Variant report

Variant	rs56787198
Chromosome Location	chr2:12199531-12199532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16858053	1.00[EUR][1000 genomes]
rs16858064	1.00[EUR][1000 genomes]
rs2119143	1.00[EUR][1000 genomes]
rs60680980	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60925939	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175477	1.00[EUR][1000 genomes]
rs73181447	1.00[AMR][1000 genomes]
rs73181465	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7566571	1.00[EUR][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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12194600-12200200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:12195000-12200800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:12195200-12200600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:12195400-12200600	Enhancers	Primary B cells from peripheral blood	blood
5	chr2:12195600-12200600	Enhancers	Primary hematopoietic stem cells	blood
6	chr2:12196000-12200400	Enhancers	Primary B cells from cord blood	blood
7	chr2:12196200-12200000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:12196600-12202200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:12197200-12200400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr2:12197200-12202600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:12197400-12199800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr2:12197800-12199600	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:12198000-12201400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:12198200-12200600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr2:12198400-12199600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:12198400-12199600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr2:12198400-12199600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:12198400-12199800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr2:12198400-12200000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:12198400-12200600	Enhancers	Dnd41	blood
21	chr2:12198400-12201200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:12198400-12204000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:12198600-12207200	Weak transcription	Spleen	Spleen
24	chr2:12198800-12201600	Enhancers	NHDF-Ad	bronchial
25	chr2:12198800-12203200	Enhancers	Fetal Stomach	stomach
26	chr2:12199000-12200600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:12199000-12200600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:12199000-12200600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:12199200-12199800	Enhancers	GM12878-XiMat	blood
30	chr2:12199200-12200000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr2:12199200-12200400	Enhancers	Primary T cells from cord blood	blood
32	chr2:12199200-12200800	Enhancers	Osteobl	bone
33	chr2:12199400-12199600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:12199400-12199800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:12199400-12199800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
36	chr2:12199400-12199800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:12199400-12199800	Enhancers	Esophagus	oesophagus
38	chr2:12199400-12199800	Enhancers	Fetal Muscle Trunk	muscle
39	chr2:12199400-12199800	Enhancers	Lung	lung
40	chr2:12199400-12200000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:12199400-12200000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:12199400-12200000	Flanking Active TSS	NHLF	lung
43	chr2:12199400-12200200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:12199400-12200400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:12199400-12200400	Enhancers	HSMM	muscle
46	chr2:12199400-12200400	Enhancers	HSMMtube	muscle
47	chr2:12199400-12200600	Enhancers	NH-A	brain
48	chr2:12199400-12200800	Flanking Active TSS	K562	blood
49	chr2:12199400-12201200	Enhancers	Ovary	ovary
50	chr2:12199400-12202800	Enhancers	Fetal Lung	lung

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