Variant report

Variant	rs75965818
Chromosome Location	chr12:121409443-121409444
allele	C/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:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121197842..121198350-chr12:121409283..121409799,2	MCF-7	breast:
2	chr12:121077883..121078713-chr12:121409304..121410103,2	MCF-7	breast:
3	chr12:121020899..121021841-chr12:121409286..121409915,3	K562	blood:
4	chr12:121175837..121176393-chr12:121409274..121410074,2	MCF-7	breast:
5	chr12:121084889..121085528-chr12:121409309..121409932,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf43-1	chr12:121407641-121410095	ENSG00000241388.2
2	lnc-C12orf43-1	chr12:121408046-121410443	NONHSAT031257

No data

Variant related genes	Relation type
ENSG00000157782	Chromatin interaction
ENSG00000256008	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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv899561	chr12:121376416-121525591	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	esv3357747	chr12:121405281-121427388	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1037195	chr12:121408540-121470375	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121400600-121416000	Weak transcription	Small Intestine	intestine
2	chr12:121403800-121411000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:121404800-121409800	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr12:121405200-121415400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:121406600-121410800	Strong transcription	Rectal Mucosa Donor 31	rectum
6	chr12:121406600-121412400	Genic enhancers	Liver	Liver
7	chr12:121407200-121409800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:121407400-121410800	Weak transcription	Fetal Stomach	stomach
9	chr12:121408000-121414200	Genic enhancers	Fetal Intestine Small	intestine
10	chr12:121408200-121417800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:121408400-121411000	Weak transcription	Colonic Mucosa	Colon
12	chr12:121408400-121415400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:121408800-121410600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:121409000-121409600	Enhancers	Esophagus	oesophagus
15	chr12:121409000-121409600	Genic enhancers	Pancreas	Pancrea
16	chr12:121409000-121409800	Enhancers	Placenta	Placenta
17	chr12:121409000-121409800	Genic enhancers	Gastric	stomach
18	chr12:121409000-121410000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr12:121409000-121410000	Enhancers	Primary hematopoietic stem cells	blood
20	chr12:121409000-121410200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr12:121409000-121412400	Genic enhancers	Fetal Intestine Large	intestine
22	chr12:121409200-121409600	Enhancers	Fetal Kidney	kidney
23	chr12:121409200-121410000	Genic enhancers	Duodenum Mucosa	Duodenum
24	chr12:121409200-121410000	Enhancers	Dnd41	blood
25	chr12:121409200-121410600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:121409200-121412200	Enhancers	Stomach Mucosa	stomach
27	chr12:121409200-121412400	Genic enhancers	HepG2	liver
28	chr12:121409400-121409600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:121409400-121409600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:121409400-121409600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:121409400-121409600	Genic enhancers	A549	lung
32	chr12:121409400-121409800	Enhancers	Fetal Thymus	thymus
33	chr12:121409400-121410000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr12:121409400-121410000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:121409400-121410000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:121409400-121410000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr12:121409400-121410000	Enhancers	Primary B cells from peripheral blood	blood
38	chr12:121409400-121410000	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr12:121409400-121410000	Enhancers	GM12878-XiMat	blood
40	chr12:121409400-121410000	Enhancers	Hela-S3	cervix
41	chr12:121409400-121410200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr12:121409400-121410400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr12:121409400-121410800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:121409400-121411200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:121409400-121411200	Enhancers	K562	blood
46	chr12:121409400-121411400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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