Variant report

Variant	rs60680980
Chromosome Location	chr2:12190249-12190250
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56787198	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60925939	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73181447	1.00[AMR][1000 genomes]
rs73181465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv999704	chr2:12153766-12243960	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1005069	chr2:12161023-12242734	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1000696	chr2:12162843-12241022	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12181600-12193200	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:12184200-12190400	Weak transcription	K562	blood
3	chr2:12185400-12190400	Weak transcription	Dnd41	blood
4	chr2:12185600-12190400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:12185600-12191200	Enhancers	Primary B cells from cord blood	blood
6	chr2:12187000-12190400	Weak transcription	NH-A	brain
7	chr2:12187000-12191800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:12187000-12191800	Enhancers	GM12878-XiMat	blood
9	chr2:12187000-12192000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:12187200-12190400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:12187600-12190400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr2:12187600-12190400	Weak transcription	Osteobl	bone
13	chr2:12187800-12190400	Weak transcription	HSMM	muscle
14	chr2:12188000-12190400	Weak transcription	HSMMtube	muscle
15	chr2:12188200-12190600	Weak transcription	HMEC	breast
16	chr2:12188600-12190800	Enhancers	Primary T cells from cord blood	blood
17	chr2:12188800-12190800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:12188800-12191200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:12188800-12196000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:12189000-12190400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:12189000-12195000	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:12189000-12196000	Weak transcription	Spleen	Spleen
23	chr2:12189000-12197200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:12189200-12190400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:12189200-12190400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr2:12189200-12190600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:12189400-12197000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:12189600-12190400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:12189600-12190600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:12189800-12190400	Enhancers	NHDF-Ad	bronchial
31	chr2:12189800-12191000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr2:12189800-12191000	Enhancers	NHLF	lung
33	chr2:12190200-12190400	Enhancers	Fetal Stomach	stomach
34	chr2:12190200-12190800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr2:12190200-12191200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr2:12190200-12191200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:12190200-12191200	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr2:12190200-12192800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr2:12190200-12193400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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