Variant report

Variant	rs587623477
Chromosome Location	chr1:120254774-120254775
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120229496..120231621-chr1:120254696..120256885,2	K562	blood:
2	chr1:120188760..120191651-chr1:120254416..120257641,3	K562	blood:
3	chr1:120254449..120255374-chr3:25705936..25706569,2	Hela-S3	cervix:
4	chr1:120253275..120257099-chr1:120276679..120281090,4	K562	blood:
5	chr1:120186762..120190857-chr1:120254727..120257522,5	MCF-7	breast:
6	chr1:120254553..120256088-chr2:64878581..64881512,2	K562	blood:
7	chr1:120201333..120204049-chr1:120254351..120256217,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264219	Chromatin interaction
ENSG00000077097	Chromatin interaction
ENSG00000179833	Chromatin interaction
ENSG00000092621	Chromatin interaction
ENSG00000143067	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv3417273	chr1:120254479-120256427	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120254200-120254800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
2	chr1:120254200-120254800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:120254200-120254800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:120254200-120254800	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr1:120254200-120254800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr1:120254200-120254800	Active TSS	Stomach Smooth Muscle	stomach
7	chr1:120254200-120255000	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
8	chr1:120254200-120255000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
9	chr1:120254200-120255000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:120254200-120255000	Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr1:120254200-120255000	Flanking Active TSS	Liver	Liver
12	chr1:120254200-120255000	Active TSS	Fetal Heart	heart
13	chr1:120254200-120255000	Flanking Active TSS	Fetal Muscle Leg	muscle
14	chr1:120254200-120255000	Flanking Active TSS	HUVEC	blood vessel
15	chr1:120254200-120255000	Flanking Active TSS	K562	blood
16	chr1:120254200-120255200	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr1:120254200-120255200	Bivalent/Poised TSS	HepG2	liver
18	chr1:120254200-120255200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr1:120254200-120255400	Active TSS	Primary T cells from cord blood	blood
20	chr1:120254200-120255400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:120254200-120255400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:120254200-120255400	Active TSS	Brain Cingulate Gyrus	brain
23	chr1:120254200-120255400	Active TSS	A549	lung
24	chr1:120254200-120255600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:120254200-120255600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:120254200-120255600	Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr1:120254200-120255600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:120254200-120255600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr1:120254200-120255600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:120254200-120255600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:120254200-120255600	Active TSS	Brain Germinal Matrix	brain
32	chr1:120254200-120255600	Active TSS	Fetal Brain Female	brain
33	chr1:120254200-120255600	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr1:120254200-120255600	Active TSS	Fetal Lung	lung
35	chr1:120254200-120255600	Active TSS	Fetal Stomach	stomach
36	chr1:120254200-120255600	Active TSS	Thymus	Thymus
37	chr1:120254200-120255600	Active TSS	HSMM	muscle
38	chr1:120254200-120255600	Active TSS	NH-A	brain
39	chr1:120254200-120255600	Active TSS	Osteobl	bone
40	chr1:120254200-120255800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:120254200-120255800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:120254200-120255800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:120254200-120255800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:120254200-120255800	Active TSS	Aorta	Aorta
45	chr1:120254200-120255800	Active TSS	Brain Hippocampus Middle	brain
46	chr1:120254200-120255800	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr1:120254200-120255800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:120254200-120255800	Active TSS	Colon Smooth Muscle	Colon
49	chr1:120254200-120255800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
50	chr1:120254200-120255800	Active TSS	Fetal Intestine Large	intestine

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