Variant report

Variant	rs1532422
Chromosome Location	chr11:9779123-9779124
allele	A/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	RELA	chr11:9779033-9780278	GM12891	blood:	n/a	chr11:9779205-9779214 chr11:9779205-9779214
2	ZNF143	chr11:9779015-9779288	GM12878	blood:	n/a	chr11:9779152-9779167
3	POLR2A	chr11:9776527-9782028	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr11:9778827-9782252	U87	brain:	n/a	n/a
5	POLR2A	chr11:9778706-9779287	HUVEC	blood vessel:	n/a	n/a
6	MAX	chr11:9779083-9782036	A549	lung:	n/a	chr11:9780798-9780808 chr11:9779083-9779094 chr11:9781443-9781454 chr11:9781442-9781455 chr11:9781444-9781453 chr11:9781418-9781427 chr11:9781443-9781454
7	MAX	chr11:9779097-9781722	NB4	blood:	n/a	chr11:9780798-9780808 chr11:9781443-9781454 chr11:9781442-9781455 chr11:9781444-9781453 chr11:9781418-9781427 chr11:9781443-9781454
8	CTCF	chr11:9778273-9781596	A549	lung:	n/a	chr11:9779809-9779830 chr11:9779810-9779823 chr11:9779744-9779757 chr11:9781171-9781184 chr11:9778576-9778589 chr11:9779807-9779825 chr11:9780473-9780486 chr11:9780203-9780216
9	SMC3	chr11:9779047-9782466	SK-N-SH	brain:	n/a	chr11:9780200-9780210 chr11:9779809-9779823 chr11:9779813-9779823
10	POLR2A	chr11:9775144-9782147	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr11:9776829-9779197	HUVEC	blood vessel:	n/a	n/a
12	RAD21	chr11:9778829-9782264	SK-N-SH	brain:	n/a	chr11:9779813-9779823 chr11:9780472-9780486 chr11:9779808-9779827 chr11:9780523-9780536 chr11:9781753-9781766
13	MYC	chr11:9779059-9782093	NB4	blood:	n/a	chr11:9780798-9780808 chr11:9779083-9779094 chr11:9781443-9781454 chr11:9781442-9781455 chr11:9781444-9781453 chr11:9781418-9781427 chr11:9781443-9781454
14	RELA	chr11:9779071-9780212	GM19099	blood:	n/a	chr11:9779205-9779214 chr11:9779205-9779214
15	STAT1	chr11:9779011-9779126	GM12878	blood:	n/a	n/a
16	MXI1	chr11:9778746-9782283	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:9773431..9776316-chr11:9777677..9779608,2	K562	blood:
2	chr11:9594244..9596039-chr11:9777459..9779743,2	MCF-7	breast:
3	chr11:9773431..9775372-chr11:9777677..9779638,2	K562	blood:
4	chr11:9777333..9782154-chr11:10324598..10331360,10	MCF-7	breast:
5	chr11:9777757..9779600-chr11:10325814..10328384,2	MCF-7	breast:

Variant related genes	Relation type
SBF2-AS1	TF binding region
ENSG00000254554	Chromatin interaction
ENSG00000133805	Chromatin interaction
ENSG00000148926	Chromatin interaction
ENSG00000166483	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1045634	0.84[JPT][hapmap]
rs1056593	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs1056674	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10770061	0.85[JPT][hapmap]
rs11042498	0.85[JPT][hapmap]
rs11042562	1.00[CEU][hapmap]
rs11821544	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11821692	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11825952	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11828354	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1496475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16906967	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16907071	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs1845884	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28607967	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2878800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3197265	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs34696762	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3751001	1.00[CEU][hapmap]
rs3763862	0.85[JPT][hapmap]
rs3817010	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3829252	0.85[JPT][hapmap]
rs4910500	0.85[JPT][hapmap]
rs55959510	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56029305	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56096143	0.81[ASN][1000 genomes]
rs56340721	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57070018	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57590863	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57650149	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57843161	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57864531	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58073079	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs58217715	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs58765157	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59070186	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60195226	0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs60544361	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60548107	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60601382	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60929104	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61059316	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61284089	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61469272	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6483649	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6483650	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6483651	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6483654	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6483655	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6483657	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6483658	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7113055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7114514	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7928407	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7935267	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7936721	0.84[JPT][hapmap]
rs7939896	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7940708	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7940826	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7946920	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7949343	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7950075	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs868860	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs868861	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs868862	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1045550	chr11:9718324-9790088	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv896987	chr11:9759918-9885849	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv3384280	chr11:9766350-9911228	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9742200-9779400	Weak transcription	Fetal Brain Male	brain
2	chr11:9762400-9779400	Weak transcription	Liver	Liver
3	chr11:9762400-9779400	Weak transcription	Psoas Muscle	Psoas
4	chr11:9762600-9779200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr11:9762800-9779400	Weak transcription	Fetal Brain Female	brain
6	chr11:9763600-9779400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:9770200-9779200	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:9770200-9779400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:9770200-9779400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:9770200-9779400	Weak transcription	Ovary	ovary
11	chr11:9770200-9779400	Weak transcription	Pancreas	Pancrea
12	chr11:9770200-9779600	Weak transcription	Small Intestine	intestine
13	chr11:9770400-9779200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr11:9770400-9779400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:9772400-9779200	Weak transcription	Primary T cells from cord blood	blood
16	chr11:9772400-9779400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:9772400-9779400	Weak transcription	Gastric	stomach
18	chr11:9773800-9779400	Enhancers	HMEC	breast
19	chr11:9773800-9779800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:9774000-9779200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr11:9774000-9779400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr11:9774000-9779400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:9774000-9779400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:9774000-9779400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:9774000-9779400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr11:9774000-9779400	Weak transcription	Aorta	Aorta
27	chr11:9774000-9779400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:9774000-9779400	Weak transcription	Thymus	Thymus
29	chr11:9774200-9779200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr11:9774600-9779400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:9774600-9779400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:9774600-9780000	Enhancers	HSMMtube	muscle
33	chr11:9774800-9779400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:9774800-9779400	Enhancers	Fetal Intestine Large	intestine
35	chr11:9775000-9779200	Enhancers	Primary B cells from peripheral blood	blood
36	chr11:9775000-9779200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr11:9775200-9779800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:9775400-9779200	Enhancers	Primary B cells from cord blood	blood
39	chr11:9775800-9779400	Enhancers	HSMM	muscle
40	chr11:9776000-9779200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr11:9776000-9779400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:9776000-9779400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr11:9776000-9780000	Enhancers	NHDF-Ad	bronchial
44	chr11:9776400-9779400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr11:9776400-9779400	Enhancers	GM12878-XiMat	blood
46	chr11:9776600-9779400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:9776600-9779400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:9776600-9779400	Weak transcription	Brain Angular Gyrus	brain
49	chr11:9776600-9779400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr11:9776600-9779400	Weak transcription	Brain Inferior Temporal Lobe	brain

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