Variant report

Variant	rs12065058
Chromosome Location	chr1:228876348-228876349
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	chr1:228874211..228876992-chr1:228882867..228885336,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1006322	0.81[EUR][1000 genomes]
rs1006796	0.81[EUR][1000 genomes]
rs12047916	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12402303	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16848862	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4531263	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6426515	0.83[EUR][1000 genomes]
rs6660442	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6667487	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6676800	0.83[EUR][1000 genomes]
rs7518941	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7527878	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs881298	0.80[EUR][1000 genomes]
rs9426533	0.83[EUR][1000 genomes]
rs9426583	0.81[EUR][1000 genomes]
rs9426584	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013051	chr1:228786702-228903706	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv997801	chr1:228786702-228975127	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv870365	chr1:228788356-229267904	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription 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	14 gene(s)	inside rSNPs	diseases
4	nsv998255	chr1:228791784-228919202	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv549299	chr1:228793246-229455876	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv468316	chr1:228854703-228919202	Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv549300	chr1:228854703-228919202	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228872400-228876400	Weak transcription	Hela-S3	cervix
2	chr1:228872400-228880200	Weak transcription	Left Ventricle	heart
3	chr1:228872600-228877800	Weak transcription	Primary T cells from cord blood	blood
4	chr1:228872600-228878400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:228872600-228880600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:228872600-228881200	Weak transcription	Esophagus	oesophagus
7	chr1:228872600-228884400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr1:228873200-228878400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:228873200-228879000	Weak transcription	Ovary	ovary
10	chr1:228873200-228884800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:228873400-228876400	Weak transcription	Fetal Kidney	kidney
12	chr1:228873400-228876400	Enhancers	Stomach Mucosa	stomach
13	chr1:228873400-228879000	Weak transcription	Small Intestine	intestine
14	chr1:228873600-228876600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:228873600-228876600	Genic enhancers	Pancreas	Pancrea
16	chr1:228873600-228877000	Genic enhancers	HepG2	liver
17	chr1:228873600-228877200	Genic enhancers	Fetal Thymus	thymus
18	chr1:228873600-228878000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:228873600-228878000	Weak transcription	Brain Germinal Matrix	brain
20	chr1:228873600-228878400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:228873600-228878400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:228873600-228879000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:228873600-228879000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:228873800-228876600	Genic enhancers	Stomach Smooth Muscle	stomach
25	chr1:228873800-228877200	Genic enhancers	Fetal Intestine Large	intestine
26	chr1:228873800-228878400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:228873800-228878600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr1:228873800-228879000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:228873800-228879000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:228873800-228879000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:228873800-228880200	Weak transcription	Thymus	Thymus
32	chr1:228873800-228882800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:228873800-228884200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:228873800-228884200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:228874000-228876400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:228874000-228876600	Genic enhancers	Primary monocytes fromperipheralblood	blood
37	chr1:228874000-228877200	Genic enhancers	Spleen	Spleen
38	chr1:228874000-228879200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr1:228874000-228879400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:228874000-228881800	Genic enhancers	Liver	Liver
41	chr1:228874200-228876600	Genic enhancers	Placenta	Placenta
42	chr1:228874200-228877400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr1:228874200-228878000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:228874200-228880400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:228874400-228876400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:228874400-228876600	Genic enhancers	Fetal Intestine Small	intestine
47	chr1:228874400-228877200	Genic enhancers	Duodenum Smooth Muscle	Duodenum
48	chr1:228874400-228884000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr1:228874600-228876400	Weak transcription	Adipose Nuclei	Adipose
50	chr1:228874600-228876400	Weak transcription	Colon Smooth Muscle	Colon

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