Variant report

Variant	rs13010219
Chromosome Location	chr2:96076077-96076078
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:96075502..96078062-chr2:96080565..96082450,2	K562	blood:
2	chr2:96074947..96078062-chr2:96079225..96082450,3	K562	blood:

Variant related genes	Relation type
ENSG00000248821	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs34185860	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35391246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71427025	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv998014	chr2:95913278-96296630	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv2757818	chr2:95970138-96152559	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv2759076	chr2:95970138-96152559	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv961449	chr2:96069177-96081253	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3416818	chr2:96072529-96680708	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96069000-96080200	Weak transcription	Aorta	Aorta
2	chr2:96069400-96076600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:96069400-96080600	Weak transcription	Left Ventricle	heart
4	chr2:96069400-96080800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:96069600-96076600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:96069600-96076600	Weak transcription	HSMMtube	muscle
7	chr2:96069600-96076800	Weak transcription	Spleen	Spleen
8	chr2:96069600-96076800	Weak transcription	Osteobl	bone
9	chr2:96069600-96077000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr2:96069600-96077000	Weak transcription	Fetal Thymus	thymus
11	chr2:96069600-96078600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr2:96069600-96079000	Weak transcription	Fetal Lung	lung
13	chr2:96069600-96079200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:96069600-96079400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:96069600-96079600	Weak transcription	Primary B cells from cord blood	blood
16	chr2:96069600-96080000	Weak transcription	NHLF	lung
17	chr2:96069600-96080400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:96069600-96080400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr2:96069600-96080800	Weak transcription	Ovary	ovary
20	chr2:96069600-96081200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:96069800-96076200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:96069800-96076200	Weak transcription	Brain Germinal Matrix	brain
23	chr2:96069800-96076400	Weak transcription	Small Intestine	intestine
24	chr2:96069800-96076600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:96069800-96076800	Weak transcription	NH-A	brain
26	chr2:96069800-96078200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr2:96069800-96078600	Weak transcription	HMEC	breast
28	chr2:96069800-96078800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:96069800-96079200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr2:96069800-96079400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:96069800-96080800	Weak transcription	Right Ventricle	heart
32	chr2:96069800-96081000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:96069800-96081200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:96070000-96076600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:96070000-96076600	Weak transcription	Brain Angular Gyrus	brain
36	chr2:96070000-96076800	Weak transcription	HSMM	muscle
37	chr2:96070000-96076800	Weak transcription	K562	blood
38	chr2:96070000-96077000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:96070000-96079400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:96070000-96079800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:96070000-96080000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:96070000-96080000	Weak transcription	NHEK	skin
43	chr2:96070000-96081000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:96070000-96082000	Weak transcription	Brain Anterior Caudate	brain
45	chr2:96070000-96083000	Weak transcription	Right Atrium	heart
46	chr2:96070200-96076200	Weak transcription	Fetal Brain Female	brain
47	chr2:96070200-96081000	Weak transcription	Brain Hippocampus Middle	brain
48	chr2:96070200-96081400	Weak transcription	Pancreas	Pancrea
49	chr2:96070600-96078000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr2:96070600-96078600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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