Variant report

Variant	rs11161544
Chromosome Location	chr1:85654365-85654366
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	chr1:85648785..85651613-chr1:85652965..85656068,3	K562	blood:
2	chr1:85653773..85655948-chr1:85662257..85664650,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11161536	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11161537	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11161546	1.00[AMR][1000 genomes]
rs11161568	1.00[MEX][hapmap]
rs11800577	1.00[MEX][hapmap]
rs12073567	0.85[AMR][1000 genomes]
rs12075407	1.00[AMR][1000 genomes]
rs12083953	1.00[AMR][1000 genomes]
rs12087427	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12096033	0.85[AFR][1000 genomes]
rs58859506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72482805	0.89[AFR][1000 genomes]
rs72950882	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950887	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950898	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952616	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952618	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952624	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952634	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7513769	0.89[AFR][1000 genomes]
rs7533496	1.00[MEX][hapmap]

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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS 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 miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv1792086	chr1:85644478-85667608	Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85608600-85655200	Weak transcription	Aorta	Aorta
2	chr1:85615400-85655200	Weak transcription	Lung	lung
3	chr1:85615800-85665800	Weak transcription	Esophagus	oesophagus
4	chr1:85619000-85655000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:85625600-85654600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:85626800-85655600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:85627200-85657400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:85627400-85655800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:85627400-85663000	Weak transcription	NHEK	skin
10	chr1:85627800-85655800	Weak transcription	NHDF-Ad	bronchial
11	chr1:85627800-85664400	Weak transcription	Osteobl	bone
12	chr1:85633400-85655000	Weak transcription	Fetal Intestine Small	intestine
13	chr1:85634000-85655200	Weak transcription	Fetal Stomach	stomach
14	chr1:85638400-85654800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:85638600-85655200	Weak transcription	Left Ventricle	heart
16	chr1:85639000-85665400	Weak transcription	Placenta	Placenta
17	chr1:85642000-85655800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:85643200-85658800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:85644200-85664400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:85645400-85654800	Weak transcription	NHLF	lung
21	chr1:85645600-85655800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:85645800-85659400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:85645800-85663800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:85646000-85655800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:85646000-85659000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr1:85646000-85661400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:85646000-85664800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr1:85646200-85663600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:85646600-85665200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr1:85646800-85663800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:85647000-85658200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:85647000-85661400	Weak transcription	Right Ventricle	heart
33	chr1:85647200-85664400	Weak transcription	Fetal Kidney	kidney
34	chr1:85648400-85665200	Weak transcription	Ovary	ovary
35	chr1:85648400-85665200	Weak transcription	HSMM	muscle
36	chr1:85648600-85655000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:85648600-85655000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:85648600-85655200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr1:85648600-85655200	Weak transcription	Adipose Nuclei	Adipose
40	chr1:85648600-85661200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr1:85648800-85654400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:85648800-85654400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:85648800-85654400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:85648800-85654400	Weak transcription	Fetal Intestine Large	intestine
45	chr1:85648800-85654600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:85648800-85654800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:85648800-85654800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr1:85648800-85655200	Weak transcription	Liver	Liver
49	chr1:85648800-85655600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:85648800-85655600	Weak transcription	K562	blood

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