Variant report

Variant	rs7319995
Chromosome Location	chr13:110896944-110896945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11842085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11843610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34808582	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41275104	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs41275106	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs475520	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs536195	0.81[EUR][1000 genomes]
rs55698841	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56066148	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56081954	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56116457	0.85[EUR][1000 genomes]
rs56152426	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56366911	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs604733	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61963293	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61963294	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61963295	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61963301	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61963304	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61963305	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61963306	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61963307	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61963326	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61963327	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6492249	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6492250	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6492251	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs656034	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679248	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68079483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7318128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7318692	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7320618	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7331362	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7332643	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7332644	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7988985	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7989246	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7989549	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7995509	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7995601	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7995873	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7996908	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7999378	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7999607	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7999790	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9583474	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9588121	0.84[EUR][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	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
3	nsv521901	chr13:110895995-110897444	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110869000-110898800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr13:110881400-110899800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr13:110881600-110900600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:110882400-110900400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr13:110882600-110898800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr13:110882600-110899600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr13:110882600-110913600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr13:110882800-110900600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr13:110884200-110902200	Weak transcription	HMEC	breast
10	chr13:110884600-110902400	Weak transcription	NHEK	skin
11	chr13:110884800-110914000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:110885200-110899000	Weak transcription	Fetal Intestine Large	intestine
13	chr13:110889600-110900400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr13:110889600-110900600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr13:110889600-110904200	Enhancers	NHDF-Ad	bronchial
16	chr13:110890000-110897000	Strong transcription	NH-A	brain
17	chr13:110890200-110899400	Enhancers	Left Ventricle	heart
18	chr13:110890800-110901800	Enhancers	Fetal Heart	heart
19	chr13:110891400-110908600	Weak transcription	Psoas Muscle	Psoas
20	chr13:110892200-110898400	Weak transcription	Fetal Lung	lung
21	chr13:110892200-110899000	Weak transcription	Fetal Kidney	kidney
22	chr13:110892600-110897800	Genic enhancers	Fetal Muscle Leg	muscle
23	chr13:110893000-110897400	Weak transcription	Spleen	Spleen
24	chr13:110893000-110898600	Weak transcription	Gastric	stomach
25	chr13:110893200-110897400	Weak transcription	Ovary	ovary
26	chr13:110893200-110899000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr13:110893400-110897800	Strong transcription	HUVEC	blood vessel
28	chr13:110894000-110899000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr13:110894400-110900400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr13:110894600-110897200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr13:110894600-110912200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:110895000-110897000	Enhancers	Adipose Nuclei	Adipose
33	chr13:110895200-110897000	Enhancers	Stomach Smooth Muscle	stomach
34	chr13:110895200-110898000	Weak transcription	HSMMtube	muscle
35	chr13:110895200-110903800	Enhancers	Colon Smooth Muscle	Colon
36	chr13:110895400-110897800	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr13:110895400-110899000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr13:110895400-110899000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr13:110895400-110899200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr13:110895600-110897000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr13:110895600-110898000	Weak transcription	Placenta	Placenta
42	chr13:110895600-110898800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr13:110895600-110898800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr13:110895600-110903800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr13:110896000-110897600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr13:110896000-110897800	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr13:110896000-110898400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr13:110896000-110899800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr13:110896000-110900600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr13:110896000-110904400	Enhancers	NHLF	lung

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