Variant report

Variant	rs73091778
Chromosome Location	chr1:227256217-227256218
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227250275..227252416-chr1:227256127..227259076,3	K562	blood:
2	chr1:227231949..227233855-chr1:227255369..227258277,2	K562	blood:
3	chr1:227247700..227249846-chr1:227255373..227257295,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11802565	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11804315	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11804924	0.97[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]
rs11810417	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1355816	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846798	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846993	0.94[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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34413322	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35099852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55947609	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56168464	0.95[AFR][1000 genomes];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]
rs59523055	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59945801	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60423930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61494318	0.81[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	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087619	1.00[EUR][1000 genomes]
rs73087659	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087695	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088692	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089703	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089763	0.97[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	0.97[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]
rs73102913	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102948	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102965	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7411165	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74140237	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74143320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv997751	chr1:227196502-227263537	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1011654	chr1:227196502-227308416	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1014423	chr1:227201253-227268843	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	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
7	nsv1012482	chr1:227212024-227271750	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	nsv998420	chr1:227228591-227275031	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	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
13	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
14	nsv947386	chr1:227255580-227258757	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227154400-227294200	Weak transcription	Hela-S3	cervix
2	chr1:227178400-227271200	Weak transcription	Psoas Muscle	Psoas
3	chr1:227190600-227272600	Weak transcription	Lung	lung
4	chr1:227203000-227278800	Weak transcription	Pancreas	Pancrea
5	chr1:227209000-227272400	Weak transcription	Fetal Intestine Small	intestine
6	chr1:227209200-227301600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:227214800-227329200	Weak transcription	Right Ventricle	heart
8	chr1:227216800-227287600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:227217000-227264400	Weak transcription	NHLF	lung
10	chr1:227217000-227271400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:227217000-227278800	Weak transcription	Placenta	Placenta
12	chr1:227220600-227272600	Weak transcription	Aorta	Aorta
13	chr1:227220600-227288000	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:227220800-227256800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:227222600-227256800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:227226600-227270800	Weak transcription	Fetal Brain Female	brain
17	chr1:227226800-227260400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:227226800-227272400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:227226800-227278400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:227226800-227285600	Weak transcription	Brain Germinal Matrix	brain
21	chr1:227227000-227256600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:227227000-227272200	Weak transcription	Fetal Heart	heart
23	chr1:227227000-227282200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:227227400-227256400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:227227400-227256800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:227227400-227259800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:227227400-227272400	Weak transcription	Ovary	ovary
28	chr1:227227400-227281200	Weak transcription	Fetal Kidney	kidney
29	chr1:227227400-227284200	Weak transcription	Brain Angular Gyrus	brain
30	chr1:227227600-227259200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:227228000-227277000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr1:227232000-227256600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:227232800-227279200	Weak transcription	Stomach Mucosa	stomach
34	chr1:227235800-227256600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:227235800-227256800	Weak transcription	A549	lung
36	chr1:227235800-227257000	Weak transcription	NHDF-Ad	bronchial
37	chr1:227235800-227271000	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:227236000-227286200	Weak transcription	Fetal Brain Male	brain
39	chr1:227238200-227256800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:227238400-227270600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:227238600-227278400	Weak transcription	Brain Hippocampus Middle	brain
42	chr1:227239800-227271200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:227239800-227271400	Weak transcription	Fetal Intestine Large	intestine
44	chr1:227240000-227286800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr1:227240200-227266200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr1:227246400-227260600	Weak transcription	Osteobl	bone
47	chr1:227246400-227278400	Weak transcription	NH-A	brain
48	chr1:227247000-227260600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:227247000-227261400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:227247200-227256600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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