Variant report

Variant	rs11097127
Chromosome Location	chr4:87990334-87990335
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87989325..87991682-chr4:87996204..87998737,2	K562	blood:
2	chr4:87988554..87990336-chr4:88011051..88012696,2	K562	blood:
3	chr4:87980531..87986351-chr4:87988282..87991075,4	K562	blood:
4	chr4:87965986..87967736-chr4:87989394..87991945,2	K562	blood:
5	chr4:87980531..87984297-chr4:87985969..87990791,4	K562	blood:
6	chr4:87979249..87981016-chr4:87989871..87992202,2	MCF-7	breast:
7	chr4:87985538..87989484-chr4:87990047..87992954,3	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10023050	0.85[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1037814	0.84[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap]
rs11946481	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13120301	0.83[YRI][hapmap]
rs1408	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1674999	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16930	0.91[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs17012368	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2045592	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2125787	0.84[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2280954	0.85[YRI][hapmap]
rs236681	0.85[YRI][hapmap]
rs236984	0.85[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs236985	0.84[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs236987	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs236992	0.84[CEU][hapmap];0.86[CHB][hapmap];0.96[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs236993	0.84[CEU][hapmap];0.86[CHB][hapmap];0.96[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs236995	0.84[CEU][hapmap];0.86[CHB][hapmap];0.96[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs236996	0.84[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28432336	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28677145	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2926511	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs342435	0.91[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs342437	0.89[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs342438	0.84[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs342452	0.85[CEU][hapmap];0.86[CHB][hapmap];0.96[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs342453	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs342454	0.85[CEU][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs342456	0.85[CEU][hapmap];0.86[CHB][hapmap];0.96[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs342466	0.84[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs342467	0.84[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs342468	0.85[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs342469	0.85[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap]
rs3736669	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3775214	0.84[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3775217	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3775220	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3775221	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3775223	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs442177	0.85[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs4693156	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72877984	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7660883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9998251	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv879525	chr4:87964363-88033352	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87964600-87995000	Weak transcription	Hela-S3	cervix
2	chr4:87968800-87995000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:87969000-87994600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:87979800-87991800	Weak transcription	A549	lung
5	chr4:87980000-87994000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr4:87980800-87991000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr4:87981000-87994600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:87981200-87994000	Weak transcription	HUVEC	blood vessel
9	chr4:87981200-87994200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:87982600-87992600	Weak transcription	Small Intestine	intestine
11	chr4:87982600-87994000	Weak transcription	Primary T cells from cord blood	blood
12	chr4:87982600-87999600	Weak transcription	K562	blood
13	chr4:87982800-87993800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr4:87982800-87994600	Weak transcription	Thymus	Thymus
15	chr4:87982800-87995000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:87983000-87991800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr4:87983000-87994000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:87983000-87994000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr4:87983000-87994000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:87983000-87994000	Weak transcription	HepG2	liver
21	chr4:87983000-87994400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr4:87983600-87993800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr4:87983600-87993800	Weak transcription	HMEC	breast
24	chr4:87983600-87994400	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr4:87984000-87994800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:87986600-87992000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr4:87987800-87991000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr4:87987800-87992000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr4:87987800-87992000	Weak transcription	Fetal Intestine Small	intestine
30	chr4:87988200-87991000	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr4:87988600-87990800	Enhancers	Brain Hippocampus Middle	brain
32	chr4:87988600-87992600	Weak transcription	Dnd41	blood
33	chr4:87988800-87991200	Weak transcription	Liver	Liver
34	chr4:87988800-87992000	Weak transcription	Fetal Intestine Large	intestine
35	chr4:87988800-87994000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:87988800-87994200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:87989000-87992800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr4:87989000-87994000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr4:87989200-87990800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr4:87989200-87990800	Genic enhancers	GM12878-XiMat	blood
41	chr4:87989200-87992800	Enhancers	Fetal Brain Male	brain
42	chr4:87989200-87994000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:87989400-87990600	Enhancers	Fetal Kidney	kidney
44	chr4:87989400-87990600	Enhancers	Fetal Lung	lung
45	chr4:87989400-87990800	Enhancers	Brain Anterior Caudate	brain
46	chr4:87989400-87990800	Enhancers	Brain Germinal Matrix	brain
47	chr4:87989400-87991600	Enhancers	Psoas Muscle	Psoas
48	chr4:87989400-87994000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:87989600-87990400	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr4:87989600-87990600	Genic enhancers	Placenta	Placenta

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