Variant report

Variant	rs62183853
Chromosome Location	chr2:172932333-172932334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172930135..172933791-chr2:172934281..172936934,5	K562	blood:

Variant related genes	Relation type
ENSG00000172878	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1008152	0.89[AMR][1000 genomes]
rs17500114	0.89[AMR][1000 genomes]
rs3796058	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55791993	0.81[AMR][1000 genomes]
rs55863868	0.83[AMR][1000 genomes]
rs62183809	0.81[AMR][1000 genomes]
rs62183811	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62183817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62183851	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183852	0.89[AMR][1000 genomes]
rs6737876	0.89[AMR][1000 genomes]
rs6761111	0.81[AMR][1000 genomes]
rs72892835	0.86[AMR][1000 genomes]
rs72892859	0.89[AMR][1000 genomes]
rs788161	0.81[AMR][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	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv875412	chr2:172903124-172942448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172911200-172947200	Weak transcription	HSMM	muscle
2	chr2:172914000-172937000	Weak transcription	Pancreas	Pancrea
3	chr2:172917400-172934800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:172917800-172944800	Weak transcription	Brain Substantia Nigra	brain
5	chr2:172918000-172932800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:172918600-172935600	Weak transcription	Fetal Kidney	kidney
7	chr2:172918600-172935800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:172921800-172937200	Weak transcription	HepG2	liver
9	chr2:172923600-172939800	Weak transcription	Psoas Muscle	Psoas
10	chr2:172924200-172935800	Weak transcription	Adipose Nuclei	Adipose
11	chr2:172925600-172932400	Weak transcription	Dnd41	blood
12	chr2:172925800-172937200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr2:172925800-172937400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:172925800-172942400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:172926200-172933200	Weak transcription	Aorta	Aorta
16	chr2:172926200-172933400	Weak transcription	Right Ventricle	heart
17	chr2:172926400-172935200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:172926600-172933400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:172927000-172933800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr2:172927200-172941600	Weak transcription	Gastric	stomach
21	chr2:172927600-172933200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:172927600-172933400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:172927800-172936800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:172928200-172935800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:172928400-172932600	Weak transcription	Fetal Heart	heart
26	chr2:172928600-172933600	Weak transcription	Spleen	Spleen
27	chr2:172928600-172937400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:172928600-172940000	Weak transcription	Left Ventricle	heart
29	chr2:172929000-172933000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:172929400-172933400	Weak transcription	GM12878-XiMat	blood
31	chr2:172930000-172932800	Weak transcription	Brain Anterior Caudate	brain
32	chr2:172930000-172933000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:172930200-172933600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:172930200-172933800	Weak transcription	Fetal Muscle Leg	muscle
35	chr2:172931600-172932400	Enhancers	Brain Germinal Matrix	brain
36	chr2:172931600-172933200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:172931600-172933400	Weak transcription	Primary B cells from cord blood	blood
38	chr2:172931600-172934400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:172931600-172935400	Weak transcription	HSMMtube	muscle
40	chr2:172931600-172938600	Weak transcription	Primary T cells from cord blood	blood
41	chr2:172931600-172940400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:172931600-172944800	Weak transcription	Ovary	ovary
43	chr2:172931800-172942600	Weak transcription	K562	blood
44	chr2:172932200-172933800	Weak transcription	Fetal Intestine Small	intestine

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