Variant report

Variant	rs4738817
Chromosome Location	chr8:61620613-61620614
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61563492..61565513-chr8:61620455..61623990,3	MCF-7	breast:
2	chr8:61612592..61618600-chr8:61619190..61622495,7	MCF-7	breast:
3	chr8:61590260..61597729-chr8:61611560..61624694,18	MCF-7	breast:
4	chr8:61612691..61616083-chr8:61619050..61621954,3	K562	blood:
5	chr8:61619832..61624344-chr8:61624507..61628732,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171316	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10092214	0.82[ASW][hapmap];0.96[CEU][hapmap];0.80[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap]
rs10104525	0.83[AMR][1000 genomes]
rs10106752	1.00[YRI][hapmap]
rs1017861	1.00[YRI][hapmap]
rs1017862	1.00[YRI][hapmap]
rs12680437	0.82[ASW][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13253647	1.00[YRI][hapmap]
rs17826359	1.00[YRI][hapmap]
rs2056415	1.00[YRI][hapmap]
rs2326569	1.00[YRI][hapmap]
rs2326570	1.00[YRI][hapmap]
rs2326571	1.00[YRI][hapmap]
rs2680297	1.00[YRI][hapmap]
rs28412751	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28600309	0.82[AMR][1000 genomes]
rs2875967	1.00[YRI][hapmap]
rs2946154	1.00[YRI][hapmap]
rs35331770	0.82[AMR][1000 genomes]
rs3814483	1.00[YRI][hapmap]
rs4288413	0.95[MEX][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap]
rs4738813	0.82[ASW][hapmap];0.82[MEX][hapmap];1.00[YRI][hapmap]
rs4738814	0.81[AMR][1000 genomes]
rs4738816	0.90[ASW][hapmap];0.82[MEX][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs617834	1.00[YRI][hapmap]
rs652422	1.00[YRI][hapmap]
rs671204	1.00[YRI][hapmap]
rs7000166	1.00[YRI][hapmap]
rs7013249	1.00[YRI][hapmap]
rs7815543	1.00[YRI][hapmap]
rs7822621	1.00[YRI][hapmap]
rs876957	0.85[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap]
rs900503	0.90[ASW][hapmap];0.82[MEX][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs900504	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv824657	chr8:61555227-61626758	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1019809	chr8:61597918-61624034	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv539631	chr8:61597918-61624034	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv6219	chr8:61599770-61644558	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61603400-61626200	Weak transcription	Fetal Thymus	thymus
2	chr8:61607400-61627000	Weak transcription	Spleen	Spleen
3	chr8:61612600-61622000	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:61613600-61621000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:61613600-61621000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:61613600-61621000	Weak transcription	Lung	lung
7	chr8:61615200-61621000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:61615600-61621000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:61615600-61644400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:61616000-61621400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr8:61616200-61621200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:61616200-61626000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:61616400-61621400	Weak transcription	Aorta	Aorta
14	chr8:61616600-61621000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:61617000-61621800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:61617200-61621000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr8:61617400-61620800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:61617400-61620800	Weak transcription	Pancreas	Pancrea
19	chr8:61617600-61620800	Weak transcription	Right Atrium	heart
20	chr8:61618200-61620800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:61618800-61620800	Weak transcription	Primary T cells from cord blood	blood
22	chr8:61619000-61623200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:61619400-61623000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:61619600-61620800	Enhancers	HUVEC	blood vessel
25	chr8:61619600-61621200	Enhancers	Fetal Heart	heart
26	chr8:61619600-61621600	Enhancers	Adipose Nuclei	Adipose
27	chr8:61619600-61621600	Enhancers	Liver	Liver
28	chr8:61619600-61621800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr8:61619800-61620800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr8:61619800-61620800	Enhancers	A549	lung
31	chr8:61619800-61621000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr8:61619800-61621000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:61619800-61621000	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr8:61619800-61621200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr8:61619800-61621400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr8:61619800-61621400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:61619800-61621400	Enhancers	HepG2	liver
38	chr8:61619800-61621600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:61619800-61621600	Weak transcription	Primary B cells from cord blood	blood
40	chr8:61619800-61621600	Enhancers	Brain Cingulate Gyrus	brain
41	chr8:61619800-61621600	Enhancers	Psoas Muscle	Psoas
42	chr8:61619800-61621800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:61619800-61621800	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr8:61619800-61621800	Enhancers	HSMMtube	muscle
45	chr8:61619800-61622000	Enhancers	Brain Hippocampus Middle	brain
46	chr8:61619800-61622000	Enhancers	Fetal Lung	lung
47	chr8:61619800-61622000	Enhancers	Placenta Amnion	Placenta Amnion
48	chr8:61619800-61622200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr8:61619800-61622200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr8:61620000-61621800	Enhancers	Primary T helper cells fromperipheralblood	blood

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