Variant report

Variant	rs12970386
Chromosome Location	chr18:9722049-9722050
allele	A/C
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9717190..9719033-chr18:9719362..9722418,4	K562	blood:
2	chr18:9613542..9616601-chr18:9721891..9724420,3	MCF-7	breast:
3	chr18:9702871..9705686-chr18:9721298..9722865,2	MCF-7	breast:
4	chr18:9719423..9721324-chr18:9721456..9724402,2	K562	blood:
5	chr18:9706129..9716760-chr18:9717289..9726025,20	K562	blood:
6	chr18:9720136..9722151-chr18:9751810..9753463,2	K562	blood:
7	chr18:9708382..9711324-chr18:9721162..9722931,2	MCF-7	breast:
8	chr18:9719464..9723291-chr18:9723398..9728307,5	K562	blood:
9	chr18:9716222..9719408-chr18:9720122..9723358,4	K562	blood:
10	chr18:9720309..9723039-chr18:9725198..9728251,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000168461	Chromatin interaction
ENSG00000154845	Chromatin interaction
ENSG00000263627	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11661633	0.88[ASN][1000 genomes]
rs11877030	0.81[ASN][1000 genomes]
rs1893128	0.81[ASN][1000 genomes]
rs1893129	0.81[ASN][1000 genomes]
rs2864781	0.81[ASN][1000 genomes]
rs2864782	0.81[ASN][1000 genomes]
rs4798835	0.89[ASN][1000 genomes]
rs7232534	0.81[ASN][1000 genomes]
rs958079	0.87[ASN][1000 genomes]
rs9963622	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1064807	chr18:9695356-9770358	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9710200-9733600	Weak transcription	Left Ventricle	heart
2	chr18:9710400-9732000	Weak transcription	Fetal Stomach	stomach
3	chr18:9712600-9723600	Weak transcription	Fetal Muscle Leg	muscle
4	chr18:9712600-9723600	Weak transcription	Placenta	Placenta
5	chr18:9712800-9732000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr18:9713200-9722200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr18:9713600-9732200	Weak transcription	Adipose Nuclei	Adipose
8	chr18:9715000-9723600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:9715200-9723600	Weak transcription	K562	blood
10	chr18:9716800-9732400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr18:9717200-9732000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr18:9718200-9732000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr18:9718200-9732600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr18:9719000-9732000	Weak transcription	HSMMtube	muscle
15	chr18:9719200-9724800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr18:9719800-9722400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr18:9719800-9724400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr18:9719800-9725200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr18:9719800-9733600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr18:9719800-9734400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr18:9720000-9722200	Weak transcription	Gastric	stomach
22	chr18:9720000-9722400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr18:9720000-9723000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr18:9720000-9723800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:9720000-9724000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr18:9720000-9726000	Weak transcription	HSMM	muscle
27	chr18:9720000-9730000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr18:9720000-9730600	Weak transcription	NHLF	lung
29	chr18:9720000-9737400	Weak transcription	Brain Anterior Caudate	brain
30	chr18:9720000-9742000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr18:9720400-9722600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr18:9720400-9724200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr18:9720400-9724600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr18:9720400-9726200	Weak transcription	Colon Smooth Muscle	Colon
35	chr18:9720400-9730600	Weak transcription	NH-A	brain
36	chr18:9720600-9722200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr18:9720600-9722400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr18:9720600-9722600	Genic enhancers	Hela-S3	cervix
39	chr18:9720600-9722800	Enhancers	NHEK	skin
40	chr18:9720600-9724400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr18:9720600-9724600	Weak transcription	NHDF-Ad	bronchial
42	chr18:9720600-9724800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr18:9720600-9724800	Weak transcription	Brain Hippocampus Middle	brain
44	chr18:9720600-9724800	Weak transcription	Lung	lung
45	chr18:9720600-9724800	Weak transcription	Ovary	ovary
46	chr18:9720600-9725800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr18:9720600-9730600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr18:9720600-9730600	Weak transcription	A549	lung
49	chr18:9720600-9732000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr18:9720600-9733600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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