Variant report

Variant	rs56926024
Chromosome Location	chr2:172189547-172189548
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	chr2:172183444..172186307-chr2:172187734..172190283,2	K562	blood:

Variant related genes	Relation type
ENSG00000123600	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1003130	chr2:172189196-172237268	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172169200-172193400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:172170200-172192800	Weak transcription	Fetal Intestine Large	intestine
3	chr2:172171400-172190800	Weak transcription	Esophagus	oesophagus
4	chr2:172171800-172211600	Weak transcription	Fetal Intestine Small	intestine
5	chr2:172172600-172190600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:172172800-172190600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:172172800-172222400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:172176200-172198600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:172178000-172190600	Weak transcription	Left Ventricle	heart
10	chr2:172180000-172195800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:172180600-172190800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:172180600-172203400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:172180800-172193000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:172180800-172198200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:172181000-172203800	Weak transcription	HMEC	breast
16	chr2:172181000-172221600	Weak transcription	K562	blood
17	chr2:172181200-172198000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:172181200-172204200	Weak transcription	NHEK	skin
19	chr2:172182800-172193200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:172183800-172197200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:172184000-172190200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr2:172184000-172195800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:172184000-172197800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:172184000-172198000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:172184000-172203400	Weak transcription	NH-A	brain
26	chr2:172184200-172193200	Weak transcription	Primary T cells from cord blood	blood
27	chr2:172184600-172190600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:172184600-172190600	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:172184600-172203200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:172184800-172195600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:172184800-172195800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr2:172184800-172203200	Weak transcription	Fetal Thymus	thymus
33	chr2:172184800-172203200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:172185000-172190000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:172185000-172190600	Weak transcription	HepG2	liver
36	chr2:172185000-172190800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:172185000-172193000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr2:172185000-172200400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:172185000-172202200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:172186600-172191000	Weak transcription	Primary B cells from cord blood	blood
41	chr2:172187000-172204200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:172187600-172190600	Weak transcription	HSMMtube	muscle
43	chr2:172187600-172203000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:172188200-172189600	Strong transcription	GM12878-XiMat	blood
45	chr2:172188800-172190600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr2:172189400-172204200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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