Variant report

Variant	rs7004411
Chromosome Location	chr8:90906549-90906550
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90903994..90907107-chr8:90915784..90918218,3	MCF-7	breast:
2	chr8:90901558..90909280-chr8:90911079..90918739,15	K562	blood:
3	chr8:90768445..90771938-chr8:90906213..90909369,3	MCF-7	breast:
4	chr8:90905258..90907260-chr8:90910485..90913048,2	MCF-7	breast:
5	chr8:90903731..90905757-chr8:90905807..90907590,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104312	Chromatin interaction
ENSG00000207359	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000251136	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10091400	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[MKK][hapmap];1.00[ASN][1000 genomes]
rs10098170	1.00[CHB][hapmap]
rs10102707	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1024156	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10504887	1.00[CHB][hapmap]
rs10956407	1.00[CHB][hapmap]
rs11989795	1.00[CHB][hapmap]
rs11991697	1.00[CHB][hapmap]
rs11992856	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11992886	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11995294	1.00[CHB][hapmap]
rs11998021	1.00[CHB][hapmap]
rs13262484	1.00[CHB][hapmap]
rs13312846	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs13312973	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[MKK][hapmap];1.00[ASN][1000 genomes]
rs13312981	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[MKK][hapmap];1.00[ASN][1000 genomes]
rs13312987	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16901426	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16901712	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1805785	1.00[CHB][hapmap]
rs1805805	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1805820	1.00[CHB][hapmap]
rs1805829	1.00[CHB][hapmap]
rs1805866	1.00[CHB][hapmap]
rs1805879	1.00[CHB][hapmap]
rs28488469	1.00[ASN][1000 genomes]
rs28533586	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28578207	1.00[ASN][1000 genomes]
rs62531975	0.83[ASN][1000 genomes]
rs62531976	0.83[ASN][1000 genomes]
rs62531977	0.83[ASN][1000 genomes]
rs62531978	0.83[ASN][1000 genomes]
rs6470477	1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6470521	1.00[CHB][hapmap]
rs6984959	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6986890	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6992671	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6998280	1.00[CHB][hapmap]
rs6998717	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6998735	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7000851	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[MKK][hapmap];1.00[ASN][1000 genomes]
rs7001024	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7004247	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7004759	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7005165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7005583	1.00[CHB][hapmap]
rs7009268	1.00[CHB][hapmap]
rs7013140	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7017304	1.00[CHB][hapmap]
rs717873	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs73696831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7813356	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7818989	1.00[CHB][hapmap]
rs7828593	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7829683	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7831876	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7834469	1.00[CHB][hapmap]
rs7837423	1.00[CHB][hapmap]
rs7841459	1.00[CHB][hapmap]
rs972376	1.00[CHB][hapmap]
rs983925	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90894400-90913400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr8:90895200-90913800	Weak transcription	Brain Angular Gyrus	brain
3	chr8:90895600-90913600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:90897600-90914000	Weak transcription	Gastric	stomach
5	chr8:90898600-90907800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:90899200-90913800	Weak transcription	Thymus	Thymus
7	chr8:90899400-90913800	Weak transcription	Small Intestine	intestine
8	chr8:90899800-90913600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr8:90900400-90909000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:90900600-90907800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr8:90900600-90908000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr8:90900600-90913400	Weak transcription	Liver	Liver
13	chr8:90900600-90913800	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:90900800-90907800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:90900800-90908000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr8:90900800-90913600	Weak transcription	Fetal Lung	lung
17	chr8:90900800-90913800	Weak transcription	Adipose Nuclei	Adipose
18	chr8:90900800-90913800	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:90902200-90909200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr8:90902400-90907200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr8:90902400-90910600	Weak transcription	K562	blood
22	chr8:90902400-90911000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr8:90902400-90913600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:90902400-90913800	Weak transcription	NHLF	lung
25	chr8:90902600-90907800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr8:90902600-90907800	Weak transcription	HUVEC	blood vessel
27	chr8:90902600-90909000	Weak transcription	NH-A	brain
28	chr8:90902600-90913200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:90902600-90913400	Weak transcription	NHEK	skin
30	chr8:90902600-90913600	Weak transcription	HepG2	liver
31	chr8:90903200-90906600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:90903200-90911000	Weak transcription	Hela-S3	cervix
33	chr8:90903400-90907200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr8:90904000-90913400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:90904200-90913400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr8:90904600-90907000	Enhancers	Brain Substantia Nigra	brain
37	chr8:90904600-90913400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:90904800-90914000	Weak transcription	Left Ventricle	heart
39	chr8:90905000-90913400	Weak transcription	Aorta	Aorta
40	chr8:90905000-90913600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:90905000-90913800	Weak transcription	Right Ventricle	heart
42	chr8:90905000-90914000	Weak transcription	Esophagus	oesophagus
43	chr8:90905000-90914000	Weak transcription	Lung	lung
44	chr8:90905400-90913400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:90905600-90906600	Transcr. at gene 5' and 3'	A549	lung
46	chr8:90905600-90913600	Weak transcription	Primary B cells from cord blood	blood
47	chr8:90905600-90913600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr8:90905800-90913400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr8:90905800-90913600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:90905800-90913600	Weak transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links