Variant report

Variant	rs16925999
Chromosome Location	chr9:100754703-100754704
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:4)
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	chr9:100754355-100754742	K562	blood:	n/a	n/a
2	POLR2A	chr9:100754693-100754724	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr9:100754624-100755847	HepG2	liver:	n/a	n/a
4	NR2F2	chr9:100754372-100754881	MCF-7	breast:	n/a	n/a
5	POLR2A	chr9:100754692-100755664	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100675954..100709047-chr9:100737887..100755543,175	K562	blood:
2	chr9:100683398..100685875-chr9:100753461..100755648,2	MCF-7	breast:
3	chr9:100717654..100720111-chr9:100754691..100757274,2	K562	blood:
4	chr9:100678422..100708679-chr9:100734559..100755577,174	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236896	TF binding region
ENSG00000201830	Chromatin interaction
ENSG00000136932	Chromatin interaction
ENSG00000136929	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16925952	0.90[ASW][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55966274	1.00[AMR][1000 genomes]
rs56160217	1.00[ASN][1000 genomes]
rs57210691	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57337895	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57559429	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57769363	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58253425	1.00[AMR][1000 genomes]
rs58506642	1.00[ASN][1000 genomes]
rs60782937	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62575562	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73490697	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73492709	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73492711	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73492719	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73492720	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73492724	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893612	chr9:100732802-100754703	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100748000-100756800	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr9:100748000-100760400	Weak transcription	Fetal Kidney	kidney
3	chr9:100748000-100760800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr9:100748000-100767200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr9:100748200-100755000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr9:100748200-100756800	Enhancers	Colon Smooth Muscle	Colon
7	chr9:100748400-100761600	Weak transcription	Brain Anterior Caudate	brain
8	chr9:100748600-100755400	Weak transcription	Brain Angular Gyrus	brain
9	chr9:100748600-100757600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:100748800-100755000	Enhancers	HepG2	liver
11	chr9:100748800-100755400	Enhancers	A549	lung
12	chr9:100748800-100756200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr9:100748800-100756200	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr9:100748800-100756600	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr9:100748800-100756800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr9:100749000-100756400	Enhancers	Primary hematopoietic stem cells	blood
17	chr9:100749000-100756800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr9:100749000-100757800	Weak transcription	Fetal Stomach	stomach
19	chr9:100749200-100754800	Enhancers	Primary T cells from cord blood	blood
20	chr9:100749200-100767200	Weak transcription	Esophagus	oesophagus
21	chr9:100750000-100755200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr9:100750000-100755400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr9:100750000-100755600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr9:100750000-100767200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr9:100750000-100767400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr9:100750200-100756000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr9:100750400-100755200	Weak transcription	Brain Germinal Matrix	brain
28	chr9:100750400-100755200	Enhancers	Hela-S3	cervix
29	chr9:100750400-100757400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr9:100750600-100757200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr9:100750800-100756800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr9:100750800-100757000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:100750800-100764000	Weak transcription	Fetal Brain Female	brain
34	chr9:100751000-100756400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr9:100751000-100761800	Weak transcription	Right Atrium	heart
36	chr9:100751000-100764200	Weak transcription	Fetal Brain Male	brain
37	chr9:100751000-100765200	Weak transcription	Aorta	Aorta
38	chr9:100751400-100756400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr9:100751400-100756600	Enhancers	Rectal Smooth Muscle	rectum
40	chr9:100751400-100756800	Weak transcription	Fetal Muscle Leg	muscle
41	chr9:100751400-100757600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr9:100751600-100756200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr9:100751600-100756200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr9:100751800-100757600	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr9:100752000-100755200	Weak transcription	Brain Hippocampus Middle	brain
46	chr9:100752000-100784000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:100752200-100756000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr9:100752200-100756600	Enhancers	Primary T cells fromperipheralblood	blood
49	chr9:100752600-100755200	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr9:100752600-100756400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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