Variant report

Variant	rs2031998
Chromosome Location	chr13:30783452-30783453
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12585819	0.83[ASN][1000 genomes]
rs12866391	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12870695	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17632858	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs2149970	1.00[ASN][1000 genomes]
rs2149971	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2149973	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs28805029	0.91[ASN][1000 genomes]
rs35331241	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35963596	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3803272	1.00[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs3825532	0.82[YRI][hapmap];0.86[ASN][1000 genomes]
rs3825533	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61946958	0.93[EUR][1000 genomes]
rs7328946	0.85[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7331974	0.82[YRI][hapmap]
rs7987688	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9550538	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs9550539	1.00[CHB][hapmap];0.83[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];0.86[ASN][1000 genomes]
rs9550540	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9550541	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9551867	0.90[CHB][hapmap]
rs9551868	0.81[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9551875	0.95[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];0.90[TSI][hapmap];0.82[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9551879	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];0.90[TSI][hapmap];0.82[YRI][hapmap];0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9551882	0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30754000-30798800	Weak transcription	Brain Anterior Caudate	brain
2	chr13:30761600-30792800	Weak transcription	Fetal Brain Male	brain
3	chr13:30763600-30786400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr13:30764600-30790200	Weak transcription	Colon Smooth Muscle	Colon
5	chr13:30765600-30807000	Weak transcription	Gastric	stomach
6	chr13:30766200-30790400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:30766400-30804400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr13:30768000-30795000	Weak transcription	Brain Germinal Matrix	brain
9	chr13:30768600-30792600	Weak transcription	Spleen	Spleen
10	chr13:30768600-30798800	Weak transcription	HMEC	breast
11	chr13:30769000-30796400	Weak transcription	A549	lung
12	chr13:30769800-30790400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:30770000-30790400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr13:30770000-30790400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr13:30770000-30799200	Weak transcription	HSMMtube	muscle
16	chr13:30770400-30784400	Weak transcription	Psoas Muscle	Psoas
17	chr13:30770400-30786400	Weak transcription	Fetal Brain Female	brain
18	chr13:30770400-30790400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr13:30770600-30786000	Weak transcription	Fetal Stomach	stomach
20	chr13:30770600-30786400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr13:30770600-30790400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr13:30770600-30796200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr13:30770600-30803200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr13:30771200-30790200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr13:30771200-30790400	Weak transcription	Right Ventricle	heart
26	chr13:30771800-30794800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr13:30772400-30796400	Weak transcription	NHEK	skin
28	chr13:30773400-30790400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr13:30774000-30796400	Weak transcription	Liver	Liver
30	chr13:30774200-30790400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr13:30774200-30796000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr13:30774400-30787200	Strong transcription	Dnd41	blood
33	chr13:30774400-30812600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr13:30774600-30790400	Weak transcription	Aorta	Aorta
35	chr13:30774600-30790400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr13:30774600-30795800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr13:30774600-30802800	Weak transcription	Lung	lung
38	chr13:30774600-30805200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:30775000-30790600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr13:30775000-30803000	Weak transcription	Esophagus	oesophagus
41	chr13:30775400-30783600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr13:30775600-30796600	Weak transcription	Fetal Kidney	kidney
43	chr13:30775800-30796600	Weak transcription	K562	blood
44	chr13:30776000-30790200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr13:30776000-30790400	Weak transcription	Brain Hippocampus Middle	brain
46	chr13:30776200-30790400	Weak transcription	Left Ventricle	heart
47	chr13:30777000-30790200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr13:30777200-30796400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr13:30777200-30799000	Weak transcription	Brain Angular Gyrus	brain
50	chr13:30778000-30790600	Weak transcription	Monocytes-CD14+_RO01746	blood

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