Variant report

Variant	rs59959562
Chromosome Location	chr2:148931073-148931074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11903941	1.00[AMR][1000 genomes]
rs17232015	1.00[AMR][1000 genomes]
rs17232022	1.00[AMR][1000 genomes]
rs57219455	1.00[AMR][1000 genomes]
rs57687744	1.00[AMR][1000 genomes]
rs73003455	1.00[AMR][1000 genomes]
rs73003466	1.00[AMR][1000 genomes]
rs73003478	1.00[AMR][1000 genomes]
rs73005148	1.00[AMR][1000 genomes]
rs73005150	1.00[AMR][1000 genomes]
rs73005154	1.00[AMR][1000 genomes]
rs73005176	1.00[AMR][1000 genomes]
rs73007121	1.00[AMR][1000 genomes]
rs73007132	1.00[AMR][1000 genomes]
rs73007149	1.00[AMR][1000 genomes]
rs73007180	1.00[AMR][1000 genomes]
rs73007183	1.00[AMR][1000 genomes]
rs73007189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73009207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73009239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73009272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73009282	1.00[AFR][1000 genomes]
rs73009297	1.00[AFR][1000 genomes]
rs73011215	1.00[AFR][1000 genomes]
rs73011217	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1002358	chr2:148703807-148942372	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1007683	chr2:148717347-148942372	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535971	chr2:148717347-148942372	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1000852	chr2:148730825-148934986	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv535972	chr2:148730825-148934986	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv916766	chr2:148743880-148955720	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1001339	chr2:148755022-149020866	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv535977	chr2:148755022-149020866	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv869146	chr2:148787051-149060763	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv875276	chr2:148844369-148996824	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1004431	chr2:148859099-149054114	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv997674	chr2:148862630-148995570	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1007998	chr2:148866051-148995570	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv999952	chr2:148884787-148938697	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	nsv1009608	chr2:148897348-149133718	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148906000-148937000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:148911400-148942400	Weak transcription	Ovary	ovary
3	chr2:148913000-148977600	Weak transcription	Aorta	Aorta
4	chr2:148914800-148936000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:148915000-148937000	Weak transcription	Adipose Nuclei	Adipose
6	chr2:148916800-148938600	Weak transcription	Primary B cells from cord blood	blood
7	chr2:148917800-148937200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:148918800-148938000	Weak transcription	Fetal Lung	lung
9	chr2:148919800-148945800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:148920000-148937000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:148924200-148941800	Weak transcription	Brain Angular Gyrus	brain
12	chr2:148924400-148938000	Weak transcription	Fetal Kidney	kidney
13	chr2:148924400-148946400	Weak transcription	HSMMtube	muscle
14	chr2:148924600-148936400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:148924600-148946800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:148925200-148959000	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:148925400-148936200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:148926000-148938000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:148927000-148940400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:148927200-148942600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:148927400-148942000	Weak transcription	HMEC	breast
22	chr2:148928200-148945400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:148928400-148943800	Weak transcription	Fetal Brain Female	brain
24	chr2:148928400-148944600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:148928600-148993600	Weak transcription	HSMM	muscle
26	chr2:148928800-148945600	Weak transcription	Primary T cells from cord blood	blood
27	chr2:148929000-148937800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:148929400-148931200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
29	chr2:148929400-148941000	Weak transcription	NHLF	lung
30	chr2:148929600-148931200	ZNF genes & repeats	Fetal Intestine Small	intestine
31	chr2:148929600-148944800	Weak transcription	Osteobl	bone
32	chr2:148929800-148944400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:148929800-148960800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:148930000-148931200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:148930000-148938000	Weak transcription	Left Ventricle	heart
36	chr2:148930400-148931200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:148930400-148931200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:148930600-148931200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:148930600-148931200	ZNF genes & repeats	Fetal Muscle Leg	muscle
40	chr2:148930600-148946000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:148930800-148931200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:148930800-148931200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:148930800-148931200	ZNF genes & repeats	Fetal Intestine Large	intestine
44	chr2:148930800-148931200	ZNF genes & repeats	Pancreas	Pancrea
45	chr2:148930800-148948200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:148931000-148931200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:148931000-148936800	Weak transcription	Fetal Thymus	thymus
48	chr2:148931000-148937800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:148931000-148938000	Weak transcription	Thymus	Thymus
50	chr2:148931000-148942400	Weak transcription	Fetal Stomach	stomach

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