Variant report

Variant	rs12037507
Chromosome Location	chr1:223918999-223919000
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223900439..223903816-chr1:223918326..223920507,3	MCF-7	breast:
2	chr1:223918635..223922245-chr1:223925850..223929641,4	MCF-7	breast:
3	chr1:223898782..223903083-chr1:223918027..223924082,6	K562	blood:
4	chr1:223918981..223919488-chr1:223936544..223937377,2	K562	blood:
5	chr1:223904247..223905976-chr1:223916920..223919197,2	MCF-7	breast:
6	chr1:223889334..223894122-chr1:223917463..223919785,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162909	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12022914	0.83[CHB][hapmap]
rs12022934	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12023822	1.00[ASN][1000 genomes]
rs12025088	0.90[ASN][1000 genomes]
rs12026548	0.83[CHB][hapmap]
rs12027762	0.83[CHB][hapmap]
rs12034645	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs12036573	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs12046438	1.00[ASN][1000 genomes]
rs12048989	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12088254	0.82[JPT][hapmap]
rs1222142	0.85[ASN][1000 genomes]
rs1542507	0.82[CHB][hapmap]
rs1629836	0.82[JPT][hapmap]
rs16842259	0.83[CHB][hapmap]
rs28370041	1.00[ASN][1000 genomes]
rs28370177	0.83[CHB][hapmap]
rs3820481	1.00[JPT][hapmap]
rs59206866	0.98[ASN][1000 genomes]
rs7538151	0.83[CHB][hapmap]
rs8179303	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs9804140	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv873213	chr1:223885843-223924236	Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
7	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223903600-223922400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:223904400-223922400	Genic enhancers	NHLF	lung
3	chr1:223906600-223921000	Weak transcription	Fetal Brain Male	brain
4	chr1:223910800-223919800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:223914400-223921800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:223914800-223919000	Weak transcription	Brain Germinal Matrix	brain
7	chr1:223915000-223919800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:223915000-223920800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:223915000-223920800	Weak transcription	Liver	Liver
10	chr1:223915000-223921000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:223915000-223921000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:223915000-223921000	Genic enhancers	NHEK	skin
13	chr1:223915200-223919000	Weak transcription	Psoas Muscle	Psoas
14	chr1:223915200-223930800	Weak transcription	Primary T cells from cord blood	blood
15	chr1:223915400-223927200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:223915400-223933000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:223915400-223933000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:223915400-223936200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr1:223915800-223919000	Weak transcription	Pancreas	Pancrea
20	chr1:223915800-223931600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:223916200-223919000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:223916400-223919000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:223916600-223919000	Weak transcription	Colonic Mucosa	Colon
24	chr1:223916600-223919400	Weak transcription	Hela-S3	cervix
25	chr1:223916600-223927000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr1:223916600-223932600	Weak transcription	Fetal Brain Female	brain
27	chr1:223916800-223919000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:223916800-223919000	Weak transcription	Aorta	Aorta
29	chr1:223916800-223919000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr1:223916800-223919000	Weak transcription	Gastric	stomach
31	chr1:223916800-223920400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:223916800-223922400	Enhancers	Placenta Amnion	Placenta Amnion
33	chr1:223917000-223922200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:223917200-223919200	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr1:223917600-223921200	Enhancers	Placenta	Placenta
36	chr1:223917800-223919000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:223917800-223919000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
38	chr1:223917800-223919000	Enhancers	Fetal Intestine Small	intestine
39	chr1:223917800-223919400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
40	chr1:223917800-223919600	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr1:223917800-223919600	Genic enhancers	HMEC	breast
42	chr1:223917800-223920600	Weak transcription	Fetal Thymus	thymus
43	chr1:223917800-223921400	Enhancers	Fetal Muscle Leg	muscle
44	chr1:223917800-223921800	Enhancers	Brain Angular Gyrus	brain
45	chr1:223917800-223922200	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr1:223917800-223922400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:223917800-223922600	Enhancers	Fetal Lung	lung
48	chr1:223917800-223922800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr1:223918000-223919000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:223918000-223919000	Enhancers	Brain Hippocampus Middle	brain

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