Variant report

Variant	rs71457730
Chromosome Location	chr11:66327863-66327864
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66327492..66329082-chr11:66331211..66334153,2	MCF-7	breast:
2	chr11:66325723..66328064-chr11:66383615..66385386,2	K562	blood:
3	chr11:66325010..66327957-chr11:66384615..66387418,2	K562	blood:
4	chr11:66311617..66317579-chr11:66325496..66333927,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174165	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000174080	Chromatin interaction
ENSG00000248746	Chromatin interaction
ENSG00000239306	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1039593	1.00[EUR][1000 genomes]
rs10750785	1.00[EUR][1000 genomes]
rs10750787	1.00[EUR][1000 genomes]
rs10791871	1.00[EUR][1000 genomes]
rs10791875	1.00[EUR][1000 genomes]
rs10791877	1.00[EUR][1000 genomes]
rs11227537	1.00[AMR][1000 genomes]
rs1189692	1.00[EUR][1000 genomes]
rs1190627	1.00[EUR][1000 genomes]
rs1190628	1.00[EUR][1000 genomes]
rs1190630	1.00[EUR][1000 genomes]
rs1203483	1.00[EUR][1000 genomes]
rs12281049	1.00[EUR][1000 genomes]
rs1320675	1.00[EUR][1000 genomes]
rs1532823	1.00[EUR][1000 genomes]
rs1566871	1.00[EUR][1000 genomes]
rs1621469	1.00[EUR][1000 genomes]
rs1700188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1784030	1.00[EUR][1000 genomes]
rs1784035	1.00[EUR][1000 genomes]
rs1785623	1.00[EUR][1000 genomes]
rs1785624	1.00[EUR][1000 genomes]
rs1791677	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3016763	1.00[EUR][1000 genomes]
rs3132761	1.00[EUR][1000 genomes]
rs35599411	1.00[EUR][1000 genomes]
rs3850949	1.00[EUR][1000 genomes]
rs3867130	1.00[EUR][1000 genomes]
rs4290235	1.00[EUR][1000 genomes]
rs4930358	1.00[EUR][1000 genomes]
rs4930359	1.00[EUR][1000 genomes]
rs4930361	1.00[EUR][1000 genomes]
rs4930364	1.00[EUR][1000 genomes]
rs4930367	1.00[EUR][1000 genomes]
rs4930388	1.00[AMR][1000 genomes]
rs495264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs548344	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs580850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs670900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7104297	1.00[EUR][1000 genomes]
rs7105162	1.00[EUR][1000 genomes]
rs7125100	1.00[EUR][1000 genomes]
rs7130857	1.00[EUR][1000 genomes]
rs7131396	1.00[EUR][1000 genomes]
rs908693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs948359	1.00[EUR][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	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
2	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
4	nsv897787	chr11:66300348-66347850	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv897788	chr11:66319262-66347850	Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66319000-66337800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:66321400-66330400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:66321400-66331600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:66322600-66331400	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr11:66325000-66329200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:66326000-66328000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:66326400-66328400	Enhancers	Spleen	Spleen
8	chr11:66326600-66329000	Weak transcription	Brain Angular Gyrus	brain
9	chr11:66326600-66329400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:66326600-66329600	Weak transcription	Brain Substantia Nigra	brain
11	chr11:66326600-66331800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:66326600-66334800	Weak transcription	Colon Smooth Muscle	Colon
13	chr11:66326800-66328000	Weak transcription	Fetal Muscle Leg	muscle
14	chr11:66326800-66328000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr11:66326800-66329400	Weak transcription	Adipose Nuclei	Adipose
16	chr11:66326800-66329800	Weak transcription	Brain Anterior Caudate	brain
17	chr11:66326800-66329800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:66326800-66329800	Weak transcription	Fetal Brain Female	brain
19	chr11:66326800-66331200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:66326800-66331200	Weak transcription	Right Ventricle	heart
21	chr11:66326800-66331400	Weak transcription	Liver	Liver
22	chr11:66326800-66334800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:66326800-66334800	Weak transcription	Pancreas	Pancrea
24	chr11:66326800-66335000	Weak transcription	Psoas Muscle	Psoas
25	chr11:66326800-66335000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr11:66326800-66335200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:66326800-66335200	Weak transcription	Esophagus	oesophagus
28	chr11:66326800-66335200	Weak transcription	Left Ventricle	heart
29	chr11:66326800-66335200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr11:66327000-66330400	Weak transcription	Ovary	ovary
31	chr11:66327000-66332600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:66327000-66333000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:66327000-66335200	Weak transcription	Fetal Heart	heart
34	chr11:66327200-66328200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:66327200-66328600	Weak transcription	K562	blood
36	chr11:66327200-66329000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:66327200-66329400	Weak transcription	Brain Germinal Matrix	brain
38	chr11:66327200-66329400	Weak transcription	Brain Hippocampus Middle	brain
39	chr11:66327200-66329600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:66327200-66330400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr11:66327200-66330800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:66327200-66332200	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:66327200-66333200	Weak transcription	Lung	lung
44	chr11:66327200-66335000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr11:66327400-66329400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:66327400-66331800	Weak transcription	Placenta	Placenta
47	chr11:66327400-66334600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr11:66327400-66335200	Weak transcription	Right Atrium	heart
49	chr11:66327600-66330400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:66327600-66332200	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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