Variant report

Variant	rs12564719
Chromosome Location	chr1:227089547-227089548
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227088122..227093330-chr1:227093838..227098256,5	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12564262	0.90[ASN][1000 genomes]
rs12565820	0.90[ASN][1000 genomes]
rs12566367	0.90[ASN][1000 genomes]
rs12566572	0.90[ASN][1000 genomes]
rs12567464	1.00[GIH][hapmap]
rs16846674	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs16846716	1.00[GIH][hapmap]
rs16846731	1.00[GIH][hapmap]
rs16846733	1.00[GIH][hapmap]
rs2077734	1.00[CHB][hapmap]
rs56070668	0.90[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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227059800-227095000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:227069400-227102800	Weak transcription	K562	blood
3	chr1:227071200-227091400	Weak transcription	Osteobl	bone
4	chr1:227071800-227102400	Weak transcription	Small Intestine	intestine
5	chr1:227072200-227091800	Weak transcription	Fetal Kidney	kidney
6	chr1:227072200-227100400	Weak transcription	Stomach Mucosa	stomach
7	chr1:227073400-227092200	Strong transcription	Pancreas	Pancrea
8	chr1:227073800-227100600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:227074200-227091800	Weak transcription	Fetal Heart	heart
10	chr1:227074800-227090000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr1:227074800-227090200	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:227075200-227091800	Weak transcription	Right Atrium	heart
13	chr1:227078600-227091600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:227079800-227097200	Weak transcription	Brain Germinal Matrix	brain
15	chr1:227080000-227094800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:227080200-227090600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:227080400-227090000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr1:227080600-227089800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr1:227080800-227093600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:227082400-227091000	Weak transcription	NHLF	lung
21	chr1:227082800-227110600	Weak transcription	Fetal Brain Female	brain
22	chr1:227083000-227089800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:227083000-227092000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:227083200-227091400	Weak transcription	Colonic Mucosa	Colon
25	chr1:227083200-227099400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:227083200-227126600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:227083400-227090200	Weak transcription	NHEK	skin
28	chr1:227083800-227097200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:227083800-227097400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:227084000-227093400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:227084200-227091400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:227084800-227096800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:227085600-227093200	Weak transcription	Fetal Intestine Large	intestine
34	chr1:227086400-227091400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:227087400-227090200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:227087400-227090200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:227087400-227090600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:227087400-227090600	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:227087600-227092200	Weak transcription	GM12878-XiMat	blood
40	chr1:227087800-227091200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:227087800-227096400	Weak transcription	Placenta	Placenta
42	chr1:227088000-227091400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:227088000-227095000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:227088200-227089600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:227088200-227089800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:227088200-227089800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:227088200-227091600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:227088200-227091800	Weak transcription	Esophagus	oesophagus
49	chr1:227088200-227091800	Weak transcription	Ovary	ovary
50	chr1:227088200-227093400	Weak transcription	H1 Cell Line	embryonic stem cell

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