Variant report

Variant	rs6724378
Chromosome Location	chr2:182237105-182237106
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12616646	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1371621	0.85[ASN][1000 genomes]
rs6734093	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6737765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs908079	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv834476	chr2:182179249-182360259	Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182233200-182237200	Weak transcription	Fetal Kidney	kidney
2	chr2:182234000-182238200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:182234400-182238400	Enhancers	Dnd41	blood
4	chr2:182235000-182237400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:182235000-182237600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:182235400-182237800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:182235600-182237600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:182235600-182238000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:182235600-182240600	Enhancers	HSMMtube	muscle
10	chr2:182235800-182237400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr2:182235800-182237600	Enhancers	Primary T cells from cord blood	blood
12	chr2:182235800-182237600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:182235800-182237800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr2:182235800-182237800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr2:182235800-182238000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr2:182235800-182238000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr2:182235800-182238000	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr2:182235800-182238000	Enhancers	HUVEC	blood vessel
19	chr2:182235800-182238200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:182235800-182238200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:182235800-182238400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:182235800-182238400	Enhancers	Fetal Thymus	thymus
23	chr2:182235800-182238400	Enhancers	HSMM	muscle
24	chr2:182236000-182237200	Enhancers	Small Intestine	intestine
25	chr2:182236000-182237400	Enhancers	NHLF	lung
26	chr2:182236000-182237600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:182236000-182237800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr2:182236000-182237800	Enhancers	Stomach Smooth Muscle	stomach
29	chr2:182236000-182237800	Enhancers	Thymus	Thymus
30	chr2:182236000-182238000	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr2:182236000-182238000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:182236000-182238200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:182236000-182238400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:182236000-182238400	Enhancers	Fetal Stomach	stomach
35	chr2:182236000-182238600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:182236000-182238800	Enhancers	NHDF-Ad	bronchial
37	chr2:182236000-182239000	Enhancers	Primary hematopoietic stem cells	blood
38	chr2:182236200-182237400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr2:182236200-182237600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:182236200-182238000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:182236400-182237600	Enhancers	Primary B cells from peripheral blood	blood
42	chr2:182236400-182237600	Enhancers	Adipose Nuclei	Adipose
43	chr2:182236400-182237600	Enhancers	NH-A	brain
44	chr2:182236400-182238000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:182236600-182237600	Enhancers	Osteobl	bone
46	chr2:182236600-182239800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:182236800-182237400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr2:182236800-182237400	Enhancers	GM12878-XiMat	blood
49	chr2:182236800-182237600	Enhancers	Fetal Muscle Leg	muscle
50	chr2:182236800-182241200	Weak transcription	Duodenum Mucosa	Duodenum

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