Variant report

Variant	rs10490284
Chromosome Location	chr2:37814827-37814828
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37810708..37813206-chr2:37814020..37815979,2	K562	blood:
2	chr2:37807890..37810236-chr2:37813003..37815246,2	K562	blood:
3	chr2:37804698..37807657-chr2:37813185..37814836,2	K562	blood:
4	chr2:37813986..37816982-chr2:37818783..37822459,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10184610	0.85[ASN][1000 genomes]
rs17021064	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2191845	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2191847	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2215605	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62134989	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719698	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6761587	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][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	nsv833814	chr2:37643132-37840247	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv456374	chr2:37669487-37868214	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv470453	chr2:37669487-37868214	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv581473	chr2:37669487-37868214	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2757793	chr2:37796654-38138939	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2759043	chr2:37796654-38138939	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv833825	chr2:37808169-37985917	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37808800-37818000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:37809400-37817600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:37809600-37816600	Enhancers	Osteobl	bone
4	chr2:37809800-37818400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:37810000-37817400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:37810000-37817600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:37810200-37815800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:37810200-37816200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:37810200-37817800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:37810400-37815800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr2:37810400-37815800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr2:37811000-37815200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:37811200-37817800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:37811400-37818400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:37811600-37817800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:37812000-37817400	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr2:37812000-37817600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:37812200-37817800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:37812400-37815000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:37812400-37815000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:37812400-37815600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:37812400-37816800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr2:37813000-37815200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:37813000-37815800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:37813000-37815800	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr2:37813000-37816000	Enhancers	Pancreas	Pancrea
27	chr2:37813000-37816200	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr2:37813000-37817800	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr2:37813200-37815600	Weak transcription	Left Ventricle	heart
30	chr2:37813200-37817400	Enhancers	HSMM	muscle
31	chr2:37813400-37817200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:37813600-37815000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr2:37813600-37815000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:37813600-37815600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:37813600-37816000	Weak transcription	Ovary	ovary
36	chr2:37813600-37817200	Weak transcription	Right Atrium	heart
37	chr2:37813600-37817400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:37813600-37818000	Enhancers	NHDF-Ad	bronchial
39	chr2:37813600-37819200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr2:37813800-37817800	Enhancers	NHEK	skin
41	chr2:37813800-37818000	Enhancers	HMEC	breast
42	chr2:37814000-37815000	Enhancers	Psoas Muscle	Psoas
43	chr2:37814000-37816000	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr2:37814000-37817400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr2:37814000-37818000	Enhancers	NH-A	brain
46	chr2:37814200-37816400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:37814200-37816400	Weak transcription	Fetal Lung	lung
48	chr2:37814200-37817400	Weak transcription	Fetal Stomach	stomach
49	chr2:37814200-37817400	Enhancers	HSMMtube	muscle
50	chr2:37814200-37819000	Weak transcription	Primary B cells from peripheral blood	blood

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