Variant report

Variant	rs559675523
Chromosome Location	chr1:76230257-76230258
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:76225609..76234140-chr1:76249320..76256385,15	K562	blood:
2	chr1:76225579..76234839-chr1:76250485..76256385,12	K562	blood:
3	chr1:76189616..76192216-chr1:76229910..76232221,2	K562	blood:
4	chr1:76230100..76233038-chr1:76235257..76238207,3	K562	blood:
5	chr1:76189779..76193435-chr1:76229737..76232893,5	K562	blood:
6	chr1:76230023..76233011-chr1:76235018..76236757,2	K562	blood:
7	chr1:76222580..76224915-chr1:76228068..76230372,2	K562	blood:

Variant related genes	Relation type
ENSG00000178193	Chromatin interaction
ENSG00000137955	Chromatin interaction
ENSG00000206620	Chromatin interaction
ENSG00000201487	Chromatin interaction
ENSG00000117054	Chromatin interaction
ENSG00000207241	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	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	esv2763563	chr1:76229839-76245374	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76203400-76230800	Weak transcription	NHDF-Ad	bronchial
2	chr1:76208800-76231400	Weak transcription	A549	lung
3	chr1:76208800-76231400	Weak transcription	NHEK	skin
4	chr1:76208800-76231600	Weak transcription	Hela-S3	cervix
5	chr1:76209000-76230800	Weak transcription	HUVEC	blood vessel
6	chr1:76209000-76230800	Weak transcription	NHLF	lung
7	chr1:76210200-76231800	Weak transcription	HSMMtube	muscle
8	chr1:76211600-76230800	Weak transcription	HMEC	breast
9	chr1:76217600-76231400	Weak transcription	Osteobl	bone
10	chr1:76219600-76230600	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:76221200-76231400	Weak transcription	Gastric	stomach
12	chr1:76221200-76238400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:76221400-76230600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:76221400-76230600	Weak transcription	Colonic Mucosa	Colon
15	chr1:76221400-76231200	Weak transcription	NH-A	brain
16	chr1:76221400-76231400	Weak transcription	Pancreas	Pancrea
17	chr1:76221400-76233200	Weak transcription	Brain Anterior Caudate	brain
18	chr1:76221600-76230800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:76221600-76230800	Weak transcription	Lung	lung
20	chr1:76221600-76231000	Weak transcription	Aorta	Aorta
21	chr1:76221600-76231000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:76221600-76231000	Weak transcription	Right Ventricle	heart
23	chr1:76221600-76231200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:76221600-76231400	Weak transcription	Fetal Heart	heart
25	chr1:76221600-76231400	Weak transcription	Ovary	ovary
26	chr1:76221600-76231400	Weak transcription	HSMM	muscle
27	chr1:76221600-76231600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:76221600-76231600	Weak transcription	Esophagus	oesophagus
29	chr1:76221600-76231800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:76221600-76232200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:76221600-76234200	Weak transcription	Thymus	Thymus
32	chr1:76221800-76231400	Weak transcription	Primary T cells from cord blood	blood
33	chr1:76221800-76232600	Weak transcription	Fetal Brain Male	brain
34	chr1:76222000-76230800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:76222000-76231000	Weak transcription	Fetal Lung	lung
36	chr1:76222000-76231200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:76222000-76231600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:76222000-76231600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:76222000-76231600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:76222000-76233400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:76222000-76233800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:76222000-76236600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:76222000-76237000	Weak transcription	Brain Angular Gyrus	brain
44	chr1:76222200-76231600	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:76223800-76236600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr1:76224200-76231600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:76224400-76231400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:76224400-76232800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:76224600-76231000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr1:76224600-76231600	Weak transcription	Fetal Brain Female	brain

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