Variant report

Variant	rs12564262
Chromosome Location	chr1:227096158-227096159
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227088122..227093330-chr1:227093838..227098256,5	K562	blood:
2	chr1:227094916..227097183-chr1:227124876..227126508,2	K562	blood:
3	chr1:227095714..227098337-chr1:227098632..227100876,2	K562	blood:

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

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

rs_ID	r²[population]
rs12564719	0.90[ASN][1000 genomes]
rs12565820	1.00[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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227069400-227102800	Weak transcription	K562	blood
2	chr1:227071800-227102400	Weak transcription	Small Intestine	intestine
3	chr1:227072200-227100400	Weak transcription	Stomach Mucosa	stomach
4	chr1:227073800-227100600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:227079800-227097200	Weak transcription	Brain Germinal Matrix	brain
6	chr1:227082800-227110600	Weak transcription	Fetal Brain Female	brain
7	chr1:227083200-227099400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:227083200-227126600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:227083800-227097200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:227083800-227097400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:227084800-227096800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:227087800-227096400	Weak transcription	Placenta	Placenta
13	chr1:227088200-227108200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:227088200-227109200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:227088400-227097000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:227088400-227109000	Weak transcription	Psoas Muscle	Psoas
17	chr1:227088400-227111600	Weak transcription	Spleen	Spleen
18	chr1:227088600-227097000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:227088600-227100000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:227088600-227100400	Weak transcription	Gastric	stomach
21	chr1:227088600-227107200	Weak transcription	Right Ventricle	heart
22	chr1:227088600-227109400	Weak transcription	Brain Angular Gyrus	brain
23	chr1:227088600-227109400	Weak transcription	Lung	lung
24	chr1:227088800-227096800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:227088800-227098400	Weak transcription	Liver	Liver
26	chr1:227088800-227102400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:227088800-227103000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:227088800-227108200	Weak transcription	Brain Anterior Caudate	brain
29	chr1:227088800-227108200	Weak transcription	Brain Substantia Nigra	brain
30	chr1:227088800-227111400	Weak transcription	A549	lung
31	chr1:227088800-227118600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:227089000-227100200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:227089200-227100400	Weak transcription	Fetal Intestine Small	intestine
34	chr1:227089600-227100200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:227090600-227098000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:227090600-227102200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:227090600-227102600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:227091400-227102400	Weak transcription	NHLF	lung
39	chr1:227092000-227103600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:227092000-227111200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:227092000-227115200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:227092000-227118600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:227092200-227096200	Weak transcription	Adipose Nuclei	Adipose
44	chr1:227092200-227101000	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:227092200-227102000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:227092200-227108400	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:227092200-227109000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:227092200-227109600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:227092200-227111600	Weak transcription	Esophagus	oesophagus
50	chr1:227092200-227116200	Weak transcription	Rectal Smooth Muscle	rectum

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