Variant report

Variant	rs57086836
Chromosome Location	chr2:54859162-54859163
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	chr2:54783680..54786124-chr2:54856924..54860334,3	K562	blood:

Variant related genes	Relation type
ENSG00000115306	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58204287	0.82[AFR][1000 genomes]
rs58920119	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58987524	0.85[AFR][1000 genomes]
rs59061110	0.81[AFR][1000 genomes]
rs60293507	0.89[AFR][1000 genomes]
rs60542617	0.82[AFR][1000 genomes]
rs6740921	0.82[AFR][1000 genomes]
rs7570695	0.89[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54829800-54859800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:54838800-54860200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:54838800-54893400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:54839000-54864200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr2:54839200-54861800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:54839200-54866000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:54839400-54895000	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:54839600-54862600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr2:54840800-54861400	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:54841000-54861400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:54841000-54861400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:54841200-54861200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:54841200-54897800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:54841800-54860000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:54841800-54860000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:54842000-54863600	Strong transcription	Fetal Brain Female	brain
17	chr2:54842400-54861400	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:54842400-54862800	Strong transcription	NHEK	skin
19	chr2:54842600-54861000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:54842600-54892000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:54842800-54862400	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr2:54842800-54867800	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr2:54843000-54861400	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:54844400-54860000	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr2:54846000-54860800	Strong transcription	Primary hematopoietic stem cells	blood
26	chr2:54846200-54861400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:54846200-54864400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:54846400-54859600	Strong transcription	Osteobl	bone
29	chr2:54846400-54860800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr2:54846400-54895600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:54846400-54896600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:54846600-54859800	Strong transcription	Rectal Smooth Muscle	rectum
33	chr2:54846600-54860600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:54846600-54860800	Strong transcription	Primary B cells from cord blood	blood
35	chr2:54846600-54860800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:54846600-54861000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:54846600-54861800	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr2:54846600-54898000	Strong transcription	Dnd41	blood
39	chr2:54846800-54860000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:54846800-54860000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:54846800-54860000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr2:54846800-54860200	Strong transcription	Primary T cells from cord blood	blood
43	chr2:54846800-54860200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:54846800-54860600	Strong transcription	Thymus	Thymus
45	chr2:54846800-54895400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:54847000-54859600	Strong transcription	HUVEC	blood vessel
47	chr2:54847000-54860200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:54847000-54860400	Strong transcription	Brain Germinal Matrix	brain
49	chr2:54847000-54860800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr2:54847200-54860600	Strong transcription	ES-I3 Cell Line	embryonic stem cell

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