Variant report

Variant	rs6441950
Chromosome Location	chr3:46318976-46318977
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46317124..46320589-chr3:46407994..46411912,3	MCF-7	breast:
2	chr3:46318130..46320432-chr3:46322132..46324607,2	K562	blood:

Variant related genes	Relation type
ENSG00000160791	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs13081325	0.89[EUR][1000 genomes]
rs13084656	0.90[JPT][hapmap]
rs13096142	0.90[JPT][hapmap]
rs1388604	0.87[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1979672	0.88[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2040389	0.84[EUR][1000 genomes]
rs2040390	0.83[EUR][1000 genomes]
rs2097283	0.83[EUR][1000 genomes]
rs2157058	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2187669	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2187670	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2213288	0.83[EUR][1000 genomes]
rs3092962	0.80[EUR][1000 genomes]
rs3092964	0.80[EUR][1000 genomes]
rs34708505	0.81[EUR][1000 genomes]
rs34997146	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35510257	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36048784	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36118141	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3762823	0.80[EUR][1000 genomes]
rs3918359	0.80[EUR][1000 genomes]
rs3918361	0.80[EUR][1000 genomes]
rs41276529	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41418050	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41502550	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4682812	0.99[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4683194	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683198	0.81[ASN][1000 genomes]
rs4683199	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4683211	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4683215	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4683218	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62244813	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6441953	0.81[ASN][1000 genomes]
rs6441958	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6441959	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6441960	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6441963	0.90[JPT][hapmap]
rs6441968	0.82[EUR][1000 genomes]
rs67450950	0.80[EUR][1000 genomes]
rs6765031	0.80[EUR][1000 genomes]
rs6783993	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6788849	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6801761	0.82[EUR][1000 genomes]
rs6810232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71327045	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71615444	0.83[ASN][1000 genomes]
rs7371987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7432080	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7612940	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7635588	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7650093	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs768539	0.80[EUR][1000 genomes]
rs9839623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9840204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9842716	0.85[JPT][hapmap]
rs9853223	0.89[JPT][hapmap]
rs9877860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46317600-46324600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr3:46317600-46329200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr3:46317800-46319400	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr3:46317800-46329200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr3:46318000-46319000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr3:46318000-46319000	Enhancers	Placenta	Placenta
7	chr3:46318000-46319200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr3:46318000-46319400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr3:46318000-46319400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr3:46318000-46319400	Enhancers	Fetal Thymus	thymus
11	chr3:46318000-46319600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr3:46318000-46319800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr3:46318000-46331400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr3:46318200-46319400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr3:46318200-46319400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr3:46318200-46319400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr3:46318200-46319400	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr3:46318200-46319400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:46318400-46319000	Enhancers	Primary T cells from cord blood	blood
20	chr3:46318400-46319200	Enhancers	Duodenum Mucosa	Duodenum
21	chr3:46318400-46319200	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr3:46318400-46319400	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr3:46318600-46320400	Enhancers	GM12878-XiMat	blood
24	chr3:46318800-46327000	Weak transcription	Spleen	Spleen

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