Variant report

Variant	rs12300083
Chromosome Location	chr12:106537189-106537190
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106529676..106534447-chr12:106536082..106538981,4	K562	blood:
2	chr12:106208126..106209890-chr12:106535652..106537483,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TCP11L2-4	chr12:106536087-106537368	NONHSAT030466

Variant related genes	Relation type
ENSG00000074590	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12317738	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2068146	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58749698	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7961208	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7965127	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7979970	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7980872	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040534	chr12:106528394-106619175	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106533800-106541800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:106534600-106537600	Weak transcription	Placenta	Placenta
3	chr12:106534600-106538200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:106534600-106538200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:106534600-106538600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:106534600-106538600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:106534600-106539000	Weak transcription	Fetal Intestine Small	intestine
8	chr12:106534600-106539200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:106534600-106539200	Weak transcription	Lung	lung
10	chr12:106534600-106539200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:106534600-106539600	Weak transcription	Aorta	Aorta
12	chr12:106534600-106541600	Weak transcription	HSMM	muscle
13	chr12:106534800-106538800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr12:106534800-106539200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:106534800-106539200	Enhancers	Liver	Liver
16	chr12:106534800-106540000	Enhancers	Brain Substantia Nigra	brain
17	chr12:106534800-106542000	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:106535000-106537200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr12:106535000-106538400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:106535000-106540000	Enhancers	HSMMtube	muscle
21	chr12:106535000-106540200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:106535200-106537400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:106535200-106539200	Weak transcription	Fetal Kidney	kidney
24	chr12:106535400-106537400	Enhancers	Fetal Heart	heart
25	chr12:106535400-106537600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr12:106535400-106537600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr12:106535400-106538000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr12:106535400-106538400	Weak transcription	NHEK	skin
29	chr12:106535400-106538400	Weak transcription	Osteobl	bone
30	chr12:106535400-106539200	Weak transcription	Fetal Intestine Large	intestine
31	chr12:106535400-106539200	Weak transcription	Gastric	stomach
32	chr12:106535600-106537200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:106535600-106537400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:106535600-106537400	Weak transcription	Brain Germinal Matrix	brain
35	chr12:106535600-106537600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:106535600-106537600	Weak transcription	Brain Hippocampus Middle	brain
37	chr12:106535600-106537600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:106535600-106537800	Weak transcription	HUVEC	blood vessel
39	chr12:106535600-106538400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:106535600-106538400	Weak transcription	NH-A	brain
41	chr12:106535600-106538600	Weak transcription	Fetal Muscle Leg	muscle
42	chr12:106535600-106538800	Weak transcription	NHDF-Ad	bronchial
43	chr12:106535600-106539000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:106535600-106539200	Weak transcription	Ovary	ovary
45	chr12:106535600-106539400	Weak transcription	Adipose Nuclei	Adipose
46	chr12:106535600-106539800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:106535600-106543200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:106535800-106539600	Enhancers	Fetal Brain Female	brain
49	chr12:106536200-106537600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:106536200-106537800	Weak transcription	Pancreas	Pancrea

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