Variant report

Variant	rs676114
Chromosome Location	chr11:65076918-65076919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65074254..65077175-chr11:65081347..65083699,4	MCF-7	breast:
2	chr11:65075418..65078976-chr11:65080570..65084670,6	MCF-7	breast:
3	chr11:65074798..65079854-chr11:65080462..65084374,8	K562	blood:
4	chr11:65076293..65078111-chr11:65089035..65091172,2	K562	blood:
5	chr11:65044749..65047601-chr11:65075341..65077443,2	K562	blood:
6	chr11:65073855..65075835-chr11:65076767..65078469,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149798	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1152611	0.83[ASN][1000 genomes]
rs1783486	0.89[CHD][hapmap];0.85[GIH][hapmap];0.81[LWK][hapmap];0.81[YRI][hapmap]
rs1858783	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.83[ASN][1000 genomes]
rs239261	0.94[CHD][hapmap];0.91[GIH][hapmap];0.81[LWK][hapmap];0.88[MEX][hapmap];0.86[YRI][hapmap]
rs28781278	0.86[ASN][1000 genomes]
rs2904966	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2904967	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.86[MEX][hapmap]
rs2904979	0.89[CHD][hapmap];0.97[GIH][hapmap];0.81[LWK][hapmap];0.88[MEX][hapmap]
rs2904980	0.89[CHD][hapmap];0.85[GIH][hapmap]
rs2904982	1.00[CHB][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes]
rs2957111	0.81[AMR][1000 genomes]
rs3015997	0.89[CHD][hapmap];0.94[GIH][hapmap];0.81[LWK][hapmap];0.88[MEX][hapmap]
rs3016000	0.83[ASN][1000 genomes]
rs3741386	1.00[CHB][hapmap]
rs482842	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.81[LWK][hapmap];0.81[YRI][hapmap];0.83[ASN][1000 genomes]
rs487397	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs487568	0.83[ASN][1000 genomes]
rs487989	1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.88[MEX][hapmap];0.83[ASN][1000 genomes]
rs488289	0.83[ASN][1000 genomes]
rs503277	0.80[CEU][hapmap];1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs506280	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs507005	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs509303	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.83[ASN][1000 genomes]
rs526502	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap]
rs542142	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551523	1.00[CHB][hapmap]
rs554122	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap]
rs560097	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.83[ASN][1000 genomes]
rs592050	1.00[CHB][hapmap]
rs603286	0.83[ASN][1000 genomes]
rs611910	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.83[ASN][1000 genomes]
rs612392	0.82[ASW][hapmap];0.88[CEU][hapmap];0.83[CHD][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.85[YRI][hapmap]
rs620427	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs626555	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs626802	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap]
rs630055	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.83[ASN][1000 genomes]
rs636928	0.97[ASN][1000 genomes]
rs650056	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs655433	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs6591180	1.00[YRI][hapmap]
rs667341	1.00[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];0.81[ASN][1000 genomes]
rs668735	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.83[ASN][1000 genomes]
rs673147	1.00[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];0.83[ASN][1000 genomes]
rs676573	1.00[CHB][hapmap]
rs689288	0.88[CEU][hapmap];0.83[CHD][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap]
rs7116674	0.94[CHD][hapmap];0.85[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs8638	1.00[CHB][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
4	nsv897714	chr11:65076918-65091609	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65062800-65077200	Weak transcription	Fetal Brain Male	brain
2	chr11:65063800-65081200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr11:65065000-65081800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr11:65065000-65081800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:65066000-65081800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr11:65066200-65078000	Weak transcription	HMEC	breast
7	chr11:65066400-65080800	Weak transcription	Brain Germinal Matrix	brain
8	chr11:65066600-65081600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:65066600-65081800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:65067000-65081800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr11:65068200-65079200	Genic enhancers	Fetal Intestine Small	intestine
12	chr11:65068600-65079800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:65069400-65077600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:65070000-65077800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:65070000-65078200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:65070200-65077600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:65070200-65077600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:65072000-65081000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:65072800-65081800	Weak transcription	Dnd41	blood
20	chr11:65073200-65077600	Weak transcription	Brain Angular Gyrus	brain
21	chr11:65073400-65077600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:65073400-65077600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:65073400-65077600	Weak transcription	Brain Substantia Nigra	brain
24	chr11:65073400-65079000	Weak transcription	Thymus	Thymus
25	chr11:65073600-65077600	Weak transcription	NH-A	brain
26	chr11:65073800-65077600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:65074200-65077800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:65074200-65079200	Genic enhancers	Fetal Stomach	stomach
29	chr11:65074800-65079400	Enhancers	NHDF-Ad	bronchial
30	chr11:65075000-65077000	Enhancers	A549	lung
31	chr11:65075000-65078800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr11:65075000-65078800	Enhancers	Left Ventricle	heart
33	chr11:65075000-65079200	Enhancers	Right Ventricle	heart
34	chr11:65075000-65079800	Bivalent Enhancer	Placenta	Placenta
35	chr11:65075200-65077000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr11:65075200-65077000	Enhancers	Fetal Lung	lung
37	chr11:65075200-65077000	Enhancers	Pancreas	Pancrea
38	chr11:65075200-65077000	Enhancers	Right Atrium	heart
39	chr11:65075200-65077000	Enhancers	HUVEC	blood vessel
40	chr11:65075200-65077400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr11:65075200-65077600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:65075200-65079200	Enhancers	Lung	lung
43	chr11:65075400-65077000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr11:65075400-65078000	Genic enhancers	NHLF	lung
45	chr11:65075400-65078200	Enhancers	HSMM	muscle
46	chr11:65075400-65080800	Enhancers	Duodenum Mucosa	Duodenum
47	chr11:65075600-65077000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:65075600-65077000	Enhancers	Fetal Intestine Large	intestine
49	chr11:65075600-65077400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:65075600-65079800	Enhancers	Spleen	Spleen

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