Variant report

Variant	rs62153853
Chromosome Location	chr2:99939425-99939426
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	chr2:99939367..99941723-chr2:99951245..99954484,3	K562	blood:
2	chr2:99936407..99940867-chr2:99951245..99954011,3	K562	blood:

Variant related genes	Relation type
ENSG00000158417	Chromatin interaction
ENSG00000115514	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11123783	0.85[AFR][1000 genomes]
rs12162367	0.86[AFR][1000 genomes]
rs12623835	0.86[AFR][1000 genomes]
rs12992356	0.86[AFR][1000 genomes]
rs13017843	0.86[AFR][1000 genomes]
rs13028722	0.83[AFR][1000 genomes]
rs2309577	0.85[AFR][1000 genomes]
rs4850902	0.82[AFR][1000 genomes]
rs4851201	0.85[AFR][1000 genomes]
rs6706425	0.88[AFR][1000 genomes]
rs6721031	0.88[AFR][1000 genomes]
rs7569805	0.85[AFR][1000 genomes]
rs7579143	0.86[AFR][1000 genomes]
rs7599384	0.81[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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv874699	chr2:99898998-100010044	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv979073	chr2:99927377-99947554	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99901600-99941200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:99915000-99942800	Weak transcription	Aorta	Aorta
3	chr2:99917200-99948200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:99921000-99942000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:99928200-99951800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:99932000-99951400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:99933000-99949800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:99933000-99950000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:99933400-99940400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:99933400-99940600	Strong transcription	Left Ventricle	heart
11	chr2:99933400-99945800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr2:99933400-99946800	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:99933400-99949000	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:99933400-99949600	Strong transcription	Fetal Muscle Leg	muscle
15	chr2:99933400-99949600	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:99933400-99949800	Strong transcription	Duodenum Mucosa	Duodenum
17	chr2:99933400-99950400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:99933400-99950600	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:99933400-99950600	Strong transcription	Fetal Thymus	thymus
20	chr2:99933600-99949000	Strong transcription	Thymus	Thymus
21	chr2:99933600-99949400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:99933600-99949600	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr2:99933600-99949600	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:99933600-99949600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:99933600-99949600	Strong transcription	Liver	Liver
26	chr2:99933600-99949600	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:99933600-99949800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:99933600-99949800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:99933600-99949800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:99933600-99949800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:99933600-99949800	Strong transcription	Adipose Nuclei	Adipose
32	chr2:99933600-99949800	Strong transcription	Fetal Muscle Trunk	muscle
33	chr2:99933600-99949800	Strong transcription	Dnd41	blood
34	chr2:99933600-99949800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr2:99933600-99950000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:99933600-99950000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr2:99933600-99950000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:99933600-99950000	Strong transcription	GM12878-XiMat	blood
39	chr2:99933600-99950200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:99933600-99950400	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:99933600-99950400	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:99933600-99950400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:99933600-99950400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:99933600-99950800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:99933800-99945000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr2:99933800-99948800	Strong transcription	HepG2	liver
47	chr2:99933800-99949800	Strong transcription	Fetal Intestine Large	intestine
48	chr2:99933800-99950000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr2:99933800-99950000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:99933800-99950400	Strong transcription	Primary T cells fromperipheralblood	blood

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