Variant report

Variant	rs11183464
Chromosome Location	chr12:46794438-46794439
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46660196..46664289-chr12:46793162..46796060,3	MCF-7	breast:
2	chr12:46794174..46798124-chr12:46799495..46805327,7	K562	blood:
3	chr12:46787652..46790315-chr12:46793888..46796934,3	K562	blood:
4	chr12:46793862..46797366-chr12:46798440..46803120,6	MCF-7	breast:
5	chr12:46759584..46762474-chr12:46794055..46796996,3	K562	blood:
6	chr12:46786302..46788286-chr12:46793724..46796369,2	MCF-7	breast:
7	chr12:46775685..46777322-chr12:46793673..46795917,2	K562	blood:
8	chr12:46789348..46792000-chr12:46793237..46794849,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction
ENSG00000111371	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10785631	1.00[CEU][hapmap]
rs10880975	1.00[CEU][hapmap]
rs10880976	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs10880977	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs11183462	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183485	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11183489	0.94[EUR][1000 genomes]
rs11183497	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11829502	1.00[CEU][hapmap]
rs11831177	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs11831920	1.00[CEU][hapmap]
rs11831929	1.00[CEU][hapmap]
rs11836915	1.00[CEU][hapmap];0.93[CHD][hapmap];0.85[TSI][hapmap]
rs11836940	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs12298393	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12303084	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12305921	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12307205	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12580121	1.00[CEU][hapmap]
rs17096991	1.00[CEU][hapmap]
rs17096995	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs17097002	1.00[CEU][hapmap]
rs17097022	1.00[CEU][hapmap]
rs17121410	1.00[CEU][hapmap]
rs17121412	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs2430940	1.00[CEU][hapmap]
rs2430942	1.00[CEU][hapmap]
rs2430946	1.00[CEU][hapmap]
rs2430947	1.00[CEU][hapmap]
rs2471583	1.00[CEU][hapmap]
rs2471594	1.00[CEU][hapmap]
rs2471602	1.00[CEU][hapmap]
rs2471605	1.00[CEU][hapmap]
rs2471608	1.00[CEU][hapmap]
rs2471618	1.00[CEU][hapmap]
rs2909411	1.00[CEU][hapmap]
rs6582666	1.00[CEU][hapmap]
rs7295471	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs7310326	1.00[CEU][hapmap]
rs9971651	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46778800-46797200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:46779600-46802800	Weak transcription	Pancreas	Pancrea
3	chr12:46781600-46795400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:46781800-46795000	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:46782000-46794600	Weak transcription	Fetal Kidney	kidney
6	chr12:46782000-46794600	Weak transcription	Placenta	Placenta
7	chr12:46782000-46794600	Weak transcription	Psoas Muscle	Psoas
8	chr12:46782800-46796600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr12:46783200-46795600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:46783200-46796200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:46783200-46796600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:46783200-46796800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:46783400-46794600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:46783400-46795000	Weak transcription	Fetal Heart	heart
15	chr12:46783400-46795400	Weak transcription	HSMM	muscle
16	chr12:46783400-46796200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:46785000-46796200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:46785200-46795000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:46785200-46796000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:46785400-46795200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:46785600-46796600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:46785800-46796600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:46786600-46796000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:46787000-46795200	Weak transcription	Fetal Lung	lung
25	chr12:46787000-46795400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:46787000-46798400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:46787400-46795600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:46787800-46798200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:46789200-46795400	Weak transcription	Fetal Brain Male	brain
30	chr12:46789600-46795200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr12:46789600-46796800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:46789800-46797600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr12:46790000-46794600	Weak transcription	Fetal Stomach	stomach
34	chr12:46790000-46795600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:46790200-46796600	Weak transcription	Primary B cells from cord blood	blood
36	chr12:46791000-46795400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:46791000-46796800	Weak transcription	Ovary	ovary
38	chr12:46791400-46795400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr12:46791600-46794600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:46791600-46795600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:46791800-46795400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr12:46793800-46795800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr12:46793800-46796800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr12:46793800-46801200	Enhancers	Dnd41	blood
45	chr12:46794200-46796400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:46794200-46796800	Enhancers	NH-A	brain
47	chr12:46794200-46798600	Enhancers	Thymus	Thymus
48	chr12:46794200-46798800	Enhancers	Fetal Thymus	thymus
49	chr12:46794200-46799000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:46794200-46799000	Enhancers	Osteobl	bone

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