Variant report

Variant	rs546663300
Chromosome Location	chr1:151522491-151522492
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151511607..151517154-chr1:151519761..151524773,6	K562	blood:
2	1:151516085-151535167..1:151592347-151603110	GM12878	blood:
3	chr1:151481542..151488437-chr1:151515636..151525415,14	MCF-7	breast:
4	chr1:151521243..151523958-chr1:151534794..151537419,2	MCF-7	breast:
5	chr1:151430069..151432862-chr1:151521024..151523772,3	MCF-7	breast:
6	chr1:151483462..151487382-chr1:151518217..151524477,9	MCF-7	breast:
7	1:151402394-151411623..1:151516085-151535167	GM12878	blood:
8	chr1:151511080..151515753-chr1:151520278..151524135,5	K562	blood:
9	1:151171193-151178589..1:151516085-151535167	GM12878	blood:
10	chr1:151429392..151432679-chr1:151519688..151523512,7	MCF-7	breast:
11	chr1:151518630..151520620-chr1:151521717..151523479,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143367	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000238711	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000206635	Chromatin interaction

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	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv997511	chr1:151491765-151595902	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv946387	chr1:151521876-151530261	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151514400-151540800	Weak transcription	Brain Angular Gyrus	brain
2	chr1:151514400-151556800	Weak transcription	Fetal Brain Male	brain
3	chr1:151515400-151523400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:151515600-151534400	Weak transcription	Brain Germinal Matrix	brain
5	chr1:151517600-151523400	Enhancers	Placenta	Placenta
6	chr1:151518400-151522800	Enhancers	Fetal Intestine Large	intestine
7	chr1:151519400-151522600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:151519400-151522800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:151519600-151524400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:151520200-151524000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:151520200-151524600	Weak transcription	Right Atrium	heart
12	chr1:151520200-151534200	Weak transcription	Fetal Stomach	stomach
13	chr1:151520200-151536600	Weak transcription	Ovary	ovary
14	chr1:151520400-151522600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:151520400-151522600	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr1:151520400-151534200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:151520400-151535800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:151520400-151536600	Weak transcription	Adipose Nuclei	Adipose
19	chr1:151520400-151536800	Weak transcription	Aorta	Aorta
20	chr1:151520600-151522600	Enhancers	HMEC	breast
21	chr1:151520600-151522800	Enhancers	HepG2	liver
22	chr1:151520600-151536000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:151520600-151536800	Weak transcription	Lung	lung
24	chr1:151520600-151542000	Weak transcription	Right Ventricle	heart
25	chr1:151520600-151545200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:151520800-151522600	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr1:151520800-151535600	Weak transcription	Colonic Mucosa	Colon
28	chr1:151520800-151535600	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:151521600-151537800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:151521600-151538600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:151521800-151522600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:151521800-151522600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:151521800-151522600	Genic enhancers	Fetal Intestine Small	intestine
34	chr1:151521800-151541800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:151521800-151559000	Weak transcription	Small Intestine	intestine
36	chr1:151522000-151522600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:151522000-151523000	Weak transcription	NHDF-Ad	bronchial
38	chr1:151522000-151524200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:151522000-151525600	Genic enhancers	NHEK	skin
40	chr1:151522000-151526800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:151522000-151533000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:151522000-151534200	Weak transcription	Pancreas	Pancrea
43	chr1:151522000-151534800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:151522000-151535000	Weak transcription	HSMMtube	muscle
45	chr1:151522000-151536600	Weak transcription	Esophagus	oesophagus
46	chr1:151522000-151537600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:151522200-151522600	Enhancers	Hela-S3	cervix
48	chr1:151522200-151522800	Enhancers	A549	lung
49	chr1:151522200-151523200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:151522200-151525600	Weak transcription	HSMM	muscle

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