Variant report

Variant	rs2048608
Chromosome Location	chr12:26127230-26127231
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16929805	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16929850	1.00[CEU][hapmap];0.83[TSI][hapmap];0.94[EUR][1000 genomes]
rs58597112	0.92[EUR][1000 genomes]
rs59714345	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914180	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61914181	0.98[EUR][1000 genomes]
rs61914182	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914183	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914184	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914187	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914211	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914212	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914216	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7963582	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7965337	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7965449	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv433521	chr12:26127230-26132785	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv517117	chr12:26127230-26133925	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv522351	chr12:26127230-26149703	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26113400-26128800	Weak transcription	HSMM	muscle
2	chr12:26114000-26128000	Weak transcription	Fetal Intestine Small	intestine
3	chr12:26115000-26127800	Weak transcription	Fetal Kidney	kidney
4	chr12:26117200-26130200	Weak transcription	Fetal Heart	heart
5	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
6	chr12:26118400-26131600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:26119600-26130200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:26120000-26127400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:26121000-26131600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:26121200-26129600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:26122400-26128200	Enhancers	Osteobl	bone
12	chr12:26123400-26129400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:26123800-26128800	Weak transcription	Spleen	Spleen
14	chr12:26123800-26129000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:26123800-26129200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:26123800-26134000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:26123800-26134200	Weak transcription	Gastric	stomach
18	chr12:26123800-26137200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:26124200-26129400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:26124400-26128800	Weak transcription	Esophagus	oesophagus
21	chr12:26124400-26128800	Enhancers	NHDF-Ad	bronchial
22	chr12:26124400-26138000	Weak transcription	Fetal Intestine Large	intestine
23	chr12:26124800-26127600	Weak transcription	HUVEC	blood vessel
24	chr12:26124800-26129200	Enhancers	Colon Smooth Muscle	Colon
25	chr12:26124800-26130800	Weak transcription	Fetal Lung	lung
26	chr12:26125000-26128600	Weak transcription	Adipose Nuclei	Adipose
27	chr12:26125000-26129000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:26125000-26130800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:26125000-26138600	Weak transcription	Pancreas	Pancrea
30	chr12:26125200-26128000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:26125800-26129000	Enhancers	Brain Hippocampus Middle	brain
32	chr12:26125800-26129600	Enhancers	Right Atrium	heart
33	chr12:26126000-26127600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:26126200-26127400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr12:26126200-26127800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr12:26126200-26128000	Weak transcription	NH-A	brain
37	chr12:26126200-26128200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:26126400-26127400	Enhancers	Psoas Muscle	Psoas
39	chr12:26126400-26128200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:26126400-26129200	Weak transcription	NHLF	lung
41	chr12:26126400-26132200	Weak transcription	HMEC	breast
42	chr12:26126600-26127600	Weak transcription	Brain Anterior Caudate	brain
43	chr12:26126600-26127600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:26126600-26128800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:26126600-26129000	Enhancers	Stomach Smooth Muscle	stomach
46	chr12:26126800-26127600	Weak transcription	Right Ventricle	heart
47	chr12:26126800-26127800	Weak transcription	Brain Substantia Nigra	brain
48	chr12:26126800-26128000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr12:26126800-26128600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr12:26126800-26128600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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