Variant report

Variant	rs559064703
Chromosome Location	chr12:65018521-65018522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:65018511-65018560	ProgFib	skin:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:65017129..65019171-chr12:65067339..65069384,2	MCF-7	breast:
2	chr12:65018082..65020499-chr12:65056309..65058062,2	MCF-7	breast:
3	chr12:65010556..65012937-chr12:65017376..65021348,4	K562	blood:
4	chr12:65013129..65015693-chr12:65017473..65019068,2	K562	blood:
5	chr12:65018029..65021346-chr12:65072247..65076410,6	MCF-7	breast:
6	chr12:65008839..65011429-chr12:65017334..65019705,2	MCF-7	breast:
7	chr12:65018258..65020873-chr12:65068837..65071390,2	MCF-7	breast:
8	chr12:65011462..65014885-chr12:65017332..65020916,6	MCF-7	breast:
9	chr12:65001678..65008078-chr12:65013108..65023657,17	MCF-7	breast:
10	chr12:65017089..65019712-chr12:65042869..65045588,2	MCF-7	breast:
11	chr12:65016442..65019284-chr12:65019658..65023232,4	MCF-7	breast:
12	chr12:65018061..65020835-chr12:65174615..65176151,2	MCF-7	breast:
13	chr12:65001526..65007900-chr12:65015799..65021807,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225195	TF binding region
ENSG00000111490	Chromatin interaction
ENSG00000225195	Chromatin interaction
ENSG00000256670	Chromatin interaction
ENSG00000153179	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832443	chr12:64878856-65057265	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1048199	chr12:64951666-65021700	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	nsv541512	chr12:64951666-65021700	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases
7	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	esv3487503	chr12:65016285-65019683	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	diseases
11	esv3487501	chr12:65016735-65019533	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	esv3487499	chr12:65017087-65019353	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv2446886	chr12:65017169-65019012	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	esv2387704	chr12:65017306-65018625	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	esv3487502	chr12:65017334-65018585	Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	esv3497163	chr12:65017372-65018565	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	esv3487500	chr12:65017377-65018553	Flanking Active TSS Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	esv3487504	chr12:65017377-65018553	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	nsv438218	chr12:65017844-65037483	Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65006200-65018800	Weak transcription	Fetal Thymus	thymus
2	chr12:65006200-65019000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:65006200-65019000	Weak transcription	NHEK	skin
4	chr12:65006200-65019400	Weak transcription	Psoas Muscle	Psoas
5	chr12:65006800-65031800	Weak transcription	Dnd41	blood
6	chr12:65007000-65018800	Weak transcription	HMEC	breast
7	chr12:65007000-65019200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:65008600-65019000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:65009200-65019200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:65009800-65019200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:65009800-65019400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:65010000-65023200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:65010200-65019400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:65010400-65019000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:65010600-65018800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:65010600-65018800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:65010600-65018800	Weak transcription	Fetal Lung	lung
18	chr12:65010600-65019000	Weak transcription	Fetal Stomach	stomach
19	chr12:65010800-65018600	Weak transcription	Fetal Muscle Leg	muscle
20	chr12:65010800-65022200	Weak transcription	Spleen	Spleen
21	chr12:65011200-65018800	Enhancers	Primary B cells from peripheral blood	blood
22	chr12:65011600-65019000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:65011800-65019000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:65012400-65019200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:65012600-65019200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr12:65013000-65019200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:65013200-65019000	Weak transcription	Right Ventricle	heart
28	chr12:65013200-65019200	Weak transcription	Brain Anterior Caudate	brain
29	chr12:65013200-65019400	Weak transcription	Esophagus	oesophagus
30	chr12:65013200-65019400	Weak transcription	Ovary	ovary
31	chr12:65013400-65018800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr12:65013400-65018800	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr12:65013400-65018800	Weak transcription	Osteobl	bone
34	chr12:65013400-65019200	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr12:65013600-65018800	Enhancers	Primary B cells from cord blood	blood
36	chr12:65013600-65019000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:65013600-65019000	Weak transcription	Right Atrium	heart
38	chr12:65013600-65019400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr12:65013800-65018800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr12:65014000-65018800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:65014000-65018800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:65014000-65018800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:65014200-65018800	Enhancers	HUVEC	blood vessel
44	chr12:65014600-65019000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:65014800-65019000	Enhancers	Primary T cells fromperipheralblood	blood
46	chr12:65015200-65018800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:65015400-65018800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:65015400-65018800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr12:65015600-65018800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr12:65016000-65018600	Enhancers	Primary neutrophils fromperipheralblood	blood

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