Variant report

Variant	rs7979713
Chromosome Location	chr12:104530806-104530807
allele	A/C
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104530782..104534411-chr12:104679881..104682289,3	K562	blood:
2	chr12:104322684..104325586-chr12:104530441..104532019,2	K562	blood:
3	chr12:104529689..104531446-chr12:104719514..104721289,2	K562	blood:
4	chr12:104456193..104459744-chr12:104529847..104533076,6	K562	blood:
5	chr12:104348297..104351124-chr12:104530392..104533056,3	MCF-7	breast:
6	chr12:104529986..104533486-chr12:104678703..104682517,5	MCF-7	breast:
7	chr12:104510515..104519727-chr12:104525085..104533754,15	MCF-7	breast:
8	chr12:104528672..104531458-chr12:104545242..104548166,2	K562	blood:
9	chr12:104528672..104531458-chr12:104545242..104548166,3	K562	blood:
10	chr12:104528011..104530810-chr12:104621683..104623795,2	K562	blood:
11	chr12:104456335..104459744-chr12:104529847..104533076,5	K562	blood:
12	chr12:104481200..104483346-chr12:104529918..104531545,2	K562	blood:
13	chr12:104356409..104362053-chr12:104528975..104533138,7	MCF-7	breast:
14	chr12:104530438..104533662-chr12:104564030..104567253,5	K562	blood:
15	chr12:104530514..104533012-chr12:104679009..104681675,2	K562	blood:
16	chr12:104490343..104492832-chr12:104530682..104533569,2	MCF-7	breast:
17	chr12:104530672..104533179-chr6:154830934..154833113,2	MCF-7	breast:
18	chr12:104528832..104532197-chr12:105351511..105353407,3	MCF-7	breast:
19	chr12:104487179..104490226-chr12:104527814..104531447,3	K562	blood:
20	chr12:104530239..104532383-chr12:105499797..105502736,2	MCF-7	breast:
21	chr12:104529888..104531745-chr12:104641591..104644080,2	MCF-7	breast:
22	chr12:104530429..104534144-chr12:104679811..104684673,6	MCF-7	breast:
23	chr12:104455182..104458865-chr12:104529769..104532559,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000120820	Chromatin interaction
ENSG00000199415	Chromatin interaction
ENSG00000265072	Chromatin interaction
ENSG00000111727	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000257999	Chromatin interaction
ENSG00000136051	Chromatin interaction
ENSG00000136052	Chromatin interaction
ENSG00000153721	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000257193	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10861174	0.82[ASN][1000 genomes]
rs11111949	1.00[CHB][hapmap]
rs11832165	0.87[ASN][1000 genomes]
rs11833441	0.87[ASN][1000 genomes]
rs11837739	0.87[AMR][1000 genomes]
rs11838096	0.87[ASN][1000 genomes]
rs11838099	0.87[ASN][1000 genomes]
rs12299988	1.00[CHB][hapmap]
rs17035284	0.87[ASN][1000 genomes]
rs17192938	0.81[EUR][1000 genomes]
rs17193036	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17193064	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17193219	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17805891	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17806516	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17806577	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs41453549	1.00[CHB][hapmap]
rs4257050	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57036458	0.87[ASN][1000 genomes]
rs58420147	0.87[ASN][1000 genomes]
rs59097029	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59714382	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61116111	0.87[ASN][1000 genomes]
rs61234792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61440530	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61485460	0.87[ASN][1000 genomes]
rs61497238	0.87[ASN][1000 genomes]
rs61610230	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61665972	0.87[ASN][1000 genomes]
rs7303284	1.00[CHB][hapmap]
rs7313573	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7958103	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823607	chr12:104506318-104549541	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a
2	esv1816017	chr12:104510676-104531860	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a
3	nsv1045725	chr12:104524153-104614108	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
4	nsv541586	chr12:104524153-104614108	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
5	nsv560047	chr12:104529349-104531705	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	29 gene(s)	inside rSNPs	n/a
6	esv1795002	chr12:104529349-104532159	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
7	esv1837667	chr12:104529349-104532159	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
8	esv1841869	chr12:104529349-104532159	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
9	esv3378083	chr12:104530222-104533220	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
10	nsv560048	chr12:104530548-104532159	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
11	esv3356986	chr12:104530722-104533070	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104526600-104531000	Weak transcription	Lung	lung
2	chr12:104526800-104531000	Weak transcription	Spleen	Spleen
3	chr12:104529000-104531000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:104529200-104532400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr12:104529600-104531000	Flanking Active TSS	Dnd41	blood
6	chr12:104529600-104532400	Active TSS	NHLF	lung
7	chr12:104529800-104531000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:104529800-104531000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:104529800-104531000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr12:104529800-104531000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr12:104529800-104531000	Flanking Active TSS	A549	lung
12	chr12:104529800-104532200	Active TSS	Right Atrium	heart
13	chr12:104530000-104531000	Flanking Active TSS	HSMM	muscle
14	chr12:104530000-104531000	Flanking Active TSS	HUVEC	blood vessel
15	chr12:104530000-104531200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:104530000-104531200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:104530000-104532200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:104530000-104532400	Active TSS	NHDF-Ad	bronchial
19	chr12:104530000-104532800	Active TSS	Aorta	Aorta
20	chr12:104530200-104531000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:104530200-104531000	Flanking Active TSS	Fetal Lung	lung
22	chr12:104530200-104531000	Flanking Active TSS	K562	blood
23	chr12:104530200-104531000	Flanking Active TSS	NH-A	brain
24	chr12:104530200-104531200	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr12:104530200-104531200	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr12:104530200-104531400	Active TSS	GM12878-XiMat	blood
27	chr12:104530200-104532200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:104530200-104532200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:104530200-104532200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:104530200-104532400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:104530200-104532400	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr12:104530200-104532400	Active TSS	HSMMtube	muscle
33	chr12:104530200-104532800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:104530200-104533200	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr12:104530400-104531000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr12:104530400-104531000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr12:104530400-104531000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:104530400-104531000	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr12:104530400-104531000	Flanking Active TSS	Brain Cingulate Gyrus	brain
40	chr12:104530400-104531000	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr12:104530400-104531000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr12:104530400-104531000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr12:104530400-104531000	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr12:104530400-104531000	Flanking Active TSS	Thymus	Thymus
45	chr12:104530400-104531000	Flanking Active TSS	Hela-S3	cervix
46	chr12:104530400-104531000	Flanking Active TSS	NHEK	skin
47	chr12:104530400-104531200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr12:104530400-104531200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr12:104530400-104531200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr12:104530400-104531200	Flanking Active TSS	Adipose Nuclei	Adipose

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