Variant report

Variant	rs4763280
Chromosome Location	chr12:9861405-9861406
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:9786487..9787504-chr12:9860467..9861450,7	K562	blood:
2	chr12:9799365..9802259-chr12:9859677..9861748,3	MCF-7	breast:
3	chr12:9798330..9801052-chr12:9860989..9864813,3	K562	blood:
4	chr12:9800782..9802831-chr12:9859086..9861954,2	MCF-7	breast:
5	chr12:9853903..9855741-chr12:9860997..9863949,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256442	Chromatin interaction
ENSG00000256594	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1008611	0.83[ASN][1000 genomes]
rs10743821	0.83[ASN][1000 genomes]
rs10743822	0.83[ASN][1000 genomes]
rs10772060	0.89[ASN][1000 genomes]
rs11052718	0.83[ASN][1000 genomes]
rs11052785	0.83[ASN][1000 genomes]
rs12369995	1.00[ASN][1000 genomes]
rs12370579	1.00[ASN][1000 genomes]
rs12371503	1.00[ASN][1000 genomes]
rs12371981	1.00[ASN][1000 genomes]
rs12371982	1.00[ASN][1000 genomes]
rs12578698	0.83[ASN][1000 genomes]
rs12582616	0.83[ASN][1000 genomes]
rs12809752	1.00[ASN][1000 genomes]
rs12812783	1.00[ASN][1000 genomes]
rs12814560	1.00[ASN][1000 genomes]
rs12816660	1.00[ASN][1000 genomes]
rs12817550	1.00[ASN][1000 genomes]
rs12817743	1.00[ASN][1000 genomes]
rs12818179	1.00[ASN][1000 genomes]
rs12819865	1.00[ASN][1000 genomes]
rs12820674	1.00[ASN][1000 genomes]
rs12823653	1.00[ASN][1000 genomes]
rs12830448	1.00[ASN][1000 genomes]
rs12830867	1.00[ASN][1000 genomes]
rs12830878	1.00[ASN][1000 genomes]
rs1861089	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1990533	0.83[ASN][1000 genomes]
rs2080207	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2192433	0.83[ASN][1000 genomes]
rs2192434	0.83[ASN][1000 genomes]
rs2192435	0.83[ASN][1000 genomes]
rs2192439	0.89[ASN][1000 genomes]
rs2401396	0.83[ASN][1000 genomes]
rs34201389	0.83[ASN][1000 genomes]
rs34623781	0.89[ASN][1000 genomes]
rs34826829	1.00[ASN][1000 genomes]
rs35078787	1.00[ASN][1000 genomes]
rs35512621	1.00[ASN][1000 genomes]
rs4763814	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763819	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763835	0.83[ASN][1000 genomes]
rs61913428	0.83[ASN][1000 genomes]
rs66725265	1.00[ASN][1000 genomes]
rs67429242	1.00[ASN][1000 genomes]
rs71441764	1.00[ASN][1000 genomes]
rs7485402	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954062	0.89[ASN][1000 genomes]
rs7961812	1.00[ASN][1000 genomes]
rs7961903	1.00[ASN][1000 genomes]
rs7974554	1.00[ASN][1000 genomes]
rs7975557	1.00[ASN][1000 genomes]
rs7975865	1.00[ASN][1000 genomes]
rs982511	0.83[ASN][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	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv983235	chr12:9852218-9893776	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2757490	chr12:9855958-9888553	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9840600-9864600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:9841800-9863200	Weak transcription	HSMMtube	muscle
3	chr12:9855600-9862800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:9857600-9861600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:9858000-9872200	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:9859000-9870200	Enhancers	Primary B cells from cord blood	blood
7	chr12:9860400-9861800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:9860400-9861800	Flanking Active TSS	GM12878-XiMat	blood
9	chr12:9860600-9862000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:9860800-9861600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:9860800-9863000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:9860800-9863200	Weak transcription	Spleen	Spleen
13	chr12:9860800-9864400	Weak transcription	A549	lung
14	chr12:9861000-9861600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr12:9861000-9861800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr12:9861000-9862000	Enhancers	HUVEC	blood vessel
17	chr12:9861000-9862400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:9861000-9863000	Weak transcription	Placenta	Placenta
19	chr12:9861000-9873200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr12:9861000-9874200	Weak transcription	Fetal Thymus	thymus
21	chr12:9861400-9862600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:9861400-9862800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr12:9861400-9864400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr12:9861400-9864600	Weak transcription	Primary T cells from cord blood	blood

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