Variant report

Variant	rs11189219
Chromosome Location	chr10:99189155-99189156
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 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	chr10:99189056-99189461	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr10:99189116-99189347	K562	blood:	n/a	n/a
4	POLR2A	chr10:99189118-99189448	U87	brain:	n/a	n/a
5	POLR2A	chr10:99189065-99189555	HepG2	liver:	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	chr10:99159614..99162570-chr10:99184923..99189339,4	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
ENSG00000231970	Chromatin interaction
ENSG00000224474	Chromatin interaction
ENSG00000200737	Chromatin interaction
ENSG00000165886	Chromatin interaction
ENSG00000171307	Chromatin interaction
ENSG00000171311	Chromatin interaction
ENSG00000155229	Chromatin interaction
ENSG00000052749	Chromatin interaction
ENSG00000171314	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11189212	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11189220	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12249697	1.00[CHD][hapmap]
rs12355279	1.00[CEU][hapmap]
rs12356802	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12360068	1.00[CHD][hapmap]
rs12573086	1.00[CHD][hapmap]
rs2185513	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]

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	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

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	chr10:99187400-99189400	Genic enhancers	Thymus	Thymus
5	chr10:99187600-99189800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:99187800-99191000	Weak transcription	Ovary	ovary
7	chr10:99187800-99191200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:99188200-99189400	Genic enhancers	Brain Angular Gyrus	brain
9	chr10:99188200-99190400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr10:99188400-99189200	Enhancers	Primary T cells fromperipheralblood	blood
11	chr10:99188400-99189200	Weak transcription	Liver	Liver
12	chr10:99188400-99189200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr10:99188400-99189400	Genic enhancers	Primary T cells from cord blood	blood
14	chr10:99188400-99189400	Weak transcription	Fetal Brain Female	brain
15	chr10:99188400-99189800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr10:99188400-99190200	Genic enhancers	Fetal Heart	heart
17	chr10:99188400-99190400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr10:99188400-99190800	Weak transcription	Pancreas	Pancrea
19	chr10:99188600-99189200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:99188600-99189200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr10:99188600-99189200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr10:99188600-99189200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr10:99188600-99189200	Weak transcription	Brain Hippocampus Middle	brain
24	chr10:99188600-99189200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr10:99188600-99189200	Weak transcription	Fetal Kidney	kidney
26	chr10:99188600-99189200	Weak transcription	Placenta	Placenta
27	chr10:99188600-99189200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr10:99188600-99189200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr10:99188600-99189200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr10:99188600-99189200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr10:99188600-99189200	Weak transcription	HSMMtube	muscle
32	chr10:99188600-99189400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr10:99188600-99189400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr10:99188600-99189400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr10:99188600-99189400	Weak transcription	Colonic Mucosa	Colon
36	chr10:99188600-99189800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr10:99188600-99190000	Weak transcription	Brain Germinal Matrix	brain
38	chr10:99188600-99190000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr10:99188600-99190200	Weak transcription	Adipose Nuclei	Adipose
40	chr10:99188600-99190200	Weak transcription	Lung	lung
41	chr10:99188600-99190200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr10:99188600-99190200	Genic enhancers	HepG2	liver
43	chr10:99188600-99190400	Weak transcription	Brain Substantia Nigra	brain
44	chr10:99188600-99190600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr10:99188600-99190600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr10:99188600-99190800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr10:99188600-99190800	Weak transcription	Gastric	stomach
48	chr10:99188600-99190800	Weak transcription	Right Ventricle	heart
49	chr10:99188600-99190800	Weak transcription	Spleen	Spleen
50	chr10:99188600-99191000	Weak transcription	Aorta	Aorta

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