Variant report

Variant	rs13264416
Chromosome Location	chr8:61632196-61632197
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61630639..61633398-chr8:61633883..61636594,3	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10092214	1.00[YRI][hapmap]
rs10104525	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10106752	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1017861	0.81[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1017862	0.81[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10283352	0.92[AMR][1000 genomes]
rs12680437	1.00[YRI][hapmap]
rs13253647	1.00[YRI][hapmap]
rs1483208	0.85[AMR][1000 genomes]
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]
rs28600309	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28710955	0.87[AMR][1000 genomes]
rs2946154	1.00[YRI][hapmap]
rs35331770	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3814483	1.00[YRI][hapmap]
rs4288413	0.82[JPT][hapmap];0.81[MEX][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs4738813	0.81[CEU][hapmap];0.81[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4738814	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4738816	0.91[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4738817	1.00[YRI][hapmap]
rs617834	1.00[YRI][hapmap]
rs652422	1.00[YRI][hapmap]
rs671204	1.00[YRI][hapmap]
rs7000166	1.00[YRI][hapmap]
rs7011801	0.86[AMR][1000 genomes]
rs7013249	1.00[YRI][hapmap]
rs7815543	1.00[YRI][hapmap]
rs7822621	1.00[YRI][hapmap]
rs876957	0.81[CEU][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs900503	0.91[CEU][hapmap];0.81[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs900504	1.00[YRI][hapmap];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
5	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
6	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61615600-61644400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:61621200-61646400	Weak transcription	Fetal Brain Male	brain
3	chr8:61621400-61632200	Weak transcription	HepG2	liver
4	chr8:61621600-61634200	Weak transcription	Primary T cells from cord blood	blood
5	chr8:61621600-61636400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:61621800-61638200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:61623200-61635800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:61623400-61632400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:61623400-61633000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:61626600-61636000	Weak transcription	Fetal Lung	lung
11	chr8:61627000-61632200	Weak transcription	Brain Germinal Matrix	brain
12	chr8:61627200-61633800	Weak transcription	Lung	lung
13	chr8:61627400-61633000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:61627400-61636000	Weak transcription	Spleen	Spleen
15	chr8:61627600-61633000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:61627600-61633000	Weak transcription	Fetal Muscle Leg	muscle
17	chr8:61627600-61633400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:61627600-61634800	Weak transcription	Fetal Intestine Large	intestine
19	chr8:61627600-61636600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:61627600-61637200	Weak transcription	HMEC	breast
21	chr8:61627800-61633800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:61627800-61634400	Weak transcription	Fetal Intestine Small	intestine
23	chr8:61627800-61638200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:61627800-61644400	Weak transcription	Fetal Kidney	kidney
25	chr8:61628200-61636200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:61628800-61632200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:61628800-61634200	Weak transcription	HSMMtube	muscle
28	chr8:61628800-61634600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:61628800-61636400	Weak transcription	Hela-S3	cervix
30	chr8:61628800-61636600	Weak transcription	NHEK	skin
31	chr8:61629000-61632200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:61629000-61632800	Weak transcription	Small Intestine	intestine
33	chr8:61629000-61633800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr8:61629000-61634000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr8:61629000-61634200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr8:61629000-61634200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:61629000-61634400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr8:61629000-61635800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr8:61629000-61636000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:61629000-61636000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:61629000-61637600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr8:61629200-61632200	Weak transcription	Brain Anterior Caudate	brain
43	chr8:61629200-61632600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr8:61629200-61632800	Weak transcription	Brain Substantia Nigra	brain
45	chr8:61629200-61633200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr8:61629200-61634200	Weak transcription	HSMM	muscle
47	chr8:61629400-61633200	Weak transcription	Brain Hippocampus Middle	brain
48	chr8:61629400-61634000	Weak transcription	Brain Angular Gyrus	brain
49	chr8:61630200-61637400	Weak transcription	Stomach Mucosa	stomach
50	chr8:61630400-61634400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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