Variant report

Variant	rs73268678
Chromosome Location	chr8:63935678-63935679
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	POLR2A	chr8:63935561-63935721	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:63935416..63938127-chr8:63942225..63943777,2	K562	blood:
2	chr8:63925295..63930979-chr8:63933165..63939315,7	K562	blood:

Variant related genes	Relation type
ENSG00000253121	TF binding region
ENSG00000137563	Chromatin interaction
ENSG00000240915	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11991808	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11993344	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1378519	1.00[EUR][1000 genomes]
rs1455577	1.00[EUR][1000 genomes]
rs2353365	1.00[EUR][1000 genomes]
rs2883147	1.00[EUR][1000 genomes]
rs4270960	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57145420	1.00[EUR][1000 genomes]
rs57317205	1.00[EUR][1000 genomes]
rs58136897	1.00[EUR][1000 genomes]
rs60595425	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61143666	1.00[EUR][1000 genomes]
rs61144659	1.00[EUR][1000 genomes]
rs6472082	1.00[EUR][1000 genomes]
rs6981955	1.00[EUR][1000 genomes]
rs6982424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6986007	1.00[EUR][1000 genomes]
rs7000002	1.00[EUR][1000 genomes]
rs7003391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7014890	1.00[EUR][1000 genomes]
rs73254921	1.00[EUR][1000 genomes]
rs73254933	1.00[EUR][1000 genomes]
rs73254954	1.00[EUR][1000 genomes]
rs73256855	1.00[EUR][1000 genomes]
rs73266757	1.00[EUR][1000 genomes]
rs73266758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73266781	1.00[EUR][1000 genomes]
rs73268679	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73268681	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73270521	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73270530	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73270590	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272416	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7823443	1.00[EUR][1000 genomes]
rs7831801	1.00[EUR][1000 genomes]
rs7833923	1.00[EUR][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	nsv1018879	chr8:63281724-63937632	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	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
3	nsv6227	chr8:63892087-63936952	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63922400-63941800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:63922600-63936600	Weak transcription	HSMM	muscle
3	chr8:63922600-63949200	Weak transcription	Fetal Brain Female	brain
4	chr8:63922800-63937600	Weak transcription	Fetal Thymus	thymus
5	chr8:63922800-63938000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:63922800-63938000	Weak transcription	Esophagus	oesophagus
7	chr8:63922800-63939200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:63922800-63941000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:63922800-63950000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:63922800-63950000	Weak transcription	HMEC	breast
11	chr8:63922800-63950800	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:63923400-63940800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:63923600-63941800	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:63923600-63944600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr8:63923800-63950600	Weak transcription	Fetal Kidney	kidney
16	chr8:63924000-63944800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr8:63924200-63941200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr8:63924200-63941800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:63924400-63937600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:63924800-63941000	Weak transcription	Fetal Intestine Small	intestine
21	chr8:63926000-63937400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr8:63926200-63945200	Weak transcription	A549	lung
23	chr8:63926200-63949000	Weak transcription	Brain Germinal Matrix	brain
24	chr8:63926200-63949400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:63926400-63936800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr8:63927000-63939800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:63928600-63936000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:63929000-63937000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:63929200-63949200	Weak transcription	Fetal Brain Male	brain
30	chr8:63929400-63945400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:63929600-63936000	Weak transcription	HepG2	liver
32	chr8:63929600-63937400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:63931200-63936200	Weak transcription	Thymus	Thymus
34	chr8:63931400-63936600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr8:63931400-63950000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:63932200-63942800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:63932600-63940200	Weak transcription	Primary B cells from cord blood	blood
38	chr8:63933000-63936400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr8:63933800-63936800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr8:63934000-63936800	Weak transcription	NH-A	brain
41	chr8:63934200-63935800	Weak transcription	HUVEC	blood vessel
42	chr8:63934400-63936800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr8:63934400-63937600	Weak transcription	NHEK	skin
44	chr8:63935000-63937200	Weak transcription	Osteobl	bone
45	chr8:63935200-63936000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:63935400-63939600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr8:63935400-63949200	Weak transcription	K562	blood
48	chr8:63935600-63936000	Strong transcription	Liver	Liver
49	chr8:63935600-63936200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:63935600-63936200	Strong transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links