Variant report

Variant	rs72658375
Chromosome Location	chr8:63941744-63941745
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	FOXA1	chr8:63941307-63941875	HepG2	liver:	n/a	n/a
2	FOXA1	chr8:63941262-63942054	HepG2	liver:	n/a	n/a
3	BHLHE40	chr8:63941676-63942000	HepG2	liver:	n/a	n/a
4	SP1	chr8:63941331-63941929	HepG2	liver:	n/a	n/a
5	USF1	chr8:63941734-63941938	HepG2	liver:	n/a	chr8:63941842-63941853
6	USF2	chr8:63941723-63941907	HepG2	liver:	n/a	n/a
7	FOXA2	chr8:63941667-63941942	HepG2	liver:	n/a	n/a
8	ARID3A	chr8:63941401-63942030	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:63940680..63942601-chr8:63949219..63951590,2	MCF-7	breast:

Variant related genes	Relation type
GGH	TF binding region
ENSG00000137563	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1031552	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957265	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10957266	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10957268	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12541370	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12541993	0.80[ASN][1000 genomes]
rs12543020	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12548729	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12675369	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12676348	0.98[ASN][1000 genomes]
rs12676761	0.83[AMR][1000 genomes]
rs12677953	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677972	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680223	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12682112	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12682385	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16929941	0.83[AMR][1000 genomes]
rs1963949	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2305558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3824333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4310197	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4317561	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4404907	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4521747	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737620	0.83[AMR][1000 genomes]
rs4737625	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72656537	0.83[AMR][1000 genomes]
rs72656540	0.83[AMR][1000 genomes]
rs72658339	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72658340	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72658349	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72658350	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72658353	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72658359	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72658362	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72658367	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72658371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs930840	0.83[AMR][1000 genomes];0.91[ASN][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	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63922400-63941800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:63922600-63949200	Weak transcription	Fetal Brain Female	brain
3	chr8:63922800-63950000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:63922800-63950000	Weak transcription	HMEC	breast
5	chr8:63922800-63950800	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:63923600-63941800	Weak transcription	Brain Hippocampus Middle	brain
7	chr8:63923600-63944600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr8:63923800-63950600	Weak transcription	Fetal Kidney	kidney
9	chr8:63924000-63944800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr8:63924200-63941800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:63926200-63945200	Weak transcription	A549	lung
12	chr8:63926200-63949000	Weak transcription	Brain Germinal Matrix	brain
13	chr8:63926200-63949400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:63929200-63949200	Weak transcription	Fetal Brain Male	brain
15	chr8:63929400-63945400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:63931400-63950000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:63932200-63942800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:63935400-63949200	Weak transcription	K562	blood
19	chr8:63935800-63950000	Weak transcription	NHDF-Ad	bronchial
20	chr8:63936200-63949600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:63936400-63948800	Weak transcription	GM12878-XiMat	blood
22	chr8:63936400-63949400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:63936800-63949800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:63936800-63949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:63938000-63949200	Weak transcription	NHEK	skin
26	chr8:63938000-63950000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr8:63938200-63943200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr8:63938200-63950600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr8:63938600-63948600	Weak transcription	NH-A	brain
30	chr8:63938600-63949200	Weak transcription	HUVEC	blood vessel
31	chr8:63939200-63950000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:63939600-63949200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr8:63940600-63944400	Enhancers	HepG2	liver
34	chr8:63941000-63942600	Enhancers	Fetal Intestine Small	intestine
35	chr8:63941000-63942800	Enhancers	Fetal Intestine Large	intestine
36	chr8:63941200-63949600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:63941400-63943400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:63941400-63944200	Enhancers	Liver	Liver
39	chr8:63941400-63948600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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