Variant report

Variant	rs12565820
Chromosome Location	chr1:227107201-227107202
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227104389..227108521-chr1:227123623..227129327,8	K562	blood:
2	chr1:227106069..227108861-chr1:227119624..227122007,2	K562	blood:
3	chr1:227106622..227108417-chr1:227127554..227129930,2	K562	blood:
4	chr1:227105427..227108367-chr1:227631479..227633310,2	K562	blood:

Variant related genes	Relation type
ENSG00000163050	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12564262	1.00[ASN][1000 genomes]
rs12564719	0.90[ASN][1000 genomes]
rs12566367	1.00[ASN][1000 genomes]
rs12566572	1.00[ASN][1000 genomes]
rs16846674	0.91[ASN][1000 genomes]
rs2077734	0.81[ASN][1000 genomes]
rs56070668	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227082800-227110600	Weak transcription	Fetal Brain Female	brain
2	chr1:227083200-227126600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:227088200-227108200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:227088200-227109200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:227088400-227109000	Weak transcription	Psoas Muscle	Psoas
6	chr1:227088400-227111600	Weak transcription	Spleen	Spleen
7	chr1:227088600-227109400	Weak transcription	Brain Angular Gyrus	brain
8	chr1:227088600-227109400	Weak transcription	Lung	lung
9	chr1:227088800-227108200	Weak transcription	Brain Anterior Caudate	brain
10	chr1:227088800-227108200	Weak transcription	Brain Substantia Nigra	brain
11	chr1:227088800-227111400	Weak transcription	A549	lung
12	chr1:227088800-227118600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:227092000-227111200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:227092000-227115200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:227092000-227118600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:227092200-227108400	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:227092200-227109000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:227092200-227109600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:227092200-227111600	Weak transcription	Esophagus	oesophagus
20	chr1:227092200-227116200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:227092200-227118800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:227093800-227108200	Weak transcription	HSMMtube	muscle
23	chr1:227096400-227109400	Weak transcription	Fetal Stomach	stomach
24	chr1:227097000-227107800	Weak transcription	Placenta	Placenta
25	chr1:227098600-227118600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:227098800-227109200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:227099000-227107800	Weak transcription	Liver	Liver
28	chr1:227099600-227107400	Weak transcription	Adipose Nuclei	Adipose
29	chr1:227100400-227107400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:227100800-227107800	Weak transcription	Gastric	stomach
31	chr1:227102000-227107800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:227102800-227119000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:227102800-227125800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:227103600-227110200	Weak transcription	Fetal Intestine Small	intestine
35	chr1:227103800-227110000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr1:227104000-227108000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:227104000-227108000	Weak transcription	K562	blood
38	chr1:227104000-227108200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:227106000-227107600	Strong transcription	Stomach Smooth Muscle	stomach
40	chr1:227106000-227108200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:227106400-227109800	Enhancers	Pancreas	Pancrea
42	chr1:227106600-227109600	Enhancers	HepG2	liver
43	chr1:227106800-227107600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:227107000-227109600	Enhancers	Ovary	ovary
45	chr1:227107000-227111000	Weak transcription	Aorta	Aorta
46	chr1:227107000-227112000	Weak transcription	Fetal Muscle Leg	muscle
47	chr1:227107200-227107800	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr1:227107200-227108000	Enhancers	Left Ventricle	heart
49	chr1:227107200-227108000	Enhancers	Right Ventricle	heart
50	chr1:227107200-227109600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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