Variant report

Variant	rs73578273
Chromosome Location	chr6:147179568-147179569
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr6:147178292-147179709	SK-N-SH	brain:	n/a	chr6:147178757-147178771 chr6:147178761-147178771
2	JUN	chr6:147175193-147179604	K562	blood:	n/a	chr6:147178979-147178991 chr6:147176865-147176875 chr6:147176865-147176875 chr6:147178350-147178364 chr6:147177670-147177681
3	POLR2A	chr6:147178243-147179618	K562	blood:	n/a	n/a
4	IRF1	chr6:147178479-147179673	K562	blood:	n/a	chr6:147179483-147179500 chr6:147179479-147179499 chr6:147179483-147179497 chr6:147179475-147179486 chr6:147179487-147179497 chr6:147179481-147179495 chr6:147179473-147179487
5	RAD21	chr6:147178188-147179761	SK-N-SH	brain:	n/a	chr6:147179005-147179018 chr6:147178756-147178775 chr6:147178761-147178773 chr6:147178723-147178735 chr6:147178759-147178772 chr6:147178761-147178771
6	POLR2A	chr6:147178112-147179727	K562	blood:	n/a	n/a
7	POLR2A	chr6:147176013-147179639	K562	blood:	n/a	n/a
8	POLR2A	chr6:147175961-147179623	K562	blood:	n/a	n/a
9	TEAD4	chr6:147178191-147179614	K562	blood:	n/a	chr6:147178425-147178434
10	TRIM28	chr6:147178410-147179581	K562	blood:	n/a	chr6:147179370-147179378
11	REST	chr6:147178497-147179661	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr6:147178220-147179611	K562	blood:	n/a	n/a
13	PML	chr6:147178060-147179734	K562	blood:	n/a	chr6:147179370-147179378

No.	Distal block	Cell Line	Cell type
1	chr6:147178857..147181755-chr6:147524235..147526085,2	MCF-7	breast:
2	chr6:147178602..147180311-chr6:147503523..147505454,2	K562	blood:
3	chr6:147177851..147181465-chr6:147522179..147525344,4	K562	blood:

Variant related genes	Relation type
ENSG00000227748	TF binding region
ENSG00000164506	Chromatin interaction
ENSG00000233452	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17076360	1.00[AMR][1000 genomes]
rs17076362	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17076363	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17076374	1.00[AMR][1000 genomes]
rs57792312	1.00[AMR][1000 genomes]
rs57950562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73576272	1.00[AMR][1000 genomes]
rs73576295	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73576301	1.00[AMR][1000 genomes]
rs73578215	1.00[AMR][1000 genomes]
rs73578247	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578253	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578261	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830838	chr6:147090745-147274669	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147178400-147179600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr6:147178600-147179600	Active TSS	Brain Hippocampus Middle	brain
3	chr6:147178800-147179600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:147178800-147179600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr6:147178800-147179600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:147178800-147179600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:147178800-147179600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr6:147178800-147179600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:147178800-147179600	Flanking Active TSS	Brain Cingulate Gyrus	brain
10	chr6:147178800-147179600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:147178800-147179600	Active TSS	Brain Substantia Nigra	brain
12	chr6:147178800-147179600	Active TSS	Fetal Kidney	kidney
13	chr6:147178800-147179600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr6:147178800-147179600	Active TSS	Right Atrium	heart
15	chr6:147179000-147179600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:147179000-147179600	Flanking Active TSS	NHDF-Ad	bronchial
17	chr6:147179000-147179600	Flanking Active TSS	NHLF	lung
18	chr6:147179000-147180600	Weak transcription	NHEK	skin
19	chr6:147179000-147181800	Weak transcription	Pancreas	Pancrea
20	chr6:147179000-147186000	Weak transcription	Esophagus	oesophagus
21	chr6:147179200-147179600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:147179200-147179600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:147179200-147179600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:147179200-147179600	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr6:147179200-147179600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr6:147179200-147179600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr6:147179200-147180600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:147179200-147181200	Weak transcription	Liver	Liver
29	chr6:147179400-147179600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:147179400-147179600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr6:147179400-147179600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr6:147179400-147179600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:147179400-147179600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:147179400-147179600	Active TSS	Brain Angular Gyrus	brain
35	chr6:147179400-147179600	Enhancers	Fetal Brain Male	brain
36	chr6:147179400-147179600	Enhancers	NH-A	brain
37	chr6:147179400-147179600	Active TSS	Osteobl	bone
38	chr6:147179400-147179800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr6:147179400-147180200	Active TSS	K562	blood
40	chr6:147179400-147180400	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr6:147179400-147180600	Weak transcription	HMEC	breast
42	chr6:147179400-147183800	Weak transcription	Monocytes-CD14+_RO01746	blood

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