Variant report

Variant	rs613412
Chromosome Location	chr11:86210180-86210181
allele	C/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	GATA3	chr11:86209757-86211580	MCF-7	breast:	n/a	chr11:86211076-86211087

No.	Distal block	Cell Line	Cell type
1	chr11:86208558..86211731-chr11:86511256..86513544,4	MCF-7	breast:
2	chr11:86209967..86211893-chr11:86216678..86219275,2	K562	blood:
3	chr11:86209651..86211899-chr11:86233390..86235647,2	MCF-7	breast:
4	chr11:86209598..86213474-chr11:86222640..86227259,4	K562	blood:
5	chr11:86209247..86211333-chr11:86213787..86215304,2	K562	blood:
6	chr11:86209488..86213127-chr11:86228780..86231761,3	K562	blood:

Variant related genes	Relation type
ME3	TF binding region
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs147045	0.81[ASN][1000 genomes]
rs1841066	0.94[ASN][1000 genomes]
rs2279046	0.86[ASN][1000 genomes]
rs2446226	0.83[ASN][1000 genomes]
rs2446228	0.93[ASN][1000 genomes]
rs2446229	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2446231	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511090	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36043971	0.83[ASN][1000 genomes]
rs498981	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs501362	0.95[ASN][1000 genomes]
rs502749	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs503583	0.86[ASN][1000 genomes]
rs509870	0.83[ASN][1000 genomes]
rs511884	0.82[ASN][1000 genomes]
rs525764	0.87[ASN][1000 genomes]
rs531908	0.95[ASN][1000 genomes]
rs535652	0.84[ASN][1000 genomes]
rs553351	0.90[ASN][1000 genomes]
rs582976	0.82[ASN][1000 genomes]
rs585527	0.87[ASN][1000 genomes]
rs588287	0.84[ASN][1000 genomes]
rs589368	0.84[ASN][1000 genomes]
rs593853	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs594106	0.81[ASN][1000 genomes]
rs596056	0.90[ASN][1000 genomes]
rs597296	0.86[ASN][1000 genomes]
rs597793	0.96[ASN][1000 genomes]
rs598187	0.87[ASN][1000 genomes]
rs601824	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs603890	0.86[ASN][1000 genomes]
rs605618	0.82[ASN][1000 genomes]
rs606546	0.83[ASN][1000 genomes]
rs608180	0.83[ASN][1000 genomes]
rs609848	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs610842	0.94[ASN][1000 genomes]
rs612163	0.86[ASN][1000 genomes]
rs616018	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61904415	0.83[ASN][1000 genomes]
rs619195	0.85[ASN][1000 genomes]
rs619472	0.90[ASN][1000 genomes]
rs623478	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs624236	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs624843	0.94[ASN][1000 genomes]
rs624870	0.81[ASN][1000 genomes]
rs625925	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs628406	0.83[ASN][1000 genomes]
rs628449	0.95[ASN][1000 genomes]
rs630438	0.93[ASN][1000 genomes]
rs632538	0.84[ASN][1000 genomes]
rs634509	0.83[ASN][1000 genomes]
rs635934	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs636485	0.86[ASN][1000 genomes]
rs638041	0.86[ASN][1000 genomes]
rs640310	0.86[ASN][1000 genomes]
rs642278	0.93[ASN][1000 genomes]
rs643950	0.84[ASN][1000 genomes]
rs644086	0.92[ASN][1000 genomes]
rs646691	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs646798	0.86[ASN][1000 genomes]
rs648798	0.82[ASN][1000 genomes]
rs653779	0.86[ASN][1000 genomes]
rs655868	0.82[ASN][1000 genomes]
rs655934	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs658166	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs659405	0.94[ASN][1000 genomes]
rs661083	0.86[ASN][1000 genomes]
rs661972	0.86[ASN][1000 genomes]
rs662361	0.86[ASN][1000 genomes]
rs668270	0.86[ASN][1000 genomes]
rs670602	0.93[ASN][1000 genomes]
rs674250	0.86[ASN][1000 genomes]
rs679382	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs680846	0.82[ASN][1000 genomes]
rs681158	0.86[ASN][1000 genomes]
rs687804	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs689039	0.84[ASN][1000 genomes]
rs694952	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7130920	0.89[ASN][1000 genomes]
rs9645702	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86160200-86221000	Weak transcription	Primary T cells from cord blood	blood
2	chr11:86172400-86227000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:86187600-86218600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:86188000-86210400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:86189200-86222600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:86189600-86221600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:86195200-86222200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:86196200-86213600	Weak transcription	Brain Germinal Matrix	brain
9	chr11:86198000-86211000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:86198200-86210600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:86198600-86222800	Weak transcription	Esophagus	oesophagus
12	chr11:86202800-86226400	Weak transcription	Fetal Lung	lung
13	chr11:86204000-86222200	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:86204200-86210800	Weak transcription	Fetal Heart	heart
15	chr11:86204600-86220000	Weak transcription	Colonic Mucosa	Colon
16	chr11:86206600-86210200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:86206600-86210600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr11:86206800-86214200	Weak transcription	Fetal Muscle Leg	muscle
19	chr11:86206800-86214600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr11:86206800-86214800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:86207000-86213400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:86208600-86211600	Strong transcription	Brain Anterior Caudate	brain
23	chr11:86208800-86210200	Weak transcription	Stomach Mucosa	stomach
24	chr11:86208800-86210200	Weak transcription	HepG2	liver
25	chr11:86209000-86210200	Weak transcription	Right Ventricle	heart
26	chr11:86209000-86214400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:86209000-86214400	Weak transcription	HUVEC	blood vessel
28	chr11:86209200-86210200	Weak transcription	Hela-S3	cervix
29	chr11:86209200-86210800	Weak transcription	Pancreas	Pancrea
30	chr11:86209200-86211000	Weak transcription	Gastric	stomach
31	chr11:86209200-86211000	Weak transcription	Lung	lung
32	chr11:86209200-86211200	Weak transcription	Right Atrium	heart
33	chr11:86209200-86211800	Weak transcription	Fetal Brain Female	brain
34	chr11:86209200-86213000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:86209200-86213200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:86209200-86213400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:86209200-86213400	Weak transcription	Adipose Nuclei	Adipose
38	chr11:86209200-86213800	Weak transcription	Ovary	ovary
39	chr11:86209200-86213800	Weak transcription	Spleen	Spleen
40	chr11:86209200-86214200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr11:86209200-86214400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr11:86209200-86214600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:86209200-86214600	Weak transcription	Osteobl	bone
44	chr11:86209200-86214800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr11:86209200-86215000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:86209200-86216600	Weak transcription	Fetal Stomach	stomach
47	chr11:86209200-86218800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:86209200-86219600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:86209200-86221200	Weak transcription	NH-A	brain
50	chr11:86209200-86223600	Weak transcription	Brain Angular Gyrus	brain

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