Variant report

Variant	rs73094355
Chromosome Location	chr1:227400348-227400349
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	chr1:227361494..227363417-chr1:227400194..227402831,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11800447	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11807094	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11808928	0.81[AFR][1000 genomes]
rs11808962	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11811100	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12402456	0.81[AFR][1000 genomes]
rs16847249	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1888830	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56352806	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56389454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57454791	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57752854	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58594824	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58912997	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59136460	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60483746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73086792	0.85[AFR][1000 genomes]
rs73089746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091757	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73092520	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092602	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094331	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094351	0.81[AFR][1000 genomes]
rs73096883	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098394	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73100309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73100813	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102918	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74140155	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74140233	0.85[AMR][1000 genomes]
rs74140278	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74140289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7525352	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2830098	chr1:227295716-227422234	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227333400-227405600	Weak transcription	Adipose Nuclei	Adipose
2	chr1:227343200-227400400	Weak transcription	A549	lung
3	chr1:227346800-227403800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:227346800-227405800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:227346800-227406800	Weak transcription	Fetal Kidney	kidney
6	chr1:227348200-227401600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:227348200-227408400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:227348200-227412200	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:227360800-227401200	Weak transcription	Hela-S3	cervix
10	chr1:227370000-227413600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:227374400-227401600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:227374600-227401600	Weak transcription	Left Ventricle	heart
13	chr1:227375600-227410800	Weak transcription	HepG2	liver
14	chr1:227376600-227412600	Weak transcription	Fetal Lung	lung
15	chr1:227378400-227401000	Weak transcription	Placenta	Placenta
16	chr1:227380200-227402200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:227380200-227405200	Weak transcription	Gastric	stomach
18	chr1:227380200-227421800	Weak transcription	Ovary	ovary
19	chr1:227380400-227404000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:227380400-227406800	Weak transcription	NHDF-Ad	bronchial
21	chr1:227381600-227406600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr1:227382000-227414000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:227383600-227421800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:227386200-227433400	Weak transcription	Fetal Stomach	stomach
25	chr1:227386400-227413800	Weak transcription	Brain Anterior Caudate	brain
26	chr1:227386800-227406600	Weak transcription	Fetal Intestine Small	intestine
27	chr1:227387000-227413600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:227387400-227414000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:227390600-227413600	Weak transcription	Small Intestine	intestine
30	chr1:227396800-227413600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:227397000-227406800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:227397800-227400400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:227397800-227400400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:227398000-227400400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:227398000-227400400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:227398000-227400400	ZNF genes & repeats	K562	blood
37	chr1:227398200-227413600	Weak transcription	NHLF	lung
38	chr1:227398400-227400800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:227398600-227401600	Weak transcription	Pancreas	Pancrea
40	chr1:227398600-227407000	Weak transcription	Lung	lung
41	chr1:227398800-227401400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:227398800-227405600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:227398800-227407000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:227398800-227411200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr1:227398800-227413800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:227399000-227402200	Weak transcription	Psoas Muscle	Psoas
47	chr1:227399000-227406400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:227399000-227406400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:227399000-227408800	Weak transcription	Liver	Liver
50	chr1:227399200-227400400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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