Variant report

Variant	rs7970701
Chromosome Location	chr12:57323388-57323389
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57315576..57318465-chr12:57319444..57323573,6	MCF-7	breast:
2	chr12:57321586..57325004-chr12:57326081..57330015,6	MCF-7	breast:
3	chr12:57257052..57259675-chr12:57321965..57323642,2	MCF-7	breast:
4	chr12:57321799..57323411-chr12:57480929..57483874,2	MCF-7	breast:
5	chr12:57316244..57318021-chr12:57321769..57323601,2	K562	blood:
6	chr12:57315724..57318021-chr12:57321769..57324066,3	K562	blood:
7	chr12:57322265..57324003-chr12:57330480..57332983,2	MCF-7	breast:
8	chr12:57319135..57322195-chr12:57322954..57326796,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166886	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000170426	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1072669	0.85[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs10876960	0.84[CHB][hapmap];0.84[ASN][1000 genomes]
rs11172071	0.84[JPT][hapmap]
rs11172072	0.86[ASN][1000 genomes]
rs11172076	0.81[ASN][1000 genomes]
rs1601405	0.85[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs17119173	0.82[JPT][hapmap]
rs1825514	0.84[ASN][1000 genomes]
rs1872436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2629413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3782331	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs57926126	0.84[ASN][1000 genomes]
rs58009868	0.84[ASN][1000 genomes]
rs59665366	0.84[ASN][1000 genomes]
rs60101051	0.84[ASN][1000 genomes]
rs719749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs719750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7314055	0.88[JPT][hapmap]
rs7314151	0.85[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs7314262	0.85[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs840160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs840162	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs840163	0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs844469	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs863459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs864541	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs901069	0.85[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:25 , 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	chr12:57317400-57323400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:57321200-57324000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:57321400-57325400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:57321400-57325400	Enhancers	K562	blood
6	chr12:57321400-57327200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:57321400-57328400	Enhancers	Fetal Thymus	thymus
8	chr12:57321600-57323600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:57322000-57328800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:57322200-57325200	Weak transcription	Primary T cells from cord blood	blood
11	chr12:57322400-57324800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr12:57322400-57325400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:57322400-57325400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:57322400-57325400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:57322600-57323800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:57322600-57325200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr12:57322600-57325400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:57322600-57325400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:57322600-57325400	Weak transcription	Fetal Kidney	kidney
20	chr12:57322800-57323800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr12:57322800-57325400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:57322800-57325400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:57323000-57324000	Strong transcription	Esophagus	oesophagus
24	chr12:57323000-57324200	Enhancers	Spleen	Spleen
25	chr12:57323200-57325600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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