Variant report

Variant	rs190494699
Chromosome Location	chr2:173980869-173980870
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173942302..173944887-chr2:173980344..173983035,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv834461	chr2:173979734-174038471	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173945400-173991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:173953800-173991400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:173955600-173984000	Weak transcription	Gastric	stomach
4	chr2:173957800-173983800	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:173958000-173983800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:173962200-173983800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:173965000-173987400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr2:173965400-173984400	Weak transcription	Aorta	Aorta
9	chr2:173965400-173987200	Weak transcription	Dnd41	blood
10	chr2:173965400-173989200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:173965600-173983800	Weak transcription	Adipose Nuclei	Adipose
12	chr2:173968600-173990600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:173969200-173987600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:173970000-173983200	Weak transcription	Right Atrium	heart
15	chr2:173971600-173985600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:173972200-173983800	Weak transcription	Lung	lung
17	chr2:173972600-173983800	Weak transcription	Right Ventricle	heart
18	chr2:173973200-173983800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:173974400-174005200	Weak transcription	Fetal Intestine Small	intestine
20	chr2:173974600-173983800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr2:173974600-173984000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:173974600-173984400	Weak transcription	NHEK	skin
23	chr2:173974800-173982600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:173974800-173982600	Weak transcription	A549	lung
25	chr2:173974800-173983000	Weak transcription	Fetal Heart	heart
26	chr2:173974800-173983000	Weak transcription	Osteobl	bone
27	chr2:173974800-173983200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:173974800-173983200	Weak transcription	NHDF-Ad	bronchial
29	chr2:173974800-173983800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:173974800-173984000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:173974800-173988600	Weak transcription	HSMM	muscle
32	chr2:173974800-173991400	Weak transcription	K562	blood
33	chr2:173978200-173995200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:173979600-173981200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:173980000-173985800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:173980400-173981400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr2:173980400-173981400	Enhancers	Ovary	ovary
38	chr2:173980400-173982400	Enhancers	Left Ventricle	heart
39	chr2:173980600-173981200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:173980600-173983200	Weak transcription	Psoas Muscle	Psoas
41	chr2:173980600-173989200	Weak transcription	Esophagus	oesophagus

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