Variant report

Variant	rs372650098
Chromosome Location	chr12:106640727-106640728
allele	A/G
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:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:106634944..106646449-chr12:106667585..106679535,27	MCF-7	breast:
2	chr12:106640063..106644049-chr12:106694395..106698756,11	MCF-7	breast:
3	chr12:106640021..106643402-chr12:106749618..106753030,5	MCF-7	breast:
4	chr12:106639346..106644112-chr12:106694122..106698214,13	MCF-7	breast:
5	chr12:106639673..106643649-chr12:106748400..106753718,9	MCF-7	breast:
6	chr12:106640559..106643459-chr12:107485293..107487296,2	K562	blood:
7	chr12:106531582..106534564-chr12:106638638..106642825,4	MCF-7	breast:
8	chr12:106639693..106641308-chr12:106715072..106718036,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUAK1-2	chr12:106640493-106640734	ENSG00000258355.1

No data

Variant related genes	Relation type
ENSG00000257548	Chromatin interaction
ENSG00000074590	Chromatin interaction
ENSG00000166046	Chromatin interaction
ENSG00000013503	Chromatin interaction
ENSG00000008405	Chromatin interaction
ENSG00000238609	Chromatin interaction
ENSG00000136026	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830730	chr12:106621530-106642222	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1839947	chr12:106622186-106642064	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1797996	chr12:106622186-106642222	Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv560055	chr12:106634722-106641710	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv560056	chr12:106634722-106642064	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv560057	chr12:106634722-106642170	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv560058	chr12:106634722-106642222	Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv560059	chr12:106637876-106641962	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv1792778	chr12:106637876-106642222	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	esv1842648	chr12:106637876-106642222	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv560060	chr12:106637876-106642390	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	esv1799917	chr12:106637876-106649988	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	esv1834434	chr12:106637876-106649988	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	esv3403093	chr12:106639622-106643920	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	esv3377942	chr12:106640247-106642795	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	esv3491368	chr12:106640422-106643020	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	esv3491369	chr12:106640422-106643020	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106625200-106640800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:106637600-106640800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr12:106638600-106640800	Flanking Active TSS	HUVEC	blood vessel
4	chr12:106638800-106640800	Flanking Active TSS	Hela-S3	cervix
5	chr12:106638800-106641000	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr12:106638800-106641200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr12:106639000-106641200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr12:106639200-106642400	Active TSS	HSMM	muscle
9	chr12:106639200-106642400	Active TSS	NHLF	lung
10	chr12:106639200-106642800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr12:106639400-106642600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:106639600-106640800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:106639600-106640800	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr12:106639600-106640800	Flanking Active TSS	Rectal Smooth Muscle	rectum
15	chr12:106639600-106640800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr12:106639600-106640800	Flanking Active TSS	NHEK	skin
17	chr12:106639600-106641000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:106639600-106641200	Flanking Active TSS	Colonic Mucosa	Colon
19	chr12:106639600-106642600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:106639800-106640800	Flanking Active TSS	Fetal Lung	lung
21	chr12:106639800-106641000	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr12:106639800-106641000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr12:106639800-106642600	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr12:106639800-106643000	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr12:106640000-106640800	Flanking Active TSS	Fetal Stomach	stomach
26	chr12:106640000-106641000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:106640000-106641000	Flanking Active TSS	Liver	Liver
28	chr12:106640000-106641000	Flanking Active TSS	Fetal Muscle Trunk	muscle
29	chr12:106640000-106641200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr12:106640000-106641400	Active TSS	Fetal Kidney	kidney
31	chr12:106640000-106642200	Active TSS	Lung	lung
32	chr12:106640000-106642400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:106640000-106642400	Active TSS	Muscle Satellite Cultured Cells	--
34	chr12:106640000-106642400	Active TSS	Esophagus	oesophagus
35	chr12:106640000-106642600	Active TSS	Left Ventricle	heart
36	chr12:106640000-106642600	Active TSS	NHDF-Ad	bronchial
37	chr12:106640000-106642800	Active TSS	Brain Anterior Caudate	brain
38	chr12:106640000-106643000	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr12:106640000-106643000	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr12:106640200-106640800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
41	chr12:106640200-106640800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:106640200-106640800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr12:106640200-106641200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr12:106640200-106642200	Active TSS	GM12878-XiMat	blood
45	chr12:106640200-106642400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:106640200-106642400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:106640200-106642400	Active TSS	A549	lung
48	chr12:106640200-106642400	Active TSS	Osteobl	bone
49	chr12:106640200-106642600	Active TSS	Ovary	ovary
50	chr12:106640200-106642600	Active TSS	Placenta Amnion	Placenta Amnion

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