Variant report

Variant	rs534143504
Chromosome Location	chr1:62977553-62977554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1817371	chr1:62901935-63129697	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv1829390	chr1:62931632-62997573	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS 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 target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62920000-62980200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:62922600-62982000	Weak transcription	A549	lung
3	chr1:62923200-62979200	Weak transcription	Fetal Thymus	thymus
4	chr1:62934400-62981200	Weak transcription	Stomach Mucosa	stomach
5	chr1:62939200-62978200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:62939600-62999800	Weak transcription	Gastric	stomach
7	chr1:62939600-63040600	Weak transcription	Aorta	Aorta
8	chr1:62939800-63044400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:62939800-63060200	Weak transcription	Small Intestine	intestine
10	chr1:62941000-63001000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:62941600-62978600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:62941600-62981400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:62941600-62998200	Weak transcription	Fetal Heart	heart
14	chr1:62941600-63011800	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:62941800-62978400	Weak transcription	NHEK	skin
16	chr1:62941800-62982000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:62941800-62984600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:62941800-63030200	Weak transcription	Brain Angular Gyrus	brain
19	chr1:62943600-62979400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:62947200-62978600	Weak transcription	Ovary	ovary
21	chr1:62951200-62980400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:62954000-63003400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:62954000-63053400	Weak transcription	Fetal Brain Male	brain
24	chr1:62957200-62977800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:62957800-62998200	Weak transcription	Primary T cells from cord blood	blood
26	chr1:62957800-63050200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:62958200-63010800	Weak transcription	Brain Substantia Nigra	brain
28	chr1:62958200-63061000	Weak transcription	Lung	lung
29	chr1:62958400-62984600	Weak transcription	Brain Germinal Matrix	brain
30	chr1:62958400-62997600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:62958400-62998200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:62958600-62978200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:62960000-62980200	Weak transcription	Colonic Mucosa	Colon
34	chr1:62960000-62998200	Weak transcription	HMEC	breast
35	chr1:62960200-62977800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:62960200-62984800	Weak transcription	Primary B cells from cord blood	blood
37	chr1:62960200-62999800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:62960400-62981400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:62960400-62984800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:62960400-62985000	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:62960400-62985000	Weak transcription	HSMMtube	muscle
42	chr1:62960400-63004400	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr1:62960400-63011800	Weak transcription	Pancreas	Pancrea
44	chr1:62961400-62980400	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr1:62961600-62993600	Weak transcription	HUVEC	blood vessel
46	chr1:62961800-62978000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:62965000-62979800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:62966800-62978200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:62967600-62979600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:62968400-62984600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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