Variant report

Variant	rs61943201
Chromosome Location	chr12:49181883-49181884
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 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	ZBTB7A	chr12:49181877-49184070	ECC-1	luminal epithelium:	n/a	chr12:49183052-49183061
3	MXI1	chr12:49181694-49183205	IMR90	lung:	n/a	n/a
4	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
ENSG00000167535	Chromatin interaction
ENSG00000129315	Chromatin interaction
ENSG00000139620	Chromatin interaction
ENSG00000264201	Chromatin interaction
ENSG00000174233	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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49180400-49182000	Enhancers	Spleen	Spleen
2	chr12:49180400-49182200	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr12:49180400-49182400	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr12:49180600-49182200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:49180600-49182200	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr12:49180800-49182000	Flanking Active TSS	Osteobl	bone
7	chr12:49180800-49182200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:49180800-49182200	Flanking Active TSS	Brain Cingulate Gyrus	brain
9	chr12:49180800-49182200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:49180800-49182200	Flanking Active TSS	Hela-S3	cervix
11	chr12:49180800-49182400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr12:49180800-49182600	Flanking Active TSS	Fetal Muscle Leg	muscle
13	chr12:49181000-49182000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:49181000-49182000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr12:49181000-49182000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:49181000-49182000	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr12:49181000-49182000	Flanking Active TSS	Colonic Mucosa	Colon
18	chr12:49181000-49182000	Flanking Active TSS	Pancreas	Pancrea
19	chr12:49181000-49182000	Flanking Active TSS	HepG2	liver
20	chr12:49181000-49182200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:49181000-49182200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr12:49181000-49182200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr12:49181000-49182200	Flanking Active TSS	Fetal Brain Female	brain
24	chr12:49181000-49182200	Flanking Active TSS	Fetal Stomach	stomach
25	chr12:49181000-49182200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr12:49181000-49182400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr12:49181200-49182000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:49181200-49182000	Flanking Active TSS	Fetal Lung	lung
29	chr12:49181200-49182000	Enhancers	Placenta Amnion	Placenta Amnion
30	chr12:49181200-49182200	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr12:49181200-49182200	Flanking Active TSS	HUVEC	blood vessel
32	chr12:49181200-49182400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:49181200-49182400	Flanking Active TSS	Psoas Muscle	Psoas
34	chr12:49181200-49182600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:49181200-49183200	Active TSS	HSMMtube	muscle
36	chr12:49181200-49183800	Active TSS	Aorta	Aorta
37	chr12:49181400-49182000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:49181400-49182000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr12:49181400-49182000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
40	chr12:49181400-49182000	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr12:49181400-49182200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:49181400-49182200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
43	chr12:49181400-49182200	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr12:49181400-49182200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr12:49181400-49182400	Flanking Active TSS	Liver	Liver
46	chr12:49181400-49182400	Flanking Active TSS	NHEK	skin
47	chr12:49181400-49182600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:49181400-49183600	Active TSS	HSMM	muscle
49	chr12:49181600-49182000	Enhancers	Fetal Brain Male	brain
50	chr12:49181600-49182000	Flanking Active TSS	Lung	lung

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