Variant report

Variant	rs565225276
Chromosome Location	chr10:99189949-99189950
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:99189821-99190545	GM12892	blood:	n/a	n/a
2	POLR2A	chr10:99189834-99190494	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr10:99189118-99192258	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:99189868-99190619	U87	brain:	n/a	n/a
5	POLR2A	chr10:99189678-99195364	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr10:99189567-99190022	HepG2	liver:	n/a	n/a
7	FOXA2	chr10:99189851-99190128	HepG2	liver:	n/a	n/a
8	POLR2A	chr10:99189935-99190541	GM12878	blood:	n/a	n/a
9	POLR2A	chr10:99189784-99190179	HepG2	liver:	n/a	n/a
10	POLR2A	chr10:99189202-99190136	K562	blood:	n/a	n/a
11	POLR2A	chr10:99189754-99190161	U87	brain:	n/a	n/a
12	POLR2A	chr10:99189787-99190045	HepG2	liver:	n/a	n/a
13	POLR2A	chr10:99189804-99190333	GM12878	blood:	n/a	n/a
14	POLR2A	chr10:99189759-99190161	U87	brain:	n/a	n/a

No data

(count:6 , 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	chr10:99189135..99191052-chr10:99205351..99206988,2	K562	blood:
4	chr10:99148085..99150519-chr10:99189341..99192060,3	K562	blood:
5	chr10:99187101..99190236-chr10:99202891..99208015,7	MCF-7	breast:
6	chr10:99158229..99164055-chr10:99184399..99190088,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224474	TF binding region
ENSG00000052749	Chromatin interaction
ENSG00000165886	Chromatin interaction
ENSG00000231970	Chromatin interaction
ENSG00000155229	Chromatin interaction
ENSG00000171307	Chromatin interaction
ENSG00000171311	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	chr10:99187000-99190600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
3	chr10:99187800-99191000	Weak transcription	Ovary	ovary
4	chr10:99187800-99191200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:99188200-99190400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:99188400-99190200	Genic enhancers	Fetal Heart	heart
7	chr10:99188400-99190400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr10:99188400-99190800	Weak transcription	Pancreas	Pancrea
9	chr10:99188600-99190000	Weak transcription	Brain Germinal Matrix	brain
10	chr10:99188600-99190000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr10:99188600-99190200	Weak transcription	Adipose Nuclei	Adipose
12	chr10:99188600-99190200	Weak transcription	Lung	lung
13	chr10:99188600-99190200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr10:99188600-99190200	Genic enhancers	HepG2	liver
15	chr10:99188600-99190400	Weak transcription	Brain Substantia Nigra	brain
16	chr10:99188600-99190600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:99188600-99190600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr10:99188600-99190800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:99188600-99190800	Weak transcription	Gastric	stomach
20	chr10:99188600-99190800	Weak transcription	Right Ventricle	heart
21	chr10:99188600-99190800	Weak transcription	Spleen	Spleen
22	chr10:99188600-99191000	Weak transcription	Aorta	Aorta
23	chr10:99188600-99191000	Weak transcription	Esophagus	oesophagus
24	chr10:99188600-99191000	Weak transcription	Psoas Muscle	Psoas
25	chr10:99188600-99191000	Weak transcription	Small Intestine	intestine
26	chr10:99188600-99191200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr10:99188600-99192200	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr10:99188600-99192200	Strong transcription	Brain Anterior Caudate	brain
29	chr10:99188600-99192200	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr10:99188600-99195000	Weak transcription	Fetal Brain Male	brain
31	chr10:99188600-99197200	Strong transcription	HSMM	muscle
32	chr10:99188600-99200600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr10:99188600-99201400	Strong transcription	Left Ventricle	heart
34	chr10:99188600-99203200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr10:99188600-99203200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr10:99188600-99203200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr10:99188600-99203200	Strong transcription	Fetal Muscle Leg	muscle
38	chr10:99188600-99203600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr10:99188600-99204400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr10:99188600-99204400	Strong transcription	Fetal Thymus	thymus
41	chr10:99188600-99204600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr10:99188600-99204800	Weak transcription	Right Atrium	heart
43	chr10:99188800-99190000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr10:99188800-99190000	Genic enhancers	Dnd41	blood
45	chr10:99188800-99190400	Weak transcription	Primary B cells from cord blood	blood
46	chr10:99188800-99190400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr10:99188800-99190400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr10:99188800-99190400	Weak transcription	Fetal Lung	lung
49	chr10:99188800-99190400	Weak transcription	NHLF	lung
50	chr10:99188800-99190600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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