Variant report

Variant	rs2985158
Chromosome Location	chr13:38170938-38170939
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1333355	1.00[AMR][1000 genomes]
rs1333356	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs1333357	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs1333363	1.00[AMR][1000 genomes]
rs1413000	1.00[AMR][1000 genomes]
rs1475245	1.00[AMR][1000 genomes]
rs1570610	1.00[AMR][1000 genomes]
rs1577008	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs1924282	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs1924284	0.82[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1924287	1.00[AMR][1000 genomes]
rs1924294	1.00[AMR][1000 genomes]
rs1924297	1.00[AMR][1000 genomes]
rs1924305	1.00[AMR][1000 genomes]
rs1924308	1.00[AMR][1000 genomes]
rs1981057	1.00[AMR][1000 genomes]
rs2031272	1.00[AMR][1000 genomes]
rs2031273	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs2039434	0.82[YRI][hapmap]
rs2957213	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs2985157	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs2985166	1.00[AMR][1000 genomes]
rs2985171	1.00[AMR][1000 genomes]
rs2985172	1.00[AMR][1000 genomes]
rs4343144	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs4418936	1.00[AMR][1000 genomes]
rs4480663	1.00[AMR][1000 genomes]
rs4595666	1.00[AMR][1000 genomes]
rs4943530	1.00[AMR][1000 genomes]
rs6563568	1.00[AMR][1000 genomes]
rs7329237	0.82[YRI][hapmap]
rs7334202	1.00[AMR][1000 genomes]
rs7989413	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs7990804	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs8002347	1.00[AMR][1000 genomes]
rs912386	1.00[AMR][1000 genomes]
rs9285117	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs9547981	1.00[AMR][1000 genomes]
rs9547989	1.00[AMR][1000 genomes]
rs9548002	1.00[AMR][1000 genomes]
rs9548019	1.00[AMR][1000 genomes]
rs959269	1.00[AMR][1000 genomes]
rs9603229	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1038850	chr13:37820489-38209571	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv34109	chr13:37843819-38276391	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1045716	chr13:37952062-38394595	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv832583	chr13:38030752-38202000	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38139000-38171000	Weak transcription	Fetal Kidney	kidney
2	chr13:38150000-38171000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr13:38150200-38171400	Weak transcription	Colon Smooth Muscle	Colon
4	chr13:38152600-38171200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr13:38163200-38171200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr13:38165800-38182400	Weak transcription	Placenta	Placenta
7	chr13:38167600-38171200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:38168800-38171000	Enhancers	NHDF-Ad	bronchial
9	chr13:38168800-38171400	Transcr. at gene 5' and 3'	Osteobl	bone
10	chr13:38168800-38173400	Active TSS	Fetal Muscle Trunk	muscle
11	chr13:38169200-38173000	Active TSS	NH-A	brain
12	chr13:38169400-38173600	Active TSS	NHLF	lung
13	chr13:38169600-38172800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr13:38169800-38171000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr13:38169800-38171600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:38169800-38171800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr13:38169800-38171800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr13:38169800-38172600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr13:38169800-38172600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr13:38169800-38172800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:38169800-38175600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr13:38169800-38175600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr13:38170000-38171200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr13:38170000-38171600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr13:38170000-38172800	Weak transcription	HUVEC	blood vessel
26	chr13:38170400-38171200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr13:38170400-38171200	Flanking Active TSS	Fetal Lung	lung
28	chr13:38170400-38173400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr13:38170400-38173600	Active TSS	Fetal Stomach	stomach
30	chr13:38170600-38172600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr13:38170600-38173600	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr13:38170600-38174200	Active TSS	Fetal Muscle Leg	muscle
33	chr13:38170800-38171000	Active TSS	Muscle Satellite Cultured Cells	--
34	chr13:38170800-38173000	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr13:38170800-38173200	Active TSS	Right Atrium	heart

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