Variant report

Variant	rs60890987
Chromosome Location	chr10:99190490-99190491
allele	C/T
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:5)
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	chr10:99190320-99192175	HepG2	liver:	n/a	n/a
5	POLR2A	chr10:99190486-99192275	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:99189868-99190619	U87	brain:	n/a	n/a
7	POLR2A	chr10:99190375-99190769	U87	brain:	n/a	n/a
8	POLR2A	chr10:99189980-99190534	GM12891	blood:	n/a	n/a
9	POLR2A	chr10:99190073-99190496	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr10:99189678-99195364	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr10:99189935-99190541	GM12878	blood:	n/a	n/a
12	POLR2A	chr10:99190421-99192136	GM12891	blood:	n/a	n/a
13	POLR2A	chr10:99190408-99192249	K562	blood:	n/a	n/a
14	POLR2A	chr10:99190366-99191416	U87	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:99160927..99162886-chr10:99190238..99192558,2	K562	blood:
2	chr10:99188867..99192186-chr10:99193906..99196769,3	MCF-7	breast:
3	chr10:99189135..99191052-chr10:99205351..99206988,2	K562	blood:
4	chr10:99148085..99150519-chr10:99189341..99192060,3	K562	blood:
5	chr10:99190230..99197642-chr10:99200865..99207415,15	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224474	TF binding region
ENSG00000052749	Chromatin interaction
ENSG00000171311	Chromatin interaction
ENSG00000171307	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10882935	0.80[ASN][1000 genomes]
rs11189213	0.80[ASN][1000 genomes]
rs17557994	0.84[EUR][1000 genomes]
rs1889545	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2297990	0.84[EUR][1000 genomes]
rs28362478	0.84[EUR][1000 genomes]
rs2861953	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3763672	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3893064	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41300215	0.84[EUR][1000 genomes]
rs41300217	0.84[EUR][1000 genomes]
rs41303833	0.84[EUR][1000 genomes]
rs4418736	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4917767	0.84[EUR][1000 genomes]
rs4917769	0.84[EUR][1000 genomes]
rs4919098	0.90[ASN][1000 genomes]
rs59058784	0.84[EUR][1000 genomes]
rs964733	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	chr10:99187000-99190600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
2	chr10:99187800-99191000	Weak transcription	Ovary	ovary
3	chr10:99187800-99191200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:99188400-99190800	Weak transcription	Pancreas	Pancrea
5	chr10:99188600-99190600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:99188600-99190600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr10:99188600-99190800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:99188600-99190800	Weak transcription	Gastric	stomach
9	chr10:99188600-99190800	Weak transcription	Right Ventricle	heart
10	chr10:99188600-99190800	Weak transcription	Spleen	Spleen
11	chr10:99188600-99191000	Weak transcription	Aorta	Aorta
12	chr10:99188600-99191000	Weak transcription	Esophagus	oesophagus
13	chr10:99188600-99191000	Weak transcription	Psoas Muscle	Psoas
14	chr10:99188600-99191000	Weak transcription	Small Intestine	intestine
15	chr10:99188600-99191200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr10:99188600-99192200	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr10:99188600-99192200	Strong transcription	Brain Anterior Caudate	brain
18	chr10:99188600-99192200	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr10:99188600-99195000	Weak transcription	Fetal Brain Male	brain
20	chr10:99188600-99197200	Strong transcription	HSMM	muscle
21	chr10:99188600-99200600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr10:99188600-99201400	Strong transcription	Left Ventricle	heart
23	chr10:99188600-99203200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr10:99188600-99203200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr10:99188600-99203200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:99188600-99203200	Strong transcription	Fetal Muscle Leg	muscle
27	chr10:99188600-99203600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr10:99188600-99204400	Strong transcription	Fetal Muscle Trunk	muscle
29	chr10:99188600-99204400	Strong transcription	Fetal Thymus	thymus
30	chr10:99188600-99204600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr10:99188600-99204800	Weak transcription	Right Atrium	heart
32	chr10:99188800-99190600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr10:99188800-99192000	Strong transcription	NHEK	skin
34	chr10:99188800-99192200	Strong transcription	Fetal Intestine Small	intestine
35	chr10:99188800-99192400	Strong transcription	Primary hematopoietic stem cells	blood
36	chr10:99188800-99195800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr10:99188800-99197000	Strong transcription	HUVEC	blood vessel
38	chr10:99188800-99199200	Strong transcription	Colon Smooth Muscle	Colon
39	chr10:99188800-99199600	Strong transcription	A549	lung
40	chr10:99188800-99200600	Weak transcription	Stomach Mucosa	stomach
41	chr10:99188800-99203000	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr10:99188800-99203200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr10:99188800-99203200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr10:99188800-99203200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr10:99188800-99203200	Strong transcription	Fetal Intestine Large	intestine
46	chr10:99188800-99203200	Strong transcription	Fetal Stomach	stomach
47	chr10:99188800-99203200	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr10:99188800-99203200	Strong transcription	NH-A	brain
49	chr10:99188800-99203400	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr10:99188800-99203400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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