Variant report

Variant	rs11803301
Chromosome Location	chr1:175959118-175959119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10158829	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10494496	0.97[ASN][1000 genomes]
rs10737316	0.94[ASN][1000 genomes]
rs10798431	0.94[ASN][1000 genomes]
rs10798433	0.94[ASN][1000 genomes]
rs10798435	0.88[ASN][1000 genomes]
rs11804926	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11806468	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11809136	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11809835	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12239888	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1522637	0.88[ASN][1000 genomes]
rs16849522	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2861629	0.88[ASN][1000 genomes]
rs3845368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4304533	0.94[ASN][1000 genomes]
rs4543747	0.88[ASN][1000 genomes]
rs4650936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4652140	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4652141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4652142	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4652144	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4652145	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4652148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4652150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4652151	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4652152	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55969691	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55979360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56952885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56981673	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58178699	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58305404	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58399286	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58743849	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59373738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60086820	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61132016	0.82[ASN][1000 genomes]
rs61451700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6425370	0.94[ASN][1000 genomes]
rs73035644	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73035646	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73038827	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73038833	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73040940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040951	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73042718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73042723	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73042728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73042741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73042749	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127189	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74127190	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7521561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7522442	0.88[ASN][1000 genomes]
rs7536464	0.88[ASN][1000 genomes]
rs7543769	0.94[ASN][1000 genomes]
rs7543882	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9792842	0.93[AMR][1000 genomes];1.00[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	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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	nsv872561	chr1:175949646-176092167	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175906400-175962600	Weak transcription	NH-A	brain
2	chr1:175908000-175959400	Weak transcription	NHEK	skin
3	chr1:175946000-175996000	Weak transcription	HMEC	breast
4	chr1:175948200-175961400	Weak transcription	NHLF	lung
5	chr1:175950000-175961200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:175953200-175960000	Weak transcription	Fetal Brain Male	brain
7	chr1:175953600-175960800	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:175953800-175961000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:175953800-175962000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:175953800-175999600	Weak transcription	Colonic Mucosa	Colon
11	chr1:175954000-175959400	Weak transcription	Spleen	Spleen
12	chr1:175954000-175959600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:175954000-175959800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:175954000-175960000	Weak transcription	Fetal Stomach	stomach
15	chr1:175954000-175960200	Weak transcription	Gastric	stomach
16	chr1:175954000-175960200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:175954000-175961000	Weak transcription	Esophagus	oesophagus
18	chr1:175954000-175962000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:175954000-175962000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:175954000-175963600	Weak transcription	Lung	lung
21	chr1:175954000-175977800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:175954000-175978000	Weak transcription	Left Ventricle	heart
23	chr1:175954000-175987800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:175954200-175959200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:175954200-175960600	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:175954200-175961600	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:175954200-175962000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:175954400-175959800	Weak transcription	Brain Germinal Matrix	brain
29	chr1:175954600-175960400	Weak transcription	A549	lung
30	chr1:175954600-175964600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:175954800-175959200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:175954800-175959400	Weak transcription	Thymus	Thymus
33	chr1:175954800-175961000	Strong transcription	Primary B cells from cord blood	blood
34	chr1:175954800-175961000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:175954800-175961800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:175954800-175962200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:175954800-175963000	Weak transcription	Brain Anterior Caudate	brain
38	chr1:175954800-175968600	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:175955000-175959200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr1:175955000-175959800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:175955000-175960600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr1:175955000-175962000	Weak transcription	Fetal Intestine Small	intestine
43	chr1:175955000-175962200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:175955000-175963800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:175955400-175959400	Strong transcription	Primary hematopoietic stem cells	blood
46	chr1:175955400-175961600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:175956000-175960200	Weak transcription	Fetal Kidney	kidney
48	chr1:175956000-175963000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:175956000-175963400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:175956200-175959400	Weak transcription	Hela-S3	cervix

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