Variant report

Variant	rs576251305
Chromosome Location	chr1:161905505-161905506
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	chr1:161903105..161906529-chr1:161907782..161911202,3	K562	blood:
2	chr1:161903853..161905823-chr1:161919707..161922209,2	K562	blood:

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	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv947136	chr1:161904744-161912405	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161824200-161928400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:161861600-161906400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:161861600-161936000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:161881600-161912000	Weak transcription	Aorta	Aorta
5	chr1:161883200-161916000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:161883400-161928200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:161884200-161910800	Weak transcription	HepG2	liver
8	chr1:161884600-161927600	Weak transcription	NHEK	skin
9	chr1:161884800-161922600	Weak transcription	Brain Anterior Caudate	brain
10	chr1:161885000-161910600	Weak transcription	Gastric	stomach
11	chr1:161885000-161914400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:161885000-161928000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:161885200-161911800	Weak transcription	Left Ventricle	heart
14	chr1:161885400-161906200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:161885800-161919200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:161886000-161905800	Weak transcription	Adipose Nuclei	Adipose
17	chr1:161886000-161910600	Weak transcription	K562	blood
18	chr1:161886000-161911600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:161886000-161911800	Weak transcription	Placenta	Placenta
20	chr1:161886000-161912000	Weak transcription	Lung	lung
21	chr1:161886000-161912000	Weak transcription	Pancreas	Pancrea
22	chr1:161886200-161912000	Weak transcription	Fetal Intestine Large	intestine
23	chr1:161887000-161918600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:161887000-161928200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr1:161887200-161906600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:161887200-161914200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:161887200-161915600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:161887200-161929600	Weak transcription	Hela-S3	cervix
29	chr1:161891000-161912800	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:161891000-161915600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:161891400-161906400	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:161891800-161915800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:161896200-161916400	Weak transcription	Fetal Stomach	stomach
34	chr1:161896400-161905600	Weak transcription	Liver	Liver
35	chr1:161896600-161911800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:161896800-161909200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:161897800-161928400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:161897800-161940000	Weak transcription	Brain Germinal Matrix	brain
39	chr1:161899400-161914400	Weak transcription	Psoas Muscle	Psoas
40	chr1:161899800-161918400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:161900000-161910600	Weak transcription	Ovary	ovary
42	chr1:161900000-161914200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:161900000-161916000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:161900200-161918600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr1:161900600-161911600	Weak transcription	NH-A	brain
46	chr1:161900600-161914000	Weak transcription	HUVEC	blood vessel
47	chr1:161900600-161915600	Weak transcription	HSMM	muscle
48	chr1:161900600-161915600	Weak transcription	NHLF	lung
49	chr1:161900800-161909400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:161901400-161935400	Weak transcription	Fetal Lung	lung

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