Variant report

Variant	rs3821334
Chromosome Location	chr2:7133704-7133705
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr2:7132151-7135468	SK-N-SH	brain:	n/a	chr2:7135332-7135340 chr2:7134544-7134558 chr2:7135327-7135341 chr2:7134731-7134747
2	NFYB	chr2:7133568-7133767	GM12878	blood:	n/a	n/a
3	RAD21	chr2:7133337-7133741	SK-N-SH_RA	brain:	n/a	n/a
4	YY1	chr2:7132793-7133866	SK-N-SH_RA	brain:	n/a	chr2:7133640-7133651 chr2:7133413-7133424
5	RAD21	chr2:7133092-7133896	SK-N-SH_RA	brain:	n/a	n/a
6	FOXP2	chr2:7133354-7133784	PFSK-1	brain:	n/a	n/a
7	EP300	chr2:7132773-7133783	SK-N-SH_RA	brain:	n/a	n/a
8	GATA2	chr2:7132766-7133810	SH-SY5Y	brain:	n/a	chr2:7133576-7133586
9	FOXP2	chr2:7133347-7133704	PFSK-1	brain:	n/a	n/a
10	GATA2	chr2:7133216-7133724	HUVEC	blood vessel:	n/a	chr2:7133576-7133586
11	EP300	chr2:7132823-7133786	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:7131290..7134151-chr2:7135559..7137414,2	K562	blood:

Variant related genes	Relation type
RNF144A	TF binding region
ENSG00000151692	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11676629	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs11679967	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11689450	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11691419	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11695834	0.86[JPT][hapmap]
rs12618219	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs13011206	0.83[ASN][1000 genomes]
rs13019196	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13030643	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13035947	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs177922	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1879058	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs1964092	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs2460403	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2460405	0.86[JPT][hapmap]
rs2460406	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs309308	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs309313	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs309315	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs309321	0.86[JPT][hapmap]
rs309323	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs34429264	0.96[ASN][1000 genomes]
rs35505960	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs367906	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs368831	0.87[EUR][1000 genomes]
rs369808	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3755511	0.91[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3771993	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771998	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs3772003	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs378548	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs381214	0.86[JPT][hapmap]
rs3821335	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs388773	0.86[JPT][hapmap]
rs389351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs389411	0.86[EUR][1000 genomes]
rs392409	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs401164	0.81[EUR][1000 genomes]
rs403407	1.00[ASN][1000 genomes]
rs405503	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs410210	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs415204	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs418878	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs422341	0.86[EUR][1000 genomes]
rs429349	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs434607	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs443852	0.86[JPT][hapmap]
rs445411	0.86[JPT][hapmap]
rs447721	0.86[JPT][hapmap]
rs451763	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs530431	0.82[EUR][1000 genomes]
rs6719946	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71436170	0.96[ASN][1000 genomes]
rs73914451	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs771267	0.86[JPT][hapmap]
rs881937	0.86[JPT][hapmap]

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	nsv833326	chr2:6985027-7142564	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7101200-7144000	Weak transcription	Aorta	Aorta
2	chr2:7101200-7154000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:7109200-7137000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:7115800-7148800	Weak transcription	Esophagus	oesophagus
5	chr2:7121200-7145400	Weak transcription	Thymus	Thymus
6	chr2:7121400-7148200	Weak transcription	Fetal Intestine Small	intestine
7	chr2:7124000-7157600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:7126600-7147600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:7126800-7141800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:7126800-7148000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:7127200-7154000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:7127600-7134000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr2:7127600-7138800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:7127600-7143600	Weak transcription	HepG2	liver
15	chr2:7131000-7167600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:7131200-7141000	Strong transcription	Primary T cells from cord blood	blood
17	chr2:7131200-7146800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:7131400-7135400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:7131400-7135600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:7131400-7150200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:7131400-7162400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:7131600-7136600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr2:7131600-7137200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:7131600-7137200	Enhancers	Brain Substantia Nigra	brain
25	chr2:7131600-7154200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr2:7131600-7154200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr2:7131800-7135200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr2:7131800-7139000	Weak transcription	Fetal Thymus	thymus
29	chr2:7132000-7133800	Enhancers	Psoas Muscle	Psoas
30	chr2:7132000-7134400	Enhancers	HUVEC	blood vessel
31	chr2:7132000-7135000	Enhancers	Right Ventricle	heart
32	chr2:7132000-7135200	Enhancers	Fetal Muscle Leg	muscle
33	chr2:7132000-7136200	Enhancers	Right Atrium	heart
34	chr2:7132200-7134000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:7132200-7135000	Enhancers	Lung	lung
36	chr2:7132200-7135200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr2:7132200-7135400	Enhancers	Left Ventricle	heart
38	chr2:7132200-7135600	Enhancers	Brain Angular Gyrus	brain
39	chr2:7132200-7135800	Enhancers	Adipose Nuclei	Adipose
40	chr2:7132400-7133800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr2:7132400-7133800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr2:7132400-7133800	Enhancers	Ovary	ovary
43	chr2:7132400-7133800	Enhancers	Stomach Smooth Muscle	stomach
44	chr2:7132400-7134000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:7132400-7135200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:7132400-7135400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:7132400-7135600	Enhancers	Fetal Muscle Trunk	muscle
48	chr2:7132600-7133800	Enhancers	Fetal Brain Female	brain
49	chr2:7132600-7134800	Weak transcription	Fetal Brain Male	brain
50	chr2:7132600-7135000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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