Variant report

Variant	rs59523055
Chromosome Location	chr1:227328005-227328006
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227321877..227323599-chr1:227327325..227328877,2	K562	blood:
2	chr1:227327635..227329514-chr1:227357311..227359633,2	K562	blood:
3	chr1:227327253..227330264-chr1:227332146..227336856,4	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11802565	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11804315	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11804924	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11807166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11807511	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11807555	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11807766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11808055	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11808613	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11810417	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1355816	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846798	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846993	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847106	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847132	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1888829	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34413322	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35099852	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4364839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55947609	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56168464	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57660509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57717956	1.00[EUR][1000 genomes]
rs57895961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58077821	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59396012	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59945801	1.00[AMR][1000 genomes]
rs60039374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60423930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60906739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61494318	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61588040	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73086744	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087619	1.00[EUR][1000 genomes]
rs73087659	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087695	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088692	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089703	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089763	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090609	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091744	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091778	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73092512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094365	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094390	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73096314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73100303	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102948	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102965	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7411165	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74140237	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74143320	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv832792	chr1:227211378-227364992	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv873239	chr1:227222125-227361072	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv468227	chr1:227223736-227340790	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv549269	chr1:227223736-227340790	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv873240	chr1:227228946-227361072	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv873241	chr1:227242247-227361072	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv549270	chr1:227290139-227361072	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	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
11	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

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227214800-227329200	Weak transcription	Right Ventricle	heart
2	chr1:227259400-227349000	Weak transcription	Colonic Mucosa	Colon
3	chr1:227272800-227331000	Weak transcription	Lung	lung
4	chr1:227286400-227328200	Weak transcription	Brain Germinal Matrix	brain
5	chr1:227287400-227360800	Weak transcription	Psoas Muscle	Psoas
6	chr1:227288200-227332400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:227288400-227343000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:227288400-227398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:227288600-227328200	Weak transcription	Fetal Stomach	stomach
10	chr1:227288600-227332400	Weak transcription	NHLF	lung
11	chr1:227288600-227333600	Weak transcription	Esophagus	oesophagus
12	chr1:227288800-227330000	Weak transcription	NHDF-Ad	bronchial
13	chr1:227295200-227346400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:227298600-227351800	Weak transcription	Hela-S3	cervix
15	chr1:227299800-227332600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:227300000-227328600	Weak transcription	Fetal Brain Female	brain
17	chr1:227300000-227329200	Weak transcription	Aorta	Aorta
18	chr1:227300000-227333800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:227300000-227379800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:227300200-227334400	Weak transcription	Stomach Mucosa	stomach
21	chr1:227311000-227329200	Weak transcription	Pancreas	Pancrea
22	chr1:227311000-227329400	Weak transcription	Fetal Intestine Small	intestine
23	chr1:227314200-227329400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:227316600-227352200	Weak transcription	Gastric	stomach
25	chr1:227316800-227328200	Weak transcription	Left Ventricle	heart
26	chr1:227316800-227328400	Weak transcription	Fetal Muscle Leg	muscle
27	chr1:227316800-227329000	Weak transcription	Placenta	Placenta
28	chr1:227316800-227329200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr1:227316800-227331000	Weak transcription	HSMMtube	muscle
30	chr1:227317000-227374200	Weak transcription	HepG2	liver
31	chr1:227317200-227328200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:227317200-227331000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:227317600-227331000	Weak transcription	NHEK	skin
34	chr1:227318200-227329000	Weak transcription	Fetal Kidney	kidney
35	chr1:227319600-227332400	Weak transcription	Brain Angular Gyrus	brain
36	chr1:227319800-227330600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:227323200-227342600	Weak transcription	Colon Smooth Muscle	Colon
38	chr1:227323200-227346400	Weak transcription	Brain Substantia Nigra	brain
39	chr1:227323400-227328600	Weak transcription	Ovary	ovary
40	chr1:227323400-227330600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:227324200-227348400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr1:227325200-227333800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:227325400-227333400	Strong transcription	Adipose Nuclei	Adipose
44	chr1:227325400-227334400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:227325400-227334800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:227325400-227335200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:227325600-227333600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:227325600-227333600	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr1:227325800-227328600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr1:227326000-227329600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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