Variant report

Variant	rs529054084
Chromosome Location	chr12:104530753-104530754
allele	A/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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

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

No data

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

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

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	chr12:104495600-104530800	Weak transcription	Esophagus	oesophagus
2	chr12:104526600-104531000	Weak transcription	Lung	lung
3	chr12:104526800-104530800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:104526800-104530800	Weak transcription	Gastric	stomach
5	chr12:104526800-104531000	Weak transcription	Spleen	Spleen
6	chr12:104528600-104530800	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr12:104529000-104530800	Weak transcription	Ovary	ovary
8	chr12:104529000-104531000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:104529200-104530800	Weak transcription	Pancreas	Pancrea
10	chr12:104529200-104532400	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr12:104529400-104530800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:104529600-104530800	Flanking Active TSS	Osteobl	bone
13	chr12:104529600-104531000	Flanking Active TSS	Dnd41	blood
14	chr12:104529600-104532400	Active TSS	NHLF	lung
15	chr12:104529800-104530800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:104529800-104530800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr12:104529800-104531000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:104529800-104531000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:104529800-104531000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr12:104529800-104531000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr12:104529800-104531000	Flanking Active TSS	A549	lung
22	chr12:104529800-104532200	Active TSS	Right Atrium	heart
23	chr12:104530000-104530800	Enhancers	Primary B cells from peripheral blood	blood
24	chr12:104530000-104530800	Enhancers	Small Intestine	intestine
25	chr12:104530000-104531000	Flanking Active TSS	HSMM	muscle
26	chr12:104530000-104531000	Flanking Active TSS	HUVEC	blood vessel
27	chr12:104530000-104531200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:104530000-104531200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:104530000-104532200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:104530000-104532400	Active TSS	NHDF-Ad	bronchial
31	chr12:104530000-104532800	Active TSS	Aorta	Aorta
32	chr12:104530200-104530800	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr12:104530200-104531000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:104530200-104531000	Flanking Active TSS	Fetal Lung	lung
35	chr12:104530200-104531000	Flanking Active TSS	K562	blood
36	chr12:104530200-104531000	Flanking Active TSS	NH-A	brain
37	chr12:104530200-104531200	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr12:104530200-104531200	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr12:104530200-104531400	Active TSS	GM12878-XiMat	blood
40	chr12:104530200-104532200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:104530200-104532200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:104530200-104532200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:104530200-104532400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:104530200-104532400	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr12:104530200-104532400	Active TSS	HSMMtube	muscle
46	chr12:104530200-104532800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:104530200-104533200	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr12:104530400-104530800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
49	chr12:104530400-104530800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr12:104530400-104530800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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