Variant report

Variant	rs893254
Chromosome Location	chr2:209190519-209190520
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:209188864..209190973-chr2:209192506..209194308,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10186531	0.83[AFR][1000 genomes]
rs10197824	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10197951	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10208191	0.80[AFR][1000 genomes]
rs10210393	0.83[AFR][1000 genomes]
rs11695873	0.80[AFR][1000 genomes]
rs12617521	0.83[AFR][1000 genomes]
rs12618837	0.80[AFR][1000 genomes]
rs1437414	0.83[AFR][1000 genomes]
rs1465803	0.80[AFR][1000 genomes]
rs1465804	0.80[AFR][1000 genomes]
rs1529976	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1529979	0.83[AFR][1000 genomes]
rs1561240	0.80[AFR][1000 genomes]
rs1866044	0.83[AFR][1000 genomes]
rs1866045	0.83[AFR][1000 genomes]
rs2118295	0.80[AFR][1000 genomes]
rs2118296	0.80[AFR][1000 genomes]
rs2118297	0.80[AFR][1000 genomes]
rs2363468	0.83[AFR][1000 genomes]
rs2363469	0.82[AFR][1000 genomes]
rs2363579	0.82[AFR][1000 genomes]
rs4675754	0.83[AFR][1000 genomes]
rs4675755	0.83[AFR][1000 genomes]
rs4675757	0.80[AFR][1000 genomes]
rs4675758	0.80[AFR][1000 genomes]
rs6435444	0.83[AFR][1000 genomes]
rs6435445	0.84[AFR][1000 genomes]
rs6435446	0.83[AFR][1000 genomes]
rs6435450	0.82[AFR][1000 genomes]
rs6435452	0.80[AFR][1000 genomes]
rs6435454	0.80[AFR][1000 genomes]
rs6713477	0.83[AFR][1000 genomes]
rs6718402	0.83[AFR][1000 genomes]
rs6721780	0.80[AFR][1000 genomes]
rs6725932	0.80[AFR][1000 genomes]
rs6751982	0.82[AFR][1000 genomes]
rs893253	0.86[AFR][1000 genomes]
rs893255	0.83[AFR][1000 genomes]
rs9646839	0.80[AFR][1000 genomes]
rs976247	0.83[AFR][1000 genomes]
rs994696	0.80[AFR][1000 genomes]
rs994697	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv875752	chr2:209141066-209235373	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209147400-209225600	Weak transcription	Stomach Mucosa	stomach
2	chr2:209165800-209204000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:209179000-209190600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:209179000-209220600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:209180600-209224600	Strong transcription	Fetal Thymus	thymus
6	chr2:209182400-209224200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:209183200-209193800	Weak transcription	Fetal Brain Male	brain
8	chr2:209184600-209201400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:209185600-209224000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:209186200-209194000	Weak transcription	Fetal Heart	heart
11	chr2:209188000-209201000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:209188400-209213400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:209188400-209221400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:209188400-209223400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr2:209188600-209214200	Strong transcription	Placenta	Placenta
16	chr2:209188800-209190600	Strong transcription	HMEC	breast
17	chr2:209188800-209190800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr2:209188800-209190800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr2:209188800-209191000	Strong transcription	Brain Germinal Matrix	brain
20	chr2:209188800-209191200	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr2:209188800-209191200	Strong transcription	Fetal Lung	lung
22	chr2:209188800-209191200	Strong transcription	Gastric	stomach
23	chr2:209188800-209191200	Strong transcription	Thymus	Thymus
24	chr2:209188800-209191400	Strong transcription	Colon Smooth Muscle	Colon
25	chr2:209188800-209191400	Strong transcription	Fetal Brain Female	brain
26	chr2:209188800-209191400	Strong transcription	Fetal Kidney	kidney
27	chr2:209188800-209191400	Strong transcription	Fetal Muscle Trunk	muscle
28	chr2:209188800-209191400	Strong transcription	Fetal Muscle Leg	muscle
29	chr2:209188800-209191400	Strong transcription	HSMMtube	muscle
30	chr2:209188800-209191600	Strong transcription	Primary T cells from cord blood	blood
31	chr2:209188800-209191600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:209188800-209191600	Strong transcription	Left Ventricle	heart
33	chr2:209188800-209191600	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr2:209188800-209191600	Strong transcription	Small Intestine	intestine
35	chr2:209188800-209191600	Strong transcription	NHLF	lung
36	chr2:209188800-209191800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:209188800-209193000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:209188800-209193200	Strong transcription	HUVEC	blood vessel
39	chr2:209188800-209193800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:209188800-209194000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:209188800-209194000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:209188800-209195800	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr2:209188800-209195800	Strong transcription	NHDF-Ad	bronchial
44	chr2:209188800-209196000	Strong transcription	HepG2	liver
45	chr2:209188800-209196200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:209188800-209196200	Strong transcription	Fetal Intestine Large	intestine
47	chr2:209188800-209196400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:209188800-209196400	Strong transcription	Duodenum Mucosa	Duodenum
49	chr2:209188800-209196600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:209188800-209197200	Strong transcription	Osteobl	bone

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