Variant report

Variant	rs547480526
Chromosome Location	chr12:12348976-12348977
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12347779..12350511-chr12:12354038..12356966,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070018	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv529005	chr12:12254756-12412795	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv3427115	chr12:12262415-12432411	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1050715	chr12:12293072-12383820	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv3410677	chr12:12348840-12349012	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12304000-12353000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:12312000-12350600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:12312200-12355800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:12312200-12362000	Weak transcription	Hela-S3	cervix
5	chr12:12315400-12371600	Weak transcription	Lung	lung
6	chr12:12325400-12360000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:12334200-12350800	Weak transcription	Fetal Thymus	thymus
8	chr12:12334400-12349200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:12334400-12349600	Weak transcription	Dnd41	blood
10	chr12:12334400-12351200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:12334400-12352000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:12334400-12354000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:12334400-12367600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr12:12334600-12349200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:12334800-12352800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:12335200-12352000	Weak transcription	HSMM	muscle
17	chr12:12335200-12365800	Weak transcription	NHEK	skin
18	chr12:12335800-12354000	Weak transcription	HSMMtube	muscle
19	chr12:12336000-12352000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:12336000-12354200	Weak transcription	Primary T cells from cord blood	blood
21	chr12:12336000-12355600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:12336200-12360000	Weak transcription	Aorta	Aorta
23	chr12:12336200-12363200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr12:12336200-12369800	Weak transcription	Left Ventricle	heart
25	chr12:12336200-12381000	Weak transcription	Pancreas	Pancrea
26	chr12:12336400-12349600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:12336400-12357400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:12338200-12349000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:12338200-12355800	Weak transcription	Stomach Mucosa	stomach
30	chr12:12339000-12350800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:12339200-12357600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:12339800-12350600	Weak transcription	Fetal Intestine Small	intestine
33	chr12:12339800-12350600	Weak transcription	Fetal Stomach	stomach
34	chr12:12340200-12349600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr12:12340600-12349600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:12340600-12359400	Weak transcription	Ovary	ovary
37	chr12:12340800-12349600	Weak transcription	Liver	Liver
38	chr12:12342200-12360000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr12:12344000-12349000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:12344000-12349600	Weak transcription	HMEC	breast
41	chr12:12344000-12355200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:12344000-12367800	Weak transcription	NHLF	lung
43	chr12:12344200-12349800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:12344200-12351400	Weak transcription	Fetal Intestine Large	intestine
45	chr12:12344200-12352000	Weak transcription	Brain Anterior Caudate	brain
46	chr12:12344200-12353000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:12344200-12353200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr12:12344200-12353400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr12:12344200-12354000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:12344200-12355400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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