Variant report

Variant	rs549341643
Chromosome Location	chr12:104530116-104530117
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104529689..104531446-chr12:104719514..104721289,2	K562	blood:
2	chr12:104456193..104459744-chr12:104529847..104533076,6	K562	blood:
3	chr12:104529986..104533486-chr12:104678703..104682517,5	MCF-7	breast:
4	chr12:104510515..104519727-chr12:104525085..104533754,15	MCF-7	breast:
5	chr12:104528672..104531458-chr12:104545242..104548166,2	K562	blood:
6	chr12:104528672..104531458-chr12:104545242..104548166,3	K562	blood:
7	chr12:104528011..104530810-chr12:104621683..104623795,2	K562	blood:
8	chr12:104456335..104459744-chr12:104529847..104533076,5	K562	blood:
9	chr12:104481200..104483346-chr12:104529918..104531545,2	K562	blood:
10	chr12:104356409..104362053-chr12:104528975..104533138,7	MCF-7	breast:
11	chr12:104528832..104532197-chr12:105351511..105353407,3	MCF-7	breast:
12	chr12:104487179..104490226-chr12:104527814..104531447,3	K562	blood:
13	chr12:104529888..104531745-chr12:104641591..104644080,2	MCF-7	breast:
14	chr12:104455182..104458865-chr12:104529769..104532559,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000139372	Chromatin interaction
ENSG00000120820	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000136052	Chromatin interaction
ENSG00000111727	Chromatin interaction
ENSG00000199415	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104493800-104530600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:104495600-104530800	Weak transcription	Esophagus	oesophagus
3	chr12:104520000-104530400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:104523600-104530600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:104523800-104530400	Enhancers	Fetal Heart	heart
6	chr12:104523800-104530600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:104525200-104530400	Weak transcription	Stomach Mucosa	stomach
8	chr12:104525600-104530400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:104526200-104530200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr12:104526600-104530400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:104526600-104530600	Weak transcription	Psoas Muscle	Psoas
12	chr12:104526600-104531000	Weak transcription	Lung	lung
13	chr12:104526800-104530800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:104526800-104530800	Weak transcription	Gastric	stomach
15	chr12:104526800-104531000	Weak transcription	Spleen	Spleen
16	chr12:104527200-104530200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:104527600-104530400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr12:104527800-104530400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:104527800-104530600	Weak transcription	Colonic Mucosa	Colon
20	chr12:104528000-104530200	Weak transcription	HMEC	breast
21	chr12:104528000-104530400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:104528000-104530600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr12:104528000-104530600	Weak transcription	Placenta	Placenta
24	chr12:104528400-104530400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr12:104528400-104530400	Enhancers	Brain Angular Gyrus	brain
26	chr12:104528600-104530400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr12:104528600-104530600	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr12:104528600-104530800	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr12:104528800-104530200	Enhancers	Fetal Lung	lung
30	chr12:104528800-104530400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:104528800-104530400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:104528800-104530400	Enhancers	Adipose Nuclei	Adipose
33	chr12:104528800-104530600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:104528800-104530600	Enhancers	Colon Smooth Muscle	Colon
35	chr12:104529000-104530200	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:104529000-104530400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr12:104529000-104530400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:104529000-104530400	Weak transcription	Left Ventricle	heart
39	chr12:104529000-104530400	Weak transcription	Right Ventricle	heart
40	chr12:104529000-104530400	Weak transcription	Thymus	Thymus
41	chr12:104529000-104530600	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr12:104529000-104530800	Weak transcription	Ovary	ovary
43	chr12:104529000-104531000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:104529200-104530200	Enhancers	Primary T cells from cord blood	blood
45	chr12:104529200-104530400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr12:104529200-104530400	Enhancers	Brain Anterior Caudate	brain
47	chr12:104529200-104530400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr12:104529200-104530400	Weak transcription	Fetal Thymus	thymus
49	chr12:104529200-104530400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:104529200-104530400	Enhancers	HepG2	liver

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