Variant report

Variant	rs188518371
Chromosome Location	chr10:99189535-99189536
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:99189118-99192258	GM12878	blood:	n/a	n/a
2	POLR2A	chr10:99189065-99189555	HepG2	liver:	n/a	n/a
3	POLR2A	chr10:99189202-99190136	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:99188867..99192186-chr10:99193906..99196769,3	MCF-7	breast:
2	chr10:99186982..99190152-chr10:99256815..99259689,3	K562	blood:
3	chr10:99165495..99167483-chr10:99187813..99189704,2	K562	blood:
4	chr10:99189135..99191052-chr10:99205351..99206988,2	K562	blood:
5	chr10:99185211..99187426-chr10:99187705..99189889,2	MCF-7	breast:
6	chr10:99148085..99150519-chr10:99189341..99192060,3	K562	blood:
7	chr10:99187101..99190236-chr10:99202891..99208015,7	MCF-7	breast:
8	chr10:99176991..99182775-chr10:99183273..99189892,9	MCF-7	breast:
9	chr10:99158229..99164055-chr10:99184399..99190088,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224474	TF binding region
ENSG00000224474	Chromatin interaction
ENSG00000171314	Chromatin interaction
ENSG00000052749	Chromatin interaction
ENSG00000171311	Chromatin interaction
ENSG00000171307	Chromatin interaction
ENSG00000165886	Chromatin interaction
ENSG00000200737	Chromatin interaction
ENSG00000155229	Chromatin interaction
ENSG00000231970	Chromatin interaction

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	nsv467440	chr10:99134784-99204791	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv552025	chr10:99134784-99204791	Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv948158	chr10:99189320-99193095	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	9 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	chr10:99186000-99190200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr10:99186200-99189600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
3	chr10:99187000-99190600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
4	chr10:99187600-99189800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:99187800-99191000	Weak transcription	Ovary	ovary
6	chr10:99187800-99191200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:99188200-99190400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:99188400-99189800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr10:99188400-99190200	Genic enhancers	Fetal Heart	heart
10	chr10:99188400-99190400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr10:99188400-99190800	Weak transcription	Pancreas	Pancrea
12	chr10:99188600-99189800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr10:99188600-99190000	Weak transcription	Brain Germinal Matrix	brain
14	chr10:99188600-99190000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr10:99188600-99190200	Weak transcription	Adipose Nuclei	Adipose
16	chr10:99188600-99190200	Weak transcription	Lung	lung
17	chr10:99188600-99190200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr10:99188600-99190200	Genic enhancers	HepG2	liver
19	chr10:99188600-99190400	Weak transcription	Brain Substantia Nigra	brain
20	chr10:99188600-99190600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:99188600-99190600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr10:99188600-99190800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:99188600-99190800	Weak transcription	Gastric	stomach
24	chr10:99188600-99190800	Weak transcription	Right Ventricle	heart
25	chr10:99188600-99190800	Weak transcription	Spleen	Spleen
26	chr10:99188600-99191000	Weak transcription	Aorta	Aorta
27	chr10:99188600-99191000	Weak transcription	Esophagus	oesophagus
28	chr10:99188600-99191000	Weak transcription	Psoas Muscle	Psoas
29	chr10:99188600-99191000	Weak transcription	Small Intestine	intestine
30	chr10:99188600-99191200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr10:99188600-99192200	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr10:99188600-99192200	Strong transcription	Brain Anterior Caudate	brain
33	chr10:99188600-99192200	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr10:99188600-99195000	Weak transcription	Fetal Brain Male	brain
35	chr10:99188600-99197200	Strong transcription	HSMM	muscle
36	chr10:99188600-99200600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr10:99188600-99201400	Strong transcription	Left Ventricle	heart
38	chr10:99188600-99203200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr10:99188600-99203200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr10:99188600-99203200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr10:99188600-99203200	Strong transcription	Fetal Muscle Leg	muscle
42	chr10:99188600-99203600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr10:99188600-99204400	Strong transcription	Fetal Muscle Trunk	muscle
44	chr10:99188600-99204400	Strong transcription	Fetal Thymus	thymus
45	chr10:99188600-99204600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr10:99188600-99204800	Weak transcription	Right Atrium	heart
47	chr10:99188800-99189600	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr10:99188800-99189600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr10:99188800-99190000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr10:99188800-99190000	Genic enhancers	Dnd41	blood

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