT][hapmap]
rs7325512	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7326444	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7329411	0.92[CEU][hapmap];0.81[CHB][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs874203	0.87[CEU][hapmap]
rs9515160	0.86[CEU][hapmap];0.82[AMR][1000 genomes]
rs9515161	0.82[AMR][1000 genomes]
rs9521632	0.82[AMR][1000 genomes]
rs9521633	0.81[AMR][1000 genomes]
rs9521634	0.82[AMR][1000 genomes]
rs9521636	0.88[CEU][hapmap];0.82[CHB][hapmap];0.80[AMR][1000 genomes]
rs9521637	0.81[AMR][1000 genomes]
rs9521638	0.92[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9588108	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][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	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	nsv456116	chr13:110818598-110856153	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv563101	chr13:110818598-110856153	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1182	chr13:110829691-110875029	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110791400-110868400	Weak transcription	Psoas Muscle	Psoas
2	chr13:110798800-110853200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:110802400-110842800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr13:110806600-110860400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr13:110810200-110866400	Strong transcription	Stomach Smooth Muscle	stomach
6	chr13:110826400-110868200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr13:110826600-110858600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr13:110826600-110866200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:110826800-110847200	Strong transcription	Aorta	Aorta
10	chr13:110826800-110868000	Weak transcription	Brain Anterior Caudate	brain
11	chr13:110827000-110849200	Strong transcription	Fetal Stomach	stomach
12	chr13:110827600-110844200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr13:110827600-110869000	Weak transcription	Brain Hippocampus Middle	brain
14	chr13:110829000-110865000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr13:110829600-110874400	Weak transcription	A549	lung
16	chr13:110829800-110869600	Weak transcription	Small Intestine	intestine
17	chr13:110830000-110870800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr13:110830200-110869600	Weak transcription	Fetal Brain Male	brain
19	chr13:110831000-110866000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr13:110831600-110842200	Weak transcription	Liver	Liver
21	chr13:110833000-110849000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:110834600-110842800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:110834600-110858400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr13:110835200-110846400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr13:110835200-110858600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr13:110835400-110866800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr13:110835600-110854600	Weak transcription	Fetal Brain Female	brain
28	chr13:110835600-110858400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr13:110835800-110846000	Weak transcription	Colonic Mucosa	Colon
30	chr13:110836200-110842600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr13:110836400-110874200	Weak transcription	Esophagus	oesophagus
32	chr13:110836600-110845000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr13:110836600-110851600	Weak transcription	Brain Germinal Matrix	brain
34	chr13:110837800-110847000	Strong transcription	Lung	lung
35	chr13:110838800-110843800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr13:110838800-110844000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr13:110838800-110844200	Weak transcription	Gastric	stomach
38	chr13:110838800-110844200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr13:110838800-110844200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr13:110838800-110849600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr13:110839000-110845800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr13:110839200-110848400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr13:110839400-110844000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr13:110839400-110844200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr13:110839800-110844200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr13:110840000-110842800	Enhancers	Fetal Heart	heart
47	chr13:110840200-110849200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:110840200-110856000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr13:110840400-110843200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr13:110840600-110843400	Weak transcription	HSMMtube	muscle

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