Variant report

Variant	rs10490286
Chromosome Location	chr2:37809840-37809841
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37807890..37810236-chr2:37813003..37815246,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6707072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7560087	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7560165	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv2762494	chr2:37802996-37813373	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37796600-37810200	Weak transcription	Pancreas	Pancrea
2	chr2:37799200-37812400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:37802000-37812400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:37804600-37810000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:37804600-37810200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:37804600-37810200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:37806400-37810200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:37806600-37810400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:37806800-37810000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:37808800-37818000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:37809200-37810200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:37809400-37810000	Enhancers	Aorta	Aorta
13	chr2:37809400-37810800	Enhancers	HUVEC	blood vessel
14	chr2:37809400-37811000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr2:37809400-37814600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:37809400-37814600	Enhancers	Fetal Thymus	thymus
17	chr2:37809400-37817600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:37809600-37810200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:37809600-37810200	Enhancers	GM12878-XiMat	blood
20	chr2:37809600-37810400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr2:37809600-37810400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr2:37809600-37810400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr2:37809600-37810400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:37809600-37810400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr2:37809600-37810400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:37809600-37810400	Enhancers	Brain Germinal Matrix	brain
27	chr2:37809600-37810400	Enhancers	Fetal Stomach	stomach
28	chr2:37809600-37810600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr2:37809600-37810600	Enhancers	Fetal Lung	lung
30	chr2:37809600-37810600	Enhancers	NH-A	brain
31	chr2:37809600-37810800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:37809600-37810800	Enhancers	Primary B cells from peripheral blood	blood
33	chr2:37809600-37810800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr2:37809600-37810800	Enhancers	Thymus	Thymus
35	chr2:37809600-37810800	Flanking Active TSS	NHDF-Ad	bronchial
36	chr2:37809600-37811800	Enhancers	K562	blood
37	chr2:37809600-37813200	Enhancers	HMEC	breast
38	chr2:37809600-37816600	Enhancers	Osteobl	bone
39	chr2:37809800-37810000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr2:37809800-37810000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:37809800-37810000	Flanking Active TSS	Fetal Brain Female	brain
42	chr2:37809800-37810000	Enhancers	HSMMtube	muscle
43	chr2:37809800-37810200	Active TSS	Primary T cells fromperipheralblood	blood
44	chr2:37809800-37810200	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr2:37809800-37810200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:37809800-37810200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr2:37809800-37810200	Flanking Active TSS	Fetal Muscle Leg	muscle
48	chr2:37809800-37810200	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr2:37809800-37810200	Enhancers	HSMM	muscle
50	chr2:37809800-37810200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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