Variant report

Variant	rs474056
Chromosome Location	chr11:75155139-75155140
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75155119..75158447-chr11:75161089..75163819,3	MCF-7	breast:
2	chr11:75148115..75151713-chr11:75153715..75157697,3	MCF-7	breast:
3	chr11:75153115..75155939-chr11:75160007..75164426,4	MCF-7	breast:
4	chr11:75154353..75156705-chr11:75157943..75161543,3	K562	blood:
5	chr11:75111438..75113575-chr11:75153737..75155767,2	K562	blood:
6	chr11:75154122..75156183-chr11:75156400..75158259,2	MCF-7	breast:
7	chr11:75152171..75153899-chr11:75153908..75155608,2	K562	blood:

Variant related genes	Relation type
ENSG00000149273	Chromatin interaction
ENSG00000158555	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10751243	0.84[EUR][1000 genomes]
rs12421913	0.81[JPT][hapmap]
rs1557474	0.92[CHB][hapmap];0.87[EUR][1000 genomes]
rs1623440	0.92[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1631865	0.92[CHB][hapmap];0.87[EUR][1000 genomes]
rs1790145	0.81[CEU][hapmap];0.93[CHB][hapmap];0.88[EUR][1000 genomes]
rs1790149	0.92[CHB][hapmap];0.87[EUR][1000 genomes]
rs1790153	0.87[EUR][1000 genomes]
rs1790154	0.93[CHB][hapmap];0.86[EUR][1000 genomes]
rs1790155	0.92[CHB][hapmap];0.85[EUR][1000 genomes]
rs1790156	0.87[EUR][1000 genomes]
rs1790158	0.92[CHB][hapmap];0.87[EUR][1000 genomes]
rs1790160	0.86[CEU][hapmap];0.93[CHB][hapmap];0.91[EUR][1000 genomes]
rs1793411	0.81[CEU][hapmap];0.85[CHB][hapmap];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1793412	0.92[CHB][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1793415	0.93[CHB][hapmap];0.87[EUR][1000 genomes]
rs1894213	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs471857	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs473462	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs482458	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs482503	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs486326	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs488305	0.96[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs492309	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs504685	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs518611	0.96[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs523617	0.88[EUR][1000 genomes]
rs532454	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs535520	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs535523	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs546632	0.83[EUR][1000 genomes]
rs547844	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs550957	0.84[EUR][1000 genomes]
rs578840	1.00[CEU][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs609793	0.83[EUR][1000 genomes]
rs611449	0.84[EUR][1000 genomes]
rs623338	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs625938	0.84[EUR][1000 genomes]
rs653673	0.84[EUR][1000 genomes]
rs668727	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75141800-75165400	Weak transcription	Right Atrium	heart
2	chr11:75142000-75165200	Weak transcription	Ovary	ovary
3	chr11:75142600-75156600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:75144200-75164800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:75144200-75165400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:75144200-75186600	Weak transcription	Gastric	stomach
7	chr11:75144400-75179800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:75144600-75155800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr11:75144600-75174000	Weak transcription	Liver	Liver
10	chr11:75144800-75156600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:75145000-75156000	Strong transcription	Spleen	Spleen
12	chr11:75145000-75162400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr11:75145000-75167800	Strong transcription	Placenta	Placenta
14	chr11:75145200-75165200	Weak transcription	A549	lung
15	chr11:75145200-75186200	Weak transcription	Primary T cells from cord blood	blood
16	chr11:75145200-75186400	Strong transcription	Fetal Intestine Small	intestine
17	chr11:75145400-75156200	Strong transcription	Fetal Intestine Large	intestine
18	chr11:75145600-75155400	Strong transcription	Adipose Nuclei	Adipose
19	chr11:75146400-75163200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr11:75146400-75173000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:75147800-75186000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr11:75148000-75163800	Weak transcription	Lung	lung
23	chr11:75148200-75186000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr11:75149400-75155600	Strong transcription	HSMMtube	muscle
25	chr11:75150400-75172600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:75150800-75156600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:75151400-75158800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:75152800-75159400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:75152800-75161600	Weak transcription	Pancreas	Pancrea
30	chr11:75153000-75161200	Weak transcription	Right Ventricle	heart
31	chr11:75153000-75162200	Weak transcription	HepG2	liver
32	chr11:75153000-75162800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr11:75153400-75156600	Weak transcription	Esophagus	oesophagus
34	chr11:75153400-75168000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:75153600-75167200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:75153800-75176600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:75154200-75156600	Weak transcription	Fetal Stomach	stomach
38	chr11:75154400-75159000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:75154400-75160200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:75154400-75165400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr11:75154400-75165400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:75154600-75155200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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