Variant report

Variant	rs11581172
Chromosome Location	chr1:45121515-45121516
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45119430..45122212-chr1:45185385..45187031,2	MCF-7	breast:
2	chr1:45118835..45121657-chr1:45126816..45128426,2	MCF-7	breast:
3	chr1:45114297..45117941-chr1:45118862..45123452,6	K562	blood:
4	chr1:45095204..45100641-chr1:45116393..45122089,10	MCF-7	breast:
5	chr1:45121107..45121686-chr1:45180379..45181255,2	MCF-7	breast:
6	chr1:45121141..45121895-chr1:45142552..45143410,4	MCF-7	breast:
7	chr1:45074848..45075421-chr1:45120987..45121697,2	MCF-7	breast:
8	chr1:45086965..45088510-chr1:45121277..45123002,2	MCF-7	breast:
9	chr1:45121448..45125334-chr1:45184794..45188657,5	K562	blood:
10	chr1:45120989..45121628-chr1:45142310..45143111,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000199377	Chromatin interaction
ENSG00000187147	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1051648	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1051664	0.81[GIH][hapmap];0.81[EUR][1000 genomes]
rs11573596	1.00[YRI][hapmap]
rs11582970	0.88[EUR][1000 genomes]
rs12731688	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1407144	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17387413	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2018706	0.95[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2281759	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs2355365	0.90[CEU][hapmap];0.87[GIH][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs2822	0.82[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34296911	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3444	0.95[CEU][hapmap];0.90[GIH][hapmap];0.85[MKK][hapmap];0.90[TSI][hapmap];0.94[EUR][1000 genomes]
rs35791258	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3768439	0.95[CEU][hapmap];0.87[GIH][hapmap];0.95[MKK][hapmap];0.87[TSI][hapmap];0.80[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs3850852	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41269061	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4660283	0.95[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4660284	0.95[CEU][hapmap];0.87[GIH][hapmap];0.95[MKK][hapmap];0.87[TSI][hapmap];0.94[EUR][1000 genomes]
rs4660285	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4660815	0.95[CEU][hapmap];0.97[GIH][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4660816	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4660817	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57291201	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671954	0.93[EUR][1000 genomes]
rs74070566	0.89[EUR][1000 genomes]
rs876511	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs876512	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs995089	0.90[CEU][hapmap];0.85[GIH][hapmap];0.87[TSI][hapmap];0.93[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	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
5	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45099800-45121600	Strong transcription	Brain Germinal Matrix	brain
2	chr1:45099800-45125600	Strong transcription	Lung	lung
3	chr1:45104000-45138200	Weak transcription	Fetal Brain Male	brain
4	chr1:45106800-45124800	Weak transcription	Fetal Heart	heart
5	chr1:45109600-45121600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:45111200-45128000	Weak transcription	Right Atrium	heart
7	chr1:45113000-45126200	Weak transcription	Small Intestine	intestine
8	chr1:45113200-45125800	Strong transcription	Fetal Stomach	stomach
9	chr1:45114600-45130000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:45115000-45126000	Weak transcription	HMEC	breast
11	chr1:45115200-45137800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:45115600-45125800	Weak transcription	HSMM	muscle
13	chr1:45115800-45125000	Weak transcription	Fetal Kidney	kidney
14	chr1:45115800-45138000	Weak transcription	NHDF-Ad	bronchial
15	chr1:45116000-45124400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:45116000-45130000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr1:45116600-45127600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:45116800-45121800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:45116800-45122000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:45116800-45125800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:45117000-45125600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:45117200-45125000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:45117200-45125800	Weak transcription	Fetal Lung	lung
24	chr1:45117200-45127600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:45117200-45130200	Weak transcription	Primary B cells from cord blood	blood
26	chr1:45117200-45137800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:45117200-45138600	Weak transcription	Aorta	Aorta
28	chr1:45117400-45125800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:45117400-45125800	Weak transcription	HSMMtube	muscle
30	chr1:45117400-45129200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:45117400-45130200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr1:45117400-45130200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:45117400-45130200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:45117400-45138000	Weak transcription	Left Ventricle	heart
35	chr1:45117600-45130200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:45117800-45125200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:45117800-45125600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:45117800-45126000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:45117800-45128000	Weak transcription	Colonic Mucosa	Colon
40	chr1:45118000-45124600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr1:45118200-45130200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr1:45118400-45127600	Weak transcription	Thymus	Thymus
43	chr1:45118400-45129400	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr1:45118400-45130000	Weak transcription	GM12878-XiMat	blood
45	chr1:45118400-45130200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr1:45118600-45124400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr1:45118600-45125800	Strong transcription	Fetal Intestine Small	intestine
48	chr1:45118600-45126000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:45118600-45138600	Weak transcription	Colon Smooth Muscle	Colon
50	chr1:45118800-45122600	Weak transcription	Fetal Thymus	thymus

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