Variant report

Variant	rs772571
Chromosome Location	chr12:63308908-63308909
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63300143..63303851-chr12:63306898..63309858,4	MCF-7	breast:
2	chr12:63303143..63306102-chr12:63308178..63311320,4	K562	blood:
3	chr12:63275413..63276960-chr12:63307773..63310580,2	K562	blood:
4	chr12:63306856..63308917-chr12:63326734..63330180,3	K562	blood:
5	chr12:63292677..63295227-chr12:63307980..63310635,2	MCF-7	breast:
6	chr12:63307556..63310416-chr12:63316957..63319836,2	MCF-7	breast:
7	chr12:63307451..63310079-chr12:63319442..63322699,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252660	Chromatin interaction
ENSG00000111110	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs699576	0.86[JPT][hapmap]
rs699578	0.81[CEU][hapmap];0.95[JPT][hapmap]
rs699581	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs771987	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs771989	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs772558	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs772562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs772564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs772570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs814009	0.95[CEU][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[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	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv899161	chr12:63275017-63311148	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv899162	chr12:63279750-63334242	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	nsv899163	chr12:63288343-63325988	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63287400-63309000	Weak transcription	Pancreas	Pancrea
2	chr12:63287800-63316400	Weak transcription	Fetal Intestine Small	intestine
3	chr12:63292800-63311600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:63297400-63309600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:63301200-63313400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:63301800-63309000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:63301800-63313600	Weak transcription	Aorta	Aorta
8	chr12:63303400-63313000	Weak transcription	Ovary	ovary
9	chr12:63304800-63310200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:63305000-63313400	Weak transcription	Stomach Mucosa	stomach
11	chr12:63305000-63316800	Weak transcription	Fetal Intestine Large	intestine
12	chr12:63306600-63309800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr12:63306600-63310200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr12:63306600-63313400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr12:63306800-63310000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:63306800-63314000	Enhancers	Brain Angular Gyrus	brain
17	chr12:63307000-63309600	Enhancers	H9 Cell Line	embryonic stem cell
18	chr12:63307000-63310200	Strong transcription	HepG2	liver
19	chr12:63307000-63313800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr12:63307000-63314000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:63307200-63309000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:63307200-63309400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr12:63307200-63309600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:63307200-63309800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:63307200-63311000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr12:63307200-63314000	Enhancers	Brain Anterior Caudate	brain
27	chr12:63307400-63310800	Weak transcription	Fetal Kidney	kidney
28	chr12:63307600-63309200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr12:63307800-63309200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr12:63307800-63309200	Enhancers	Brain Cingulate Gyrus	brain
31	chr12:63307800-63314400	Enhancers	Brain Hippocampus Middle	brain
32	chr12:63308000-63309400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr12:63308000-63313600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr12:63308200-63309200	Weak transcription	Left Ventricle	heart
35	chr12:63308200-63315600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr12:63308400-63309600	Enhancers	K562	blood
37	chr12:63308400-63313600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr12:63308600-63309400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr12:63308600-63309800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr12:63308600-63310600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:63308600-63313600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr12:63308600-63315800	Enhancers	Brain Substantia Nigra	brain
43	chr12:63308800-63309200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:63308800-63311400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:63308800-63311800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:63308800-63313400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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