Variant report

Variant	rs12274033
Chromosome Location	chr11:75064055-75064056
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	SPI1	chr11:75064014-75064410	HL-60	blood:	n/a	chr11:75064207-75064216 chr11:75064208-75064215 chr11:75064199-75064206
2	POLR2A	chr11:75061641-75064130	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr11:75061400-75064061	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75063194..75065749-chr11:75140167..75143127,2	MCF-7	breast:
2	chr11:75061780..75064300-chr11:75109349..75111939,3	MCF-7	breast:
3	chr11:75061972..75065288-chr11:75110522..75113942,5	K562	blood:
4	chr11:75043210..75047420-chr11:75061230..75064804,5	MCF-7	breast:

Variant related genes	Relation type
ARRB1	TF binding region
ENSG00000149243	Chromatin interaction
ENSG00000199090	Chromatin interaction
ENSG00000206941	Chromatin interaction
ENSG00000149273	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11539810	0.90[JPT][hapmap]
rs12280535	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12289289	1.00[JPT][hapmap]
rs12290287	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12293207	1.00[JPT][hapmap]
rs3094303	0.90[JPT][hapmap]
rs3094304	0.90[JPT][hapmap]
rs3133186	0.90[JPT][hapmap]
rs3133187	0.90[JPT][hapmap]
rs34867163	0.84[ASN][1000 genomes]
rs35382855	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59368208	0.84[AMR][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	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
3	nsv522447	chr11:74982939-75068767	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	57 gene(s)	inside rSNPs	diseases
4	esv3374722	chr11:75060004-75064302	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
5	esv3423985	chr11:75061529-75064077	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75062400-75064200	Enhancers	Fetal Brain Male	brain
2	chr11:75063000-75064200	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr11:75063000-75064200	Flanking Active TSS	Colonic Mucosa	Colon
4	chr11:75063000-75064200	Flanking Active TSS	Dnd41	blood
5	chr11:75063000-75064400	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr11:75063000-75064400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:75063200-75064200	Flanking Active TSS	Stomach Mucosa	stomach
8	chr11:75063200-75064400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr11:75063200-75064400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:75063200-75064400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr11:75063400-75064200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:75063400-75064200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr11:75063400-75064200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr11:75063400-75064200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:75063400-75064200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:75063400-75064200	Flanking Active TSS	Fetal Intestine Small	intestine
17	chr11:75063400-75064200	Flanking Active TSS	HepG2	liver
18	chr11:75063400-75064400	Enhancers	Spleen	Spleen
19	chr11:75063400-75064400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr11:75063400-75067600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:75063600-75064200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:75063600-75064200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:75063600-75064200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr11:75063600-75064200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:75063600-75064200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr11:75063600-75064200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr11:75063600-75064200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr11:75063600-75064200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr11:75063600-75064200	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr11:75063600-75064200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr11:75063600-75064200	Enhancers	Small Intestine	intestine
32	chr11:75063600-75064200	Enhancers	A549	lung
33	chr11:75063600-75064400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr11:75063600-75076800	Weak transcription	Hela-S3	cervix
35	chr11:75063800-75064200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr11:75063800-75064200	Enhancers	H9 Cell Line	embryonic stem cell
37	chr11:75063800-75064200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
38	chr11:75063800-75064200	Enhancers	Colon Smooth Muscle	Colon
39	chr11:75063800-75064200	Enhancers	Fetal Muscle Trunk	muscle
40	chr11:75063800-75064200	Weak transcription	Gastric	stomach
41	chr11:75063800-75064200	Enhancers	Left Ventricle	heart
42	chr11:75063800-75064200	Enhancers	Pancreas	Pancrea
43	chr11:75063800-75064200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
44	chr11:75063800-75064200	Enhancers	HUVEC	blood vessel
45	chr11:75063800-75064400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr11:75063800-75064400	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr11:75063800-75064400	Enhancers	Brain Anterior Caudate	brain
48	chr11:75063800-75064400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr11:75063800-75064400	Enhancers	Placenta	Placenta
50	chr11:75063800-75064400	Bivalent Enhancer	Fetal Thymus	thymus

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