Variant report

Variant	rs6990423
Chromosome Location	chr8:130870280-130870281
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	chr8:130868089..130870715-chr8:130884298..130886456,2	K562	blood:
2	chr8:130870152..130872253-chr8:130876163..130877875,2	K562	blood:

Variant related genes	Relation type
ENSG00000243402	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10283332	1.00[ASN][1000 genomes]
rs16904160	0.87[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1871942	1.00[ASN][1000 genomes]
rs2086642	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59478650	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6993757	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6996782	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7007654	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7016028	0.84[AFR][1000 genomes]
rs7814585	1.00[ASN][1000 genomes]
rs7815052	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7846233	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9886600	0.83[GIH][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130839200-130882000	Weak transcription	Right Ventricle	heart
2	chr8:130845600-130882000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:130846000-130882000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:130846400-130881800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:130850800-130884000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:130851000-130883800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr8:130851200-130878600	Weak transcription	Ovary	ovary
8	chr8:130851600-130884600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr8:130851800-130875400	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr8:130852000-130875200	Strong transcription	Primary B cells from peripheral blood	blood
11	chr8:130852000-130878600	Strong transcription	Fetal Thymus	thymus
12	chr8:130852000-130879400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr8:130852000-130883800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr8:130852200-130883800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr8:130852600-130872200	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:130853000-130870400	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:130854000-130878800	Weak transcription	Colonic Mucosa	Colon
18	chr8:130855600-130874600	Strong transcription	Liver	Liver
19	chr8:130856000-130870600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:130860000-130882400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:130860400-130871200	Strong transcription	Dnd41	blood
22	chr8:130860800-130871000	Strong transcription	Primary B cells from cord blood	blood
23	chr8:130862000-130882400	Weak transcription	NHLF	lung
24	chr8:130862600-130884400	Weak transcription	Fetal Brain Male	brain
25	chr8:130863600-130886800	Weak transcription	Fetal Lung	lung
26	chr8:130863800-130876800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:130864000-130882400	Weak transcription	Esophagus	oesophagus
28	chr8:130864400-130870800	Weak transcription	Spleen	Spleen
29	chr8:130864400-130871000	Weak transcription	Lung	lung
30	chr8:130864400-130871200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:130864400-130871600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:130864400-130871600	Weak transcription	Fetal Stomach	stomach
33	chr8:130864400-130872200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr8:130864400-130876600	Weak transcription	Pancreas	Pancrea
35	chr8:130864400-130876800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:130864400-130876800	Weak transcription	Gastric	stomach
37	chr8:130864400-130903600	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:130864600-130870800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:130864600-130871800	Weak transcription	Brain Anterior Caudate	brain
40	chr8:130864600-130882200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr8:130864600-130882400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr8:130864600-130882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:130864600-130888200	Weak transcription	Small Intestine	intestine
44	chr8:130864800-130898200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:130865000-130872000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr8:130865000-130897400	Weak transcription	Psoas Muscle	Psoas
47	chr8:130865200-130887200	Weak transcription	Fetal Kidney	kidney
48	chr8:130865200-130897600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr8:130865400-130871000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:130865400-130882200	Weak transcription	Brain Germinal Matrix	brain

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