Variant report

Variant	rs12026027
Chromosome Location	chr1:47168052-47168053
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47150911..47153392-chr1:47166630..47169544,2	K562	blood:
2	chr1:47167694..47169718-chr1:47177678..47180403,2	MCF-7	breast:
3	chr1:47150911..47153746-chr1:47167363..47169544,2	K562	blood:
4	chr1:47166194..47168909-chr1:47169086..47171006,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159658	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10890409	0.81[ASN][1000 genomes]
rs10890412	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs10890413	0.86[ASN][1000 genomes]
rs11211334	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs11211339	0.86[ASN][1000 genomes]
rs11211340	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1139759	0.81[ASN][1000 genomes]
rs11801198	1.00[EUR][1000 genomes]
rs12029031	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs12036374	1.00[EUR][1000 genomes]
rs12038572	0.89[ASN][1000 genomes]
rs12048954	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs12071150	1.00[EUR][1000 genomes]
rs12118483	0.86[ASN][1000 genomes]
rs12401610	0.83[EUR][1000 genomes]
rs12405092	1.00[EUR][1000 genomes]
rs12563793	0.83[EUR][1000 genomes]
rs12733214	0.83[ASN][1000 genomes]
rs1440484	0.89[ASN][1000 genomes]
rs2007344	0.86[ASN][1000 genomes]
rs2218190	0.83[ASN][1000 genomes]
rs2275380	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs3737729	0.86[ASN][1000 genomes]
rs45464595	1.00[EUR][1000 genomes]
rs4646476	1.00[EUR][1000 genomes]
rs4646477	1.00[EUR][1000 genomes]
rs4646488	1.00[EUR][1000 genomes]
rs4646494	1.00[EUR][1000 genomes]
rs4646496	1.00[EUR][1000 genomes]
rs4660950	0.81[ASN][1000 genomes]
rs57200251	1.00[EUR][1000 genomes]
rs58826184	1.00[EUR][1000 genomes]
rs58929824	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47141400-47183400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:47143800-47171600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:47154600-47183400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:47155600-47169000	Weak transcription	Stomach Mucosa	stomach
5	chr1:47157600-47172200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:47158200-47172000	Weak transcription	Brain Angular Gyrus	brain
7	chr1:47158800-47171000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:47159200-47182800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:47159400-47171200	Weak transcription	Right Ventricle	heart
10	chr1:47159400-47172200	Weak transcription	Psoas Muscle	Psoas
11	chr1:47159600-47168200	Weak transcription	HMEC	breast
12	chr1:47160600-47169000	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:47160600-47169400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:47160600-47173600	Strong transcription	Primary T cells from cord blood	blood
15	chr1:47160600-47174000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:47160600-47181200	Strong transcription	Dnd41	blood
17	chr1:47160800-47168600	Strong transcription	Left Ventricle	heart
18	chr1:47160800-47174000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:47160800-47175400	Strong transcription	Liver	Liver
20	chr1:47160800-47181800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:47160800-47182200	Strong transcription	Primary B cells from cord blood	blood
22	chr1:47160800-47182200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:47160800-47182400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:47160800-47182600	Strong transcription	Placenta	Placenta
25	chr1:47161000-47173400	Strong transcription	Primary hematopoietic stem cells	blood
26	chr1:47161000-47173800	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:47161200-47182200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr1:47161400-47182200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:47161400-47182800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:47161600-47170800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:47161800-47169800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:47161800-47170600	Weak transcription	Fetal Intestine Small	intestine
33	chr1:47162000-47169800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:47162200-47168200	Weak transcription	Fetal Heart	heart
35	chr1:47162200-47170000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr1:47162200-47170200	Weak transcription	Small Intestine	intestine
37	chr1:47162400-47168200	Weak transcription	Fetal Kidney	kidney
38	chr1:47162400-47169200	Weak transcription	Spleen	Spleen
39	chr1:47162400-47169200	Weak transcription	A549	lung
40	chr1:47162400-47169800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:47162400-47170200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr1:47162400-47170600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:47162400-47170800	Weak transcription	Fetal Brain Male	brain
44	chr1:47162400-47171000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:47162600-47170800	Weak transcription	HSMMtube	muscle
46	chr1:47162800-47168200	Weak transcription	Brain Substantia Nigra	brain
47	chr1:47162800-47169000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr1:47162800-47169200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:47162800-47169600	Weak transcription	Hela-S3	cervix
50	chr1:47162800-47170000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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