Variant report

Variant	rs11580045
Chromosome Location	chr1:92346099-92346100
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92345504..92347682-chr1:92351569..92354342,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000069702	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10157853	0.97[ASN][1000 genomes]
rs10430069	0.89[ASN][1000 genomes]
rs10493857	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10875030	0.85[EUR][1000 genomes]
rs10875040	0.91[ASN][1000 genomes]
rs11165679	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11165681	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11466542	0.89[ASN][1000 genomes]
rs11580031	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11585105	0.91[ASN][1000 genomes]
rs11590254	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1192524	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12026798	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12032588	0.97[ASN][1000 genomes]
rs12127774	0.85[EUR][1000 genomes]
rs12140637	0.89[ASN][1000 genomes]
rs12569180	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12725483	0.97[ASN][1000 genomes]
rs17516329	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17576372	0.91[ASN][1000 genomes]
rs17881430	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17884021	0.90[ASN][1000 genomes]
rs2450924	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2489188	0.80[EUR][1000 genomes]
rs28403919	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61779066	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6656018	0.82[EUR][1000 genomes]
rs66786059	0.91[ASN][1000 genomes]
rs7550034	0.90[ASN][1000 genomes]
rs9661103	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking 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	19 gene(s)	inside rSNPs	diseases
6	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv949449	chr1:92211020-92585831	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv524845	chr1:92215725-92598705	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv462517	chr1:92215725-92598705	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv546810	chr1:92215725-92598705	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1006318	chr1:92216408-92608324	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv432498	chr1:92218245-92618323	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1004570	chr1:92220544-92622129	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1007661	chr1:92220544-92655952	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv1014837	chr1:92233905-92618839	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv535031	chr1:92233905-92618839	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv1012134	chr1:92235485-92598800	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv546818	chr1:92236048-92579206	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv546819	chr1:92256626-92558583	Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv546820	chr1:92273644-92558583	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
22	nsv1007270	chr1:92289298-92598800	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	nsv1002730	chr1:92302541-92565229	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
24	nsv830581	chr1:92317207-92511175	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
25	nsv871415	chr1:92340684-92641607	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92338400-92348600	Weak transcription	Right Atrium	heart
2	chr1:92338600-92347200	Weak transcription	Psoas Muscle	Psoas
3	chr1:92338600-92348800	Weak transcription	Stomach Mucosa	stomach
4	chr1:92338600-92349600	Weak transcription	Pancreas	Pancrea
5	chr1:92338600-92350000	Weak transcription	Esophagus	oesophagus
6	chr1:92338600-92350000	Weak transcription	Left Ventricle	heart
7	chr1:92338800-92346800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:92338800-92350000	Weak transcription	K562	blood
9	chr1:92339400-92347200	Weak transcription	Placenta	Placenta
10	chr1:92340000-92349200	Weak transcription	Lung	lung
11	chr1:92340600-92347600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:92340600-92348400	Enhancers	Adipose Nuclei	Adipose
13	chr1:92341600-92346200	Enhancers	Ovary	ovary
14	chr1:92341800-92348600	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:92342000-92348800	Weak transcription	Right Ventricle	heart
16	chr1:92342200-92346600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:92342200-92346600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:92342200-92346800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:92342200-92348600	Weak transcription	NHLF	lung
20	chr1:92342400-92348800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:92342800-92348400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:92343400-92348800	Weak transcription	Liver	Liver
23	chr1:92343600-92346600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:92343600-92347400	Enhancers	Fetal Stomach	stomach
25	chr1:92343800-92348400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:92343800-92348800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:92344000-92348600	Weak transcription	Osteobl	bone
28	chr1:92344200-92346800	Weak transcription	Fetal Kidney	kidney
29	chr1:92344200-92346800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:92344200-92348800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr1:92344200-92349000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr1:92344400-92346600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:92344400-92346800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr1:92344400-92348800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:92344600-92348600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr1:92344600-92349200	Weak transcription	NHEK	skin
37	chr1:92344600-92349400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:92344600-92349800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:92344800-92349000	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:92345000-92348600	Weak transcription	A549	lung
41	chr1:92345200-92346600	Weak transcription	GM12878-XiMat	blood
42	chr1:92345200-92346800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr1:92345200-92346800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:92345200-92346800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:92345200-92348400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:92345200-92349000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:92345200-92349200	Weak transcription	Fetal Intestine Small	intestine
48	chr1:92345600-92346800	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:92345600-92346800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr1:92345600-92348400	Weak transcription	Fetal Heart	heart

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