Variant report

Variant	rs3012131
Chromosome Location	chr13:49649025-49649026
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1407828	1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2025315	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs3012137	1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs61158798	1.00[AFR][1000 genomes]
rs7992530	1.00[YRI][hapmap]
rs9568165	1.00[MKK][hapmap];1.00[YRI][hapmap]

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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv455882	chr13:49531551-49679157	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv561593	chr13:49531551-49679157	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv1793883	chr13:49543723-49789164	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv1803100	chr13:49576474-49655941	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49582200-49659000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr13:49584200-49649200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr13:49592800-49649600	Weak transcription	Fetal Intestine Large	intestine
4	chr13:49598000-49650200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr13:49599000-49649200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr13:49601800-49660600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:49603200-49649200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr13:49603200-49652200	Weak transcription	Dnd41	blood
9	chr13:49608800-49658800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr13:49626200-49650200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr13:49627200-49656800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr13:49627400-49656800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:49627400-49672400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr13:49628600-49656600	Weak transcription	Thymus	Thymus
15	chr13:49628800-49657000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr13:49629000-49665600	Weak transcription	Lung	lung
17	chr13:49629200-49650200	Weak transcription	Fetal Muscle Leg	muscle
18	chr13:49629600-49649400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr13:49629600-49650000	Weak transcription	Fetal Stomach	stomach
20	chr13:49629600-49665400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr13:49630000-49650600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr13:49630200-49656800	Weak transcription	Aorta	Aorta
23	chr13:49630400-49664000	Weak transcription	Fetal Intestine Small	intestine
24	chr13:49632200-49664800	Weak transcription	Fetal Lung	lung
25	chr13:49635000-49650600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:49635000-49664400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr13:49636200-49650000	Weak transcription	Liver	Liver
28	chr13:49636200-49652800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr13:49636800-49650000	Weak transcription	NH-A	brain
30	chr13:49636800-49652800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr13:49636800-49667800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr13:49637000-49649200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr13:49637000-49649400	Weak transcription	NHDF-Ad	bronchial
34	chr13:49637000-49649600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr13:49637000-49650000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr13:49637800-49649200	Weak transcription	K562	blood
37	chr13:49637800-49656200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr13:49638600-49650600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr13:49638800-49656400	Weak transcription	HMEC	breast
40	chr13:49639000-49650800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr13:49639000-49656400	Weak transcription	NHEK	skin
42	chr13:49639200-49650600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr13:49639400-49651000	Weak transcription	Left Ventricle	heart
44	chr13:49639600-49656800	Weak transcription	Gastric	stomach
45	chr13:49639600-49656800	Weak transcription	Ovary	ovary
46	chr13:49639600-49687200	Weak transcription	Pancreas	Pancrea
47	chr13:49639800-49650800	Weak transcription	Hela-S3	cervix
48	chr13:49640200-49650600	Weak transcription	Fetal Thymus	thymus
49	chr13:49640400-49649600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr13:49640600-49683800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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