Variant report

Variant	rs7988985
Chromosome Location	chr13:110890656-110890657
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11842085	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11843610	0.89[EUR][1000 genomes]
rs34808582	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41275104	0.82[EUR][1000 genomes]
rs41275106	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs475520	0.90[EUR][1000 genomes]
rs536195	0.88[EUR][1000 genomes]
rs55698841	0.89[EUR][1000 genomes]
rs56066148	0.82[EUR][1000 genomes]
rs56081954	0.82[EUR][1000 genomes]
rs56116457	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs56152426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56366911	0.82[EUR][1000 genomes]
rs604733	0.89[EUR][1000 genomes]
rs61963293	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61963294	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61963295	0.90[EUR][1000 genomes]
rs61963301	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61963304	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61963305	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61963306	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61963307	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61963326	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61963327	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6492249	0.90[EUR][1000 genomes]
rs6492250	0.90[EUR][1000 genomes]
rs6492251	0.90[EUR][1000 genomes]
rs656034	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679248	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68079483	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7318128	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7318692	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7319995	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7320618	0.89[EUR][1000 genomes]
rs7331362	0.90[EUR][1000 genomes]
rs7332643	0.89[EUR][1000 genomes]
rs7332644	0.89[EUR][1000 genomes]
rs7989246	0.90[EUR][1000 genomes]
rs7989549	0.90[EUR][1000 genomes]
rs7995509	0.90[EUR][1000 genomes]
rs7995601	0.88[EUR][1000 genomes]
rs7995873	0.88[EUR][1000 genomes]
rs7996908	0.89[EUR][1000 genomes]
rs7999378	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7999607	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7999790	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9583474	0.82[EUR][1000 genomes]
rs9588121	0.95[EUR][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

No data

Chromatin state (count:68 , 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	chr13:110881400-110894800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr13:110881400-110899800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr13:110881600-110900600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:110882400-110900400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr13:110882600-110898800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr13:110882600-110899600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr13:110882600-110913600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr13:110882800-110900600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr13:110883200-110895000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:110884200-110902200	Weak transcription	HMEC	breast
12	chr13:110884600-110902400	Weak transcription	NHEK	skin
13	chr13:110884800-110914000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:110885200-110899000	Weak transcription	Fetal Intestine Large	intestine
15	chr13:110885800-110891000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:110886400-110891200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr13:110886600-110896000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr13:110888400-110892400	Enhancers	Colon Smooth Muscle	Colon
19	chr13:110888400-110896800	Strong transcription	Osteobl	bone
20	chr13:110888600-110891000	Genic enhancers	NHLF	lung
21	chr13:110888800-110890800	Genic enhancers	Fetal Muscle Leg	muscle
22	chr13:110888800-110890800	Enhancers	Right Atrium	heart
23	chr13:110888800-110890800	Genic enhancers	HSMM	muscle
24	chr13:110888800-110891400	Enhancers	Psoas Muscle	Psoas
25	chr13:110888800-110892000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr13:110888800-110892200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr13:110888800-110892400	Enhancers	Rectal Smooth Muscle	rectum
28	chr13:110888800-110893000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr13:110888800-110893800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr13:110888800-110894600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr13:110889000-110891000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr13:110889000-110892200	Enhancers	Fetal Lung	lung
33	chr13:110889200-110891800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:110889400-110891000	Weak transcription	Liver	Liver
35	chr13:110889400-110893800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr13:110889400-110893800	Enhancers	Right Ventricle	heart
37	chr13:110889600-110891200	Enhancers	Fetal Intestine Small	intestine
38	chr13:110889600-110892400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr13:110889600-110892600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr13:110889600-110892600	Weak transcription	Ovary	ovary
41	chr13:110889600-110892800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr13:110889600-110900400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr13:110889600-110900600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr13:110889600-110904200	Enhancers	NHDF-Ad	bronchial
45	chr13:110889800-110892000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:110889800-110892600	Weak transcription	Lung	lung
47	chr13:110889800-110892600	Weak transcription	Spleen	Spleen
48	chr13:110889800-110892800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr13:110889800-110896800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr13:110890000-110890800	Weak transcription	Small Intestine	intestine

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