Variant report

Variant	rs7821176
Chromosome Location	chr8:131215093-131215094
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131213858..131216105-chr8:131217868..131219990,3	K562	blood:
2	chr8:131214869..131216491-chr8:131224118..131225672,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11779293	1.00[CHB][hapmap]
rs16904217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6470810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6982831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6992854	1.00[AMR][1000 genomes]
rs6996435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7010678	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73409328	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7812798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7816822	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7833272	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131179600-131218400	Weak transcription	Thymus	Thymus
2	chr8:131181000-131224600	Weak transcription	Hela-S3	cervix
3	chr8:131181200-131229000	Weak transcription	Aorta	Aorta
4	chr8:131195000-131224200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:131199200-131216800	Weak transcription	Stomach Mucosa	stomach
6	chr8:131199200-131229200	Weak transcription	Fetal Lung	lung
7	chr8:131200600-131215600	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:131200600-131218400	Weak transcription	HepG2	liver
9	chr8:131200600-131224600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:131200600-131224800	Weak transcription	Placenta	Placenta
11	chr8:131200600-131246600	Weak transcription	Pancreas	Pancrea
12	chr8:131205200-131215400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:131207200-131215600	Weak transcription	Lung	lung
14	chr8:131207800-131218400	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr8:131208400-131215600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:131209000-131218600	Weak transcription	Fetal Kidney	kidney
17	chr8:131209000-131224200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:131209200-131216600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:131209600-131261200	Weak transcription	Esophagus	oesophagus
20	chr8:131210000-131215400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:131210000-131216400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:131210000-131219600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:131210000-131250400	Weak transcription	Gastric	stomach
24	chr8:131210200-131225000	Weak transcription	Fetal Stomach	stomach
25	chr8:131210200-131230200	Weak transcription	Brain Germinal Matrix	brain
26	chr8:131210800-131215600	Enhancers	Primary T cells from cord blood	blood
27	chr8:131211200-131218800	Weak transcription	Fetal Intestine Small	intestine
28	chr8:131211400-131215400	Weak transcription	A549	lung
29	chr8:131211400-131218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:131211400-131219600	Weak transcription	Brain Anterior Caudate	brain
31	chr8:131211400-131225600	Weak transcription	Fetal Heart	heart
32	chr8:131211600-131215400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:131211600-131219600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr8:131211800-131215400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:131211800-131215400	Weak transcription	Spleen	Spleen
36	chr8:131211800-131216600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:131211800-131216600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:131211800-131216800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:131211800-131218400	Weak transcription	Fetal Intestine Large	intestine
40	chr8:131211800-131218800	Weak transcription	NH-A	brain
41	chr8:131211800-131219800	Weak transcription	HSMMtube	muscle
42	chr8:131211800-131224200	Weak transcription	Left Ventricle	heart
43	chr8:131212000-131222800	Weak transcription	Right Ventricle	heart
44	chr8:131212400-131215800	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr8:131212600-131215600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr8:131212600-131216000	Enhancers	Primary B cells from peripheral blood	blood
47	chr8:131212800-131215400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:131213200-131215200	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr8:131213200-131215800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr8:131213600-131219000	Weak transcription	Liver	Liver

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