Variant report

Variant	rs570680303
Chromosome Location	chr12:49182023-49182024
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMARCB1	chr12:49181576-49183529	Hela-S3	cervix:	n/a	n/a
2	CTBP2	chr12:49181988-49183226	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZBTB7A	chr12:49181877-49184070	ECC-1	luminal epithelium:	n/a	chr12:49183052-49183061
4	MXI1	chr12:49181694-49183205	IMR90	lung:	n/a	n/a
5	MXI1	chr12:49180368-49183259	SK-N-SH	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49108937..49110842-chr12:49180917..49183089,2	MCF-7	breast:
2	chr12:49074389..49076545-chr12:49180456..49183753,3	MCF-7	breast:
3	chr12:49074245..49078609-chr12:49180778..49182867,4	MCF-7	breast:
4	chr12:49180246..49182305-chr12:49186657..49190531,5	MCF-7	breast:
5	chr12:49175402..49178124-chr12:49180679..49183666,2	K562	blood:
6	chr12:49178102..49185044-chr12:49204782..49211867,14	MCF-7	breast:
7	chr12:49180478..49186692-chr12:49206898..49214052,14	MCF-7	breast:
8	chr12:49165064..49172292-chr12:49177951..49185171,13	MCF-7	breast:
9	chr12:49110036..49111681-chr12:49181615..49184278,2	MCF-7	breast:

No data

Variant related genes	Relation type
ADCY6	TF binding region
ENSG00000257660	TF binding region
ENSG00000174233	Chromatin interaction
ENSG00000264201	Chromatin interaction
ENSG00000167535	Chromatin interaction
ENSG00000129315	Chromatin interaction
ENSG00000139620	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv826363	chr12:49177227-49250989	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv3409586	chr12:49181735-49184833	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49180400-49182200	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr12:49180400-49182400	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr12:49180600-49182200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:49180600-49182200	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr12:49180800-49182200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:49180800-49182200	Flanking Active TSS	Brain Cingulate Gyrus	brain
7	chr12:49180800-49182200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:49180800-49182200	Flanking Active TSS	Hela-S3	cervix
9	chr12:49180800-49182400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr12:49180800-49182600	Flanking Active TSS	Fetal Muscle Leg	muscle
11	chr12:49181000-49182200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:49181000-49182200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr12:49181000-49182200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr12:49181000-49182200	Flanking Active TSS	Fetal Brain Female	brain
15	chr12:49181000-49182200	Flanking Active TSS	Fetal Stomach	stomach
16	chr12:49181000-49182200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr12:49181000-49182400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr12:49181200-49182200	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr12:49181200-49182200	Flanking Active TSS	HUVEC	blood vessel
20	chr12:49181200-49182400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:49181200-49182400	Flanking Active TSS	Psoas Muscle	Psoas
22	chr12:49181200-49182600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:49181200-49183200	Active TSS	HSMMtube	muscle
24	chr12:49181200-49183800	Active TSS	Aorta	Aorta
25	chr12:49181400-49182200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:49181400-49182200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
27	chr12:49181400-49182200	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr12:49181400-49182200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr12:49181400-49182400	Flanking Active TSS	Liver	Liver
30	chr12:49181400-49182400	Flanking Active TSS	NHEK	skin
31	chr12:49181400-49182600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:49181400-49183600	Active TSS	HSMM	muscle
33	chr12:49181600-49182200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
34	chr12:49181600-49182200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
35	chr12:49181600-49182200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:49181600-49182200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:49181600-49182400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:49181600-49182600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr12:49181600-49182600	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr12:49181600-49182600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr12:49181600-49182600	Flanking Active TSS	Placenta	Placenta
42	chr12:49181600-49183600	Active TSS	Fetal Heart	heart
43	chr12:49181600-49183600	Active TSS	Fetal Intestine Small	intestine
44	chr12:49181600-49183600	Active TSS	Rectal Smooth Muscle	rectum
45	chr12:49181600-49183800	Active TSS	Fetal Kidney	kidney
46	chr12:49181600-49184200	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr12:49181800-49182200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
48	chr12:49181800-49182200	Bivalent/Poised TSS	Small Intestine	intestine
49	chr12:49181800-49182400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
50	chr12:49181800-49183200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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