Variant report

Variant	rs2063629
Chromosome Location	chr12:124006842-124006843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124004156..124006124-chr12:124006338..124008764,2	MCF-7	breast:
2	chr12:123960921..123963126-chr12:124005515..124007518,2	K562	blood:
3	chr12:124006455..124008310-chr12:124016022..124017705,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs28535055	0.84[ASN][1000 genomes]
rs28605072	0.86[ASN][1000 genomes]
rs28673982	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61953538	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7307227	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9723048	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	esv1822004	chr12:123919287-124013451	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1037260	chr12:123956749-124023069	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
8	esv3333074	chr12:124005349-124007347	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2063629	RP11-486O12.2	cis	Thyroid	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123944600-124012200	Strong transcription	Fetal Stomach	stomach
2	chr12:123950800-124007600	Weak transcription	Colonic Mucosa	Colon
3	chr12:123970000-124016400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:123992600-124012800	Weak transcription	Thymus	Thymus
5	chr12:123993600-124011200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:123994400-124016200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:123994600-124016200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:123995200-124016400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:123995400-124009400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:123997800-124007600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:123999200-124015800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:123999400-124016400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:124000200-124012400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:124000600-124009200	Strong transcription	Liver	Liver
15	chr12:124000600-124009200	Strong transcription	Fetal Brain Female	brain
16	chr12:124000600-124009200	Strong transcription	Ovary	ovary
17	chr12:124000600-124009200	Strong transcription	Spleen	Spleen
18	chr12:124000600-124009400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:124000600-124009400	Strong transcription	Adipose Nuclei	Adipose
20	chr12:124000600-124009600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:124000600-124009800	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:124000600-124011400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:124000600-124015000	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr12:124000800-124009000	Strong transcription	Brain Germinal Matrix	brain
25	chr12:124001000-124007000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr12:124001000-124009000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:124001000-124016400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:124001200-124009000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:124001200-124017400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:124001400-124017400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:124001600-124008200	Strong transcription	NHLF	lung
32	chr12:124002000-124016800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr12:124002200-124008000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:124002400-124007800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:124003000-124015400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr12:124003800-124007800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:124004000-124008000	Strong transcription	Dnd41	blood
38	chr12:124004000-124009200	Strong transcription	Fetal Intestine Large	intestine
39	chr12:124004000-124009200	Strong transcription	Lung	lung
40	chr12:124004200-124009200	Strong transcription	Fetal Lung	lung
41	chr12:124004400-124007800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
42	chr12:124004400-124008800	Strong transcription	Fetal Intestine Small	intestine
43	chr12:124004600-124007000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:124004600-124007800	Strong transcription	HUVEC	blood vessel
45	chr12:124004600-124009000	Strong transcription	Brain Substantia Nigra	brain
46	chr12:124004600-124009200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:124004600-124009200	Strong transcription	Brain Cingulate Gyrus	brain
48	chr12:124004600-124009200	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr12:124004600-124011200	Weak transcription	Psoas Muscle	Psoas
50	chr12:124004600-124016800	Weak transcription	Stomach Mucosa	stomach

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