Variant report

Variant	rs17125765
Chromosome Location	chr12:51823026-51823027
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51816910..51819312-chr12:51823007..51825195,2	MCF-7	breast:
2	chr12:51820790..51823778-chr12:51920879..51923162,2	MCF-7	breast:
3	chr12:51822341..51825203-chr12:51834467..51836130,2	MCF-7	breast:
4	chr12:51816861..51818635-chr12:51821373..51823097,2	K562	blood:

Variant related genes	Relation type
ENSG00000271065	Chromatin interaction
ENSG00000050438	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17125750	1.00[AMR][1000 genomes]
rs17125848	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17125861	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17125887	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57240461	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59873570	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs767336	1.00[AMR][1000 genomes]
rs873674	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1038285	chr12:51762953-51916723	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1045796	chr12:51794043-51844027	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51819000-51824800	Weak transcription	Pancreas	Pancrea
2	chr12:51819000-51860800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:51819200-51823200	Weak transcription	GM12878-XiMat	blood
4	chr12:51819200-51824200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:51819400-51823400	Weak transcription	Osteobl	bone
6	chr12:51819400-51823800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:51819400-51826800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:51819400-51827800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:51819800-51827000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:51820000-51826600	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:51820000-51826600	Weak transcription	Brain Substantia Nigra	brain
12	chr12:51820200-51826600	Weak transcription	Brain Anterior Caudate	brain
13	chr12:51820200-51827000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:51820600-51826600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:51820600-51826600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:51820600-51827000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:51820600-51842000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:51820600-51844400	Weak transcription	Brain Germinal Matrix	brain
19	chr12:51821200-51826800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:51821400-51826600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:51821800-51824200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:51821800-51826600	Weak transcription	Brain Angular Gyrus	brain
23	chr12:51821800-51826800	Weak transcription	Fetal Brain Male	brain
24	chr12:51822400-51823600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:51822400-51827000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:51822600-51823600	Weak transcription	Stomach Mucosa	stomach
27	chr12:51822600-51826400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:51822600-51834600	Weak transcription	Fetal Brain Female	brain
29	chr12:51823000-51823200	Enhancers	Gastric	stomach
30	chr12:51823000-51824600	Enhancers	Primary B cells from peripheral blood	blood
31	chr12:51823000-51825000	Enhancers	Pancreatic Islets	Pancreatic Islet

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