Variant report

Variant	rs538123832
Chromosome Location	chr2:10269659-10269660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10212601..10214407-chr2:10268587..10270323,2	K562	blood:
2	chr2:10268949..10270497-chr2:10295428..10298201,2	K562	blood:
3	chr2:10268261..10270412-chr2:10564291..10566012,3	K562	blood:
4	chr17:56408352..56409911-chr2:10267487..10269783,2	K562	blood:
5	chr2:10269549..10271844-chr2:10457864..10459468,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265206	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking 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	83 gene(s)	inside rSNPs	diseases
2	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1007965	chr2:10154960-10276125	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1014790	chr2:10156968-10274855	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv999019	chr2:10157762-10273232	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv963870	chr2:10269043-10272937	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10262800-10270400	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr2:10263800-10272200	Weak transcription	Gastric	stomach
3	chr2:10263800-10277400	Weak transcription	Esophagus	oesophagus
4	chr2:10263800-10283600	Weak transcription	Spleen	Spleen
5	chr2:10264200-10281800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:10264600-10272000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:10264600-10272800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:10265000-10269800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:10265000-10270000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:10265200-10270400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:10265400-10269800	Genic enhancers	HepG2	liver
12	chr2:10265400-10269800	Genic enhancers	K562	blood
13	chr2:10265400-10269800	Strong transcription	NHEK	skin
14	chr2:10265400-10270000	Weak transcription	Primary B cells from cord blood	blood
15	chr2:10265400-10270000	Genic enhancers	A549	lung
16	chr2:10265400-10271400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:10265400-10271400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:10265400-10272000	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr2:10265400-10272200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:10265400-10273600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:10265400-10280000	Weak transcription	Fetal Kidney	kidney
22	chr2:10265400-10284000	Weak transcription	Placenta	Placenta
23	chr2:10265600-10270200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:10265600-10272800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:10265600-10273800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:10265600-10275600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:10265600-10276000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:10266000-10275400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:10266200-10270400	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr2:10266200-10271800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:10266200-10272000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr2:10266200-10272200	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:10266200-10272400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:10266200-10272800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:10266200-10276000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:10266400-10273600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr2:10266600-10273000	Strong transcription	HMEC	breast
38	chr2:10267000-10270200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:10267000-10271400	Strong transcription	Primary hematopoietic stem cells	blood
40	chr2:10267200-10269800	Strong transcription	Osteobl	bone
41	chr2:10267200-10270000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:10267200-10270800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:10267200-10272000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:10267200-10273000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:10267400-10270600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr2:10267400-10273000	Weak transcription	Liver	Liver
47	chr2:10267400-10273200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:10267400-10277600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:10267600-10269800	Enhancers	Duodenum Mucosa	Duodenum
50	chr2:10267600-10274800	Weak transcription	Fetal Lung	lung

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