Variant report

Variant	rs115714187
Chromosome Location	chr22:28252040-28252041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv588878	chr22:28248840-28314113	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28238800-28255200	Weak transcription	Stomach Mucosa	stomach
2	chr22:28239200-28259400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr22:28240400-28254800	Strong transcription	Primary T cells from cord blood	blood
4	chr22:28240800-28258400	Strong transcription	Thymus	Thymus
5	chr22:28241400-28257800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr22:28241400-28261600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr22:28241600-28258000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr22:28242000-28253400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr22:28242000-28259400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr22:28242200-28259000	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr22:28242200-28259400	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr22:28242400-28263200	Strong transcription	GM12878-XiMat	blood
13	chr22:28242600-28258200	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr22:28242600-28259200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr22:28242600-28259400	Strong transcription	NHEK	skin
16	chr22:28242800-28255200	Strong transcription	Duodenum Mucosa	Duodenum
17	chr22:28242800-28259400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr22:28243200-28256400	Strong transcription	Primary B cells from cord blood	blood
19	chr22:28243800-28256200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr22:28243800-28259600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr22:28243800-28274000	Strong transcription	Dnd41	blood
22	chr22:28244000-28261800	Strong transcription	HMEC	breast
23	chr22:28244000-28263600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr22:28244200-28254200	Strong transcription	A549	lung
25	chr22:28244200-28264200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr22:28245400-28255000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr22:28246200-28254000	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr22:28246400-28254400	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr22:28246400-28255000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr22:28246400-28259400	Strong transcription	Placenta	Placenta
31	chr22:28246600-28253600	Strong transcription	Hela-S3	cervix
32	chr22:28246800-28258000	Strong transcription	Fetal Thymus	thymus
33	chr22:28246800-28258200	Strong transcription	NH-A	brain
34	chr22:28246800-28259000	Strong transcription	Fetal Muscle Leg	muscle
35	chr22:28247000-28252600	Strong transcription	Left Ventricle	heart
36	chr22:28247000-28253400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr22:28247000-28253400	Strong transcription	HSMMtube	muscle
38	chr22:28247000-28253600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr22:28247000-28254000	Strong transcription	Lung	lung
40	chr22:28247000-28258800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr22:28247000-28311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr22:28247400-28256200	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr22:28247400-28256200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
44	chr22:28247600-28252200	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr22:28247600-28254200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr22:28247600-28258000	Strong transcription	HUVEC	blood vessel
47	chr22:28248000-28253400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr22:28248200-28258000	Strong transcription	HepG2	liver
49	chr22:28248600-28252400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr22:28248600-28263000	Weak transcription	Right Atrium	heart

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