Variant report

Variant	rs10876957
Chromosome Location	chr12:57324078-57324079
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57318495..57320635-chr12:57323936..57326743,2	K562	blood:
2	chr12:57321586..57325004-chr12:57326081..57330015,6	MCF-7	breast:
3	chr12:57319135..57322195-chr12:57322954..57326796,4	K562	blood:

Variant related genes	Relation type
ENSG00000170426	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10876958	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10876959	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10876961	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11172045	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12312254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12426808	1.00[EUR][1000 genomes]
rs17119152	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv438213	chr12:57319810-57324496	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1043846	chr12:57323709-57377509	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57316400-57326800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr12:57321400-57325400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:57321400-57325400	Enhancers	K562	blood
4	chr12:57321400-57327200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:57321400-57328400	Enhancers	Fetal Thymus	thymus
6	chr12:57322000-57328800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:57322200-57325200	Weak transcription	Primary T cells from cord blood	blood
8	chr12:57322400-57324800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr12:57322400-57325400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:57322400-57325400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:57322400-57325400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:57322600-57325200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr12:57322600-57325400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:57322600-57325400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:57322600-57325400	Weak transcription	Fetal Kidney	kidney
16	chr12:57322800-57325400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:57322800-57325400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:57323000-57324200	Enhancers	Spleen	Spleen
19	chr12:57323200-57325600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:57323400-57324400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:57323600-57325400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:57323800-57324400	Enhancers	GM12878-XiMat	blood
23	chr12:57323800-57325400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:57323800-57325400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr12:57324000-57325400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:57324000-57325400	Weak transcription	Esophagus	oesophagus
27	chr12:57324000-57325400	Weak transcription	Placenta	Placenta

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