Variant report

Variant	rs3008433
Chromosome Location	chr1:154545464-154545465
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154538791..154541936-chr1:154544777..154546991,3	K562	blood:
2	chr1:154544363..154545938-chr1:154959372..154962138,2	MCF-7	breast:
3	chr1:154544232..154546095-chr17:57969748..57971747,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108443	Chromatin interaction
ENSG00000160688	Chromatin interaction
ENSG00000108423	Chromatin interaction
ENSG00000160716	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12072348	0.88[AFR][1000 genomes]

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	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	esv3420395	chr1:154541828-154546226	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154540800-154547000	Weak transcription	Brain Substantia Nigra	brain
2	chr1:154540800-154547400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:154540800-154550600	Weak transcription	Gastric	stomach
4	chr1:154540800-154550800	Weak transcription	HMEC	breast
5	chr1:154540800-154551600	Weak transcription	Pancreas	Pancrea
6	chr1:154541000-154547200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:154541000-154549800	Weak transcription	Right Atrium	heart
8	chr1:154541200-154550800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:154541400-154546800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:154541600-154547200	Weak transcription	Fetal Brain Male	brain
11	chr1:154542000-154547000	Strong transcription	Fetal Brain Female	brain
12	chr1:154542200-154546000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:154542600-154545800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:154542800-154546200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:154542800-154551600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:154544000-154550200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:154544400-154546800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:154544400-154547000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:154544400-154547200	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:154544400-154549600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:154544400-154550000	Weak transcription	A549	lung
22	chr1:154544400-154550200	Weak transcription	Thymus	Thymus
23	chr1:154544400-154550600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:154544400-154551200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr1:154544600-154549800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:154544800-154545600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:154544800-154545600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:154544800-154545800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr1:154544800-154545800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr1:154545000-154545600	Enhancers	Brain Angular Gyrus	brain
31	chr1:154545000-154545600	Active TSS	Brain Anterior Caudate	brain
32	chr1:154545000-154549200	Genic enhancers	Brain Germinal Matrix	brain
33	chr1:154545000-154550200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:154545200-154545600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr1:154545200-154545600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr1:154545200-154545600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr1:154545200-154545800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:154545200-154547200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:154545200-154547400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:154545400-154545600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:154545400-154546000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr1:154545400-154547000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:154545400-154549800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:154545400-154550800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr1:154545400-154561800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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