Variant report

Variant	rs73003362
Chromosome Location	chr4:174232870-174232871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:174232739-174232968	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr4:174232671-174232871	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:174228695..174231199-chr4:174232859..174234793,2	K562	blood:
2	chr4:174211568..174213734-chr4:174230936..174233775,2	K562	blood:
3	chr4:174232325..174234632-chr4:174253098..174255865,2	K562	blood:
4	chr4:174226990..174229389-chr4:174231756..174233665,2	MCF-7	breast:
5	chr4:174229950..174233368-chr4:174235304..174239617,4	K562	blood:

No data

Variant related genes	Relation type
GALNT7	TF binding region
ENSG00000109586	Chromatin interaction
ENSG00000164104	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10471199	0.81[ASN][1000 genomes]
rs11132982	0.92[ASN][1000 genomes]
rs11722602	0.86[EUR][1000 genomes]
rs11722807	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11724459	1.00[EUR][1000 genomes]
rs11726679	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11728029	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11729778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11731057	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11731262	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11734517	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11736050	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1481120	0.95[ASN][1000 genomes]
rs34885736	1.00[EUR][1000 genomes]
rs3733476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3775590	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3775591	0.89[ASN][1000 genomes]
rs4695829	0.85[ASN][1000 genomes]
rs56159092	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58185783	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58612091	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61470087	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6821844	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6842693	0.90[ASN][1000 genomes]
rs6853427	0.86[ASN][1000 genomes]
rs72999543	0.87[ASN][1000 genomes]
rs73001510	0.82[ASN][1000 genomes]
rs73001512	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73003342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73003349	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73003376	0.95[ASN][1000 genomes]
rs73005346	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73005350	0.81[AFR][1000 genomes]
rs73005351	0.81[AFR][1000 genomes]
rs73005353	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73005356	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73005357	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73005363	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7664847	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7665469	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7668435	0.89[ASN][1000 genomes]
rs7672055	0.86[ASN][1000 genomes]
rs7686909	0.88[ASN][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	nsv4610	chr4:174217026-174252627	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174206400-174249400	Weak transcription	Fetal Kidney	kidney
2	chr4:174209000-174233400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:174209000-174235000	Weak transcription	Colonic Mucosa	Colon
4	chr4:174210400-174235400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:174210400-174253000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr4:174210400-174253000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:174210600-174235200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr4:174210600-174235200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr4:174210600-174240200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:174210600-174253000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr4:174210800-174236200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:174210800-174252000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:174213600-174237200	Weak transcription	NHEK	skin
14	chr4:174213800-174235400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr4:174214800-174235600	Weak transcription	Adipose Nuclei	Adipose
16	chr4:174215000-174239400	Weak transcription	HUVEC	blood vessel
17	chr4:174215200-174233400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:174215200-174235200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:174215200-174236000	Weak transcription	Aorta	Aorta
20	chr4:174215200-174239600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr4:174215200-174249600	Weak transcription	Left Ventricle	heart
22	chr4:174215200-174254000	Weak transcription	Psoas Muscle	Psoas
23	chr4:174217200-174236000	Weak transcription	Stomach Mucosa	stomach
24	chr4:174217600-174253000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:174219000-174235200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr4:174220600-174236200	Weak transcription	Brain Substantia Nigra	brain
27	chr4:174222200-174235400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr4:174222400-174246800	Weak transcription	Fetal Lung	lung
29	chr4:174222800-174240200	Weak transcription	NHLF	lung
30	chr4:174222800-174253000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:174223200-174239600	Weak transcription	Osteobl	bone
32	chr4:174223200-174240200	Weak transcription	HSMMtube	muscle
33	chr4:174223400-174235400	Weak transcription	Brain Anterior Caudate	brain
34	chr4:174223400-174239600	Weak transcription	NHDF-Ad	bronchial
35	chr4:174223400-174239800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:174223400-174250600	Strong transcription	Dnd41	blood
37	chr4:174223400-174251600	Strong transcription	Fetal Thymus	thymus
38	chr4:174223600-174250400	Weak transcription	Hela-S3	cervix
39	chr4:174224000-174235200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:174224000-174235400	Weak transcription	Colon Smooth Muscle	Colon
41	chr4:174224400-174238000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr4:174225000-174239800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr4:174225200-174233000	Strong transcription	Primary T cells from cord blood	blood
44	chr4:174225200-174250800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr4:174225800-174233800	Strong transcription	Primary hematopoietic stem cells	blood
46	chr4:174226800-174235600	Weak transcription	HSMM	muscle
47	chr4:174226800-174242200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr4:174227000-174234600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr4:174227000-174235200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr4:174227000-174238400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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