Variant report

Variant	rs142600454
Chromosome Location	chr1:114162219-114162220
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	chr1:114157193..114159777-chr1:114161576..114164133,2	K562	blood:
2	chr1:114156923..114159777-chr1:114160586..114163076,2	K562	blood:

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	nsv1012324	chr1:114135133-114206843	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv872161	chr1:114162194-114280135	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114100600-114173400	Weak transcription	Gastric	stomach
2	chr1:114119200-114172400	Weak transcription	Pancreas	Pancrea
3	chr1:114119200-114173000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:114124400-114172400	Weak transcription	Aorta	Aorta
5	chr1:114134600-114166400	Weak transcription	Hela-S3	cervix
6	chr1:114140600-114172800	Weak transcription	Colonic Mucosa	Colon
7	chr1:114140800-114162600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:114141000-114162600	Weak transcription	Fetal Intestine Large	intestine
9	chr1:114141400-114162400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:114146200-114163200	Weak transcription	Fetal Lung	lung
11	chr1:114147200-114163400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:114151400-114172600	Weak transcription	Ovary	ovary
13	chr1:114151800-114166400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:114153000-114163600	Weak transcription	Fetal Kidney	kidney
15	chr1:114153600-114168400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:114154000-114172400	Weak transcription	Fetal Stomach	stomach
17	chr1:114156200-114170000	Weak transcription	Small Intestine	intestine
18	chr1:114157400-114166400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:114157600-114163800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:114158600-114166400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:114158800-114163200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:114158800-114168600	Weak transcription	HUVEC	blood vessel
23	chr1:114159000-114168600	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:114159000-114172200	Weak transcription	NH-A	brain
25	chr1:114159000-114173200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:114159000-114195000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:114159200-114165200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:114159200-114194800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:114160200-114162800	Weak transcription	Adipose Nuclei	Adipose
30	chr1:114160400-114169800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:114160600-114165400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:114160600-114165600	Weak transcription	Osteobl	bone
33	chr1:114160600-114168600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:114160600-114169000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:114160800-114168200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr1:114161000-114166400	Weak transcription	Fetal Brain Male	brain
37	chr1:114161200-114168000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:114161400-114168600	Weak transcription	Fetal Intestine Small	intestine
39	chr1:114161600-114163200	Weak transcription	Primary T cells from cord blood	blood
40	chr1:114161600-114163600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:114161600-114164600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:114161600-114172400	Weak transcription	Placenta	Placenta
43	chr1:114161600-114184600	Weak transcription	Colon Smooth Muscle	Colon
44	chr1:114161600-114184600	Weak transcription	HepG2	liver
45	chr1:114161800-114164200	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr1:114161800-114167000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr1:114161800-114168600	Weak transcription	Fetal Muscle Leg	muscle
48	chr1:114161800-114199800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:114162000-114167000	Strong transcription	Liver	Liver
50	chr1:114162200-114162600	Strong transcription	NHDF-Ad	bronchial

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