Variant report

Variant	rs6990099
Chromosome Location	chr8:62613497-62613498
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	chr8:62585552..62587244-chr8:62613308..62616165,2	K562	blood:
2	chr8:62612675..62615533-chr8:62623174..62625946,2	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]
rs10090651	1.00[CEU][hapmap];0.90[YRI][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10098691	0.94[EUR][1000 genomes]
rs10099866	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10108427	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10111006	1.00[CEU][hapmap];0.84[CHB][hapmap];0.80[JPT][hapmap];0.84[YRI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11986004	1.00[CEU][hapmap];0.89[YRI][hapmap];0.94[EUR][1000 genomes]
rs11992990	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13255699	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16927652	1.00[CEU][hapmap];0.87[YRI][hapmap];0.93[EUR][1000 genomes]
rs16927767	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17205360	1.00[CEU][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17793991	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs2350917	1.00[CEU][hapmap];0.89[YRI][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2350925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28409877	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2882536	0.93[CEU][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35337652	0.94[EUR][1000 genomes]
rs35550451	0.93[EUR][1000 genomes]
rs35683980	0.94[EUR][1000 genomes]
rs4272369	0.86[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs4354302	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4377960	0.84[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4446731	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4515541	1.00[CEU][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4633055	0.96[CEU][hapmap];0.87[JPT][hapmap];0.93[YRI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6471968	1.00[CEU][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6549	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs67189750	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6984286	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6985520	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7009611	1.00[CEU][hapmap];0.90[YRI][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7015043	0.92[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7813834	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7830237	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7840731	1.00[CEU][hapmap];0.86[YRI][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7842421	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.84[ASN][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	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv890950	chr8:62517963-62617027	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62579400-62623000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr8:62603000-62613600	Weak transcription	Fetal Lung	lung
3	chr8:62604200-62614000	Transcr. at gene 5' and 3'	A549	lung
4	chr8:62607200-62619000	Weak transcription	NHEK	skin
5	chr8:62608600-62613800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:62609000-62619800	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:62610000-62621200	Weak transcription	Brain Anterior Caudate	brain
8	chr8:62610000-62624400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr8:62610200-62614400	Enhancers	Adipose Nuclei	Adipose
10	chr8:62610400-62620000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:62610600-62613800	Enhancers	HepG2	liver
12	chr8:62610600-62614400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:62610800-62613600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:62611000-62615600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr8:62611400-62614000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:62611400-62614000	Enhancers	NH-A	brain
17	chr8:62611400-62619400	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr8:62611600-62614000	Enhancers	Fetal Thymus	thymus
19	chr8:62611800-62618600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:62612000-62613800	Enhancers	Primary B cells from cord blood	blood
21	chr8:62612200-62613800	Enhancers	Psoas Muscle	Psoas
22	chr8:62612200-62613800	Enhancers	Right Atrium	heart
23	chr8:62612200-62613800	Enhancers	Right Ventricle	heart
24	chr8:62612200-62614400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:62612400-62613600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:62612400-62613800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:62612400-62613800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:62612400-62613800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr8:62612400-62613800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr8:62612400-62613800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:62612400-62613800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr8:62612400-62613800	Enhancers	Fetal Heart	heart
33	chr8:62612400-62614000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr8:62612400-62614000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr8:62612400-62614000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr8:62612400-62614000	Enhancers	HUVEC	blood vessel
37	chr8:62612400-62614200	Enhancers	Osteobl	bone
38	chr8:62612400-62614800	Enhancers	Stomach Mucosa	stomach
39	chr8:62612600-62613800	Enhancers	Primary B cells from peripheral blood	blood
40	chr8:62612600-62614000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:62612600-62614000	Genic enhancers	Hela-S3	cervix
42	chr8:62612600-62614000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr8:62612600-62614200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:62612800-62614000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:62612800-62619800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:62612800-62620000	Weak transcription	Liver	Liver
47	chr8:62613000-62613600	Weak transcription	Brain Angular Gyrus	brain
48	chr8:62613000-62613600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr8:62613000-62613800	Enhancers	Primary T cells fromperipheralblood	blood
50	chr8:62613000-62613800	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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