Variant report

Variant	rs72908961
Chromosome Location	chr4:99919280-99919281
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99848351..99851753-chr4:99915675..99920876,6	MCF-7	breast:
2	chr4:99917543..99919718-chr4:100869895..100871909,3	K562	blood:
3	chr4:99842136..99852937-chr4:99913200..99922220,39	K562	blood:
4	chr4:99915508..99918687-chr4:99918792..99923436,6	MCF-7	breast:
5	chr4:99915655..99920524-chr4:100869895..100872849,4	K562	blood:
6	chr4:99844460..99852883-chr4:99909835..99921707,41	K562	blood:

Variant related genes	Relation type
ENSG00000164032	Chromatin interaction
ENSG00000245322	Chromatin interaction
ENSG00000265213	Chromatin interaction
ENSG00000263923	Chromatin interaction
ENSG00000238449	Chromatin interaction
ENSG00000151247	Chromatin interaction
ENSG00000164024	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10489130	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1377690	0.82[AFR][1000 genomes]
rs17028382	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17028421	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35933543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57770074	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58521602	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs60513719	1.00[AMR][1000 genomes]
rs6532777	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6822811	1.00[AMR][1000 genomes]
rs6834982	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6844771	1.00[AMR][1000 genomes]
rs6856734	0.84[AFR][1000 genomes]
rs72908917	0.81[AFR][1000 genomes]
rs72908953	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72908966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72908968	0.84[AMR][1000 genomes]
rs72908992	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72908996	0.85[AMR][1000 genomes]
rs7667503	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7670154	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99918000-99919400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:99918000-99919400	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr4:99918000-99920400	Enhancers	Small Intestine	intestine
4	chr4:99918000-99923600	Weak transcription	Gastric	stomach
5	chr4:99918000-99925400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:99918000-99928200	Weak transcription	Esophagus	oesophagus
7	chr4:99918200-99919400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr4:99918200-99919400	Enhancers	Fetal Lung	lung
9	chr4:99918200-99919600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:99918200-99919600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr4:99918200-99920200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr4:99918200-99920400	Enhancers	Fetal Intestine Small	intestine
13	chr4:99918200-99922000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:99918200-99922000	Weak transcription	Osteobl	bone
15	chr4:99918200-99923600	Weak transcription	Psoas Muscle	Psoas
16	chr4:99918200-99925000	Weak transcription	Right Atrium	heart
17	chr4:99918200-99925400	Weak transcription	Aorta	Aorta
18	chr4:99918200-99927400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:99918200-99928200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:99918200-99928400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr4:99918200-99930200	Weak transcription	Fetal Brain Male	brain
22	chr4:99918200-99930200	Weak transcription	HSMM	muscle
23	chr4:99918200-99931000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr4:99918200-99931400	Weak transcription	Fetal Muscle Leg	muscle
25	chr4:99918200-99935400	Weak transcription	Ovary	ovary
26	chr4:99918200-99935800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:99918200-99938000	Weak transcription	NHDF-Ad	bronchial
28	chr4:99918400-99919400	Enhancers	Fetal Brain Female	brain
29	chr4:99918600-99919400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr4:99918600-99919400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:99918600-99919400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr4:99918600-99919400	Enhancers	Fetal Heart	heart
33	chr4:99918600-99919400	Flanking Active TSS	HepG2	liver
34	chr4:99918600-99919600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:99918600-99919600	Enhancers	Fetal Intestine Large	intestine
36	chr4:99918600-99923000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:99918600-99923600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:99918600-99923600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr4:99918600-99924400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr4:99918600-99930200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr4:99918600-99930400	Weak transcription	Primary B cells from cord blood	blood
42	chr4:99918600-99937800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:99918600-99938600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr4:99918800-99919400	Enhancers	Fetal Thymus	thymus
45	chr4:99918800-99919800	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr4:99918800-99920000	Enhancers	Dnd41	blood
47	chr4:99918800-99923200	Weak transcription	Stomach Mucosa	stomach
48	chr4:99918800-99923600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr4:99918800-99926400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:99918800-99932200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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