Variant report

Variant	rs190642143
Chromosome Location	chr1:178994049-178994050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:178994029-178996204	K562	blood:	n/a	n/a
2	CBX3	chr1:178993860-178995888	K562	blood:	n/a	n/a
3	KAP1	chr1:178993991-178994510	K562	blood:	n/a	n/a
4	JUND	chr1:178994030-178994060	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:178993511-178997453	K562	blood:	n/a	n/a
6	CBX3	chr1:178994049-178994888	K562	blood:	n/a	n/a
7	TRIM28	chr1:178994043-178995189	K562	blood:	n/a	n/a
8	POLR2A	chr1:178992621-178996965	PBDE	blood:	n/a	n/a
9	HCFC1	chr1:178993556-178996430	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr1:178993355-178996846	K562	blood:	n/a	n/a
11	NR2F2	chr1:178993968-178995065	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:178994037..178996559-chr6:26216842..26218993,2	MCF-7	breast:
2	chr1:178510389..178513760-chr1:178993228..178995789,4	MCF-7	breast:
3	chr1:178993182..178999783-chr1:179045102..179052535,14	MCF-7	breast:
4	chr1:178991699..178994582-chr1:179050061..179052704,4	MCF-7	breast:
5	chr1:178991905..178994151-chr3:61854506..61856753,2	MCF-7	breast:
6	chr1:178693031..178696022-chr1:178993845..178996341,3	MCF-7	breast:

No data

Variant related genes	Relation type
FAM20B	TF binding region
ENSG00000116191	Chromatin interaction
ENSG00000184909	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000213057	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000186283	Chromatin interaction
ENSG00000273062	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3420967	chr1:178993954-178996502	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:178986400-178994200	Weak transcription	Right Atrium	heart
2	chr1:178986400-178994200	Weak transcription	Spleen	Spleen
3	chr1:178986400-178994400	Weak transcription	Lung	lung
4	chr1:178986800-178994200	Weak transcription	Liver	Liver
5	chr1:178987200-178994200	Weak transcription	Fetal Lung	lung
6	chr1:178987400-178994200	Weak transcription	Left Ventricle	heart
7	chr1:178987400-178994400	Weak transcription	Fetal Stomach	stomach
8	chr1:178989200-178994600	Weak transcription	Esophagus	oesophagus
9	chr1:178989600-178994200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:178989600-178994600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:178989800-178994200	Weak transcription	Stomach Mucosa	stomach
12	chr1:178991200-178994200	Weak transcription	Aorta	Aorta
13	chr1:178991400-178994400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:178991400-178994600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:178991600-178994200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:178991600-178994200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:178991600-178994200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:178991600-178994200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:178991600-178994200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:178991600-178994200	Weak transcription	Adipose Nuclei	Adipose
21	chr1:178991600-178994200	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:178991600-178994200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:178991600-178994200	Weak transcription	Psoas Muscle	Psoas
24	chr1:178991600-178994200	Weak transcription	A549	lung
25	chr1:178991600-178994200	Weak transcription	HSMM	muscle
26	chr1:178991600-178994200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr1:178991600-178994400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr1:178991600-178994400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:178991600-178994400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:178991600-178994400	Weak transcription	Ovary	ovary
31	chr1:178991600-178994400	Weak transcription	HSMMtube	muscle
32	chr1:178991800-178994200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:178991800-178994200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr1:178991800-178994200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:178991800-178994200	Weak transcription	Brain Angular Gyrus	brain
36	chr1:178991800-178994200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:178991800-178994200	Weak transcription	Colon Smooth Muscle	Colon
38	chr1:178991800-178994200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:178991800-178994400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:178991800-178994400	Weak transcription	Brain Anterior Caudate	brain
41	chr1:178991800-178994400	Weak transcription	Fetal Brain Male	brain
42	chr1:178991800-178994400	Weak transcription	Fetal Heart	heart
43	chr1:178992000-178994200	Weak transcription	Fetal Brain Female	brain
44	chr1:178992000-178994200	Weak transcription	Osteobl	bone
45	chr1:178992000-178994400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:178992000-178994400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr1:178992000-178994400	Weak transcription	Brain Substantia Nigra	brain
48	chr1:178992200-178994200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr1:178992400-178994200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr1:178992800-178994200	Enhancers	Rectal Mucosa Donor 29	rectum

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