Variant report

Variant	rs550622280
Chromosome Location	chr2:179296813-179296814
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179295469..179297906-chr2:179298991..179302357,3	K562	blood:
2	chr2:179296734..179298394-chr2:179344254..179346093,2	K562	blood:
3	chr2:179290293..179297501-chr2:179307356..179318778,14	K562	blood:
4	chr2:179293578..179297906-chr2:179298629..179301854,4	K562	blood:

Variant related genes	Relation type
ENSG00000180228	Chromatin interaction
ENSG00000116095	Chromatin interaction
ENSG00000204311	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv820287	chr2:179296051-179297014	Strong transcription Weak transcription	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv821814	chr2:179296070-179296962	Strong transcription Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv821160	chr2:179296070-179297104	Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv821815	chr2:179296080-179296962	Strong transcription Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv821816	chr2:179296080-179297104	Strong transcription Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv821817	chr2:179296090-179296971	Strong transcription Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv821818	chr2:179296097-179296945	Strong transcription Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv821819	chr2:179296097-179296951	Strong transcription Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv821820	chr2:179296097-179296962	Strong transcription Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv821822	chr2:179296114-179296951	Strong transcription Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv821823	chr2:179296114-179296962	Strong transcription Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv821824	chr2:179296126-179296951	Strong transcription Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv821825	chr2:179296126-179296971	Strong transcription Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv821826	chr2:179296133-179296962	Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv821828	chr2:179296147-179296962	Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv821829	chr2:179296170-179296962	Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	esv11043	chr2:179296203-179296985	Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	esv1792321	chr2:179296271-179308087	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
20	esv1792982	chr2:179296271-179308087	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
21	esv1840245	chr2:179296271-179308087	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
22	esv1841587	chr2:179296271-179308087	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
23	esv1841610	chr2:179296271-179312613	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
24	esv1817469	chr2:179296271-179319391	Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
25	esv8989	chr2:179296729-179301027	Weak transcription Strong transcription	Chromatin interactive region lncRNA	8 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	chr2:179278800-179298800	Weak transcription	Small Intestine	intestine
2	chr2:179279600-179298800	Weak transcription	Colonic Mucosa	Colon
3	chr2:179279800-179299200	Weak transcription	Esophagus	oesophagus
4	chr2:179279800-179313800	Weak transcription	Stomach Mucosa	stomach
5	chr2:179280000-179297600	Weak transcription	Hela-S3	cervix
6	chr2:179280000-179298400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:179280000-179305200	Weak transcription	Fetal Brain Male	brain
8	chr2:179280000-179310600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:179280200-179314600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:179290200-179312800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:179290800-179312000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:179290800-179312600	Strong transcription	Dnd41	blood
13	chr2:179291000-179300600	Strong transcription	Thymus	Thymus
14	chr2:179291000-179300800	Strong transcription	Stomach Smooth Muscle	stomach
15	chr2:179291000-179311600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:179291000-179313200	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr2:179291000-179313400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:179291000-179313600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr2:179291200-179298400	Weak transcription	Fetal Intestine Small	intestine
20	chr2:179291200-179299600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:179291200-179300600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr2:179291200-179300600	Strong transcription	Fetal Muscle Leg	muscle
23	chr2:179291200-179300600	Strong transcription	Left Ventricle	heart
24	chr2:179291200-179301200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:179291200-179303200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:179291200-179303200	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:179291200-179303800	Strong transcription	Primary T cells from cord blood	blood
28	chr2:179291200-179306200	Strong transcription	Fetal Brain Female	brain
29	chr2:179291200-179310400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr2:179291200-179312200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:179291200-179312800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:179291200-179312800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:179291200-179312800	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:179291200-179313600	Strong transcription	Fetal Thymus	thymus
35	chr2:179291200-179313800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:179291400-179300800	Strong transcription	Brain Germinal Matrix	brain
37	chr2:179291400-179303000	Strong transcription	A549	lung
38	chr2:179291400-179311400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:179291400-179312600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:179291400-179312800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:179291400-179313400	Strong transcription	HSMM	muscle
42	chr2:179291400-179313600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr2:179291600-179297200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:179291600-179301000	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr2:179291600-179305800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:179291600-179312600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr2:179291600-179312800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:179291600-179312800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:179291600-179313200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:179291600-179313400	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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