Variant report

Variant	rs17021331
Chromosome Location	chr3:28323259-28323260
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	chr3:28320610..28323454-chr3:28344895..28347775,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1606390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17021177	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17021318	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17021333	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17021335	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17021341	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17021351	1.00[YRI][hapmap]
rs17021353	0.83[YRI][hapmap]
rs17021368	0.83[YRI][hapmap]
rs17021369	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17021374	0.83[YRI][hapmap]
rs17021381	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17029779	0.83[YRI][hapmap]
rs6770341	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6796243	1.00[AFR][1000 genomes];1.00[AMR][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	esv3328565	chr3:27991169-28915035	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv876649	chr3:28126595-28718454	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28303600-28340600	Weak transcription	NHEK	skin
2	chr3:28304200-28332400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr3:28306400-28332400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr3:28306600-28335800	Weak transcription	Hela-S3	cervix
5	chr3:28309000-28336600	Weak transcription	HUVEC	blood vessel
6	chr3:28314200-28332400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:28314400-28332400	Weak transcription	Ovary	ovary
8	chr3:28314400-28365400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:28314600-28332600	Weak transcription	Left Ventricle	heart
10	chr3:28314800-28343400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr3:28315000-28332400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr3:28315000-28333000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:28315000-28363000	Weak transcription	A549	lung
14	chr3:28315200-28332200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:28315600-28325800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr3:28315600-28326400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr3:28315600-28332400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:28315600-28332400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr3:28315600-28332400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr3:28315800-28332200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr3:28315800-28332200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr3:28315800-28332400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr3:28316000-28332000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr3:28316200-28333200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr3:28316400-28332000	Weak transcription	K562	blood
26	chr3:28317000-28328400	Weak transcription	Brain Anterior Caudate	brain
27	chr3:28317200-28332200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr3:28317400-28332000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr3:28317400-28332400	Weak transcription	HSMM	muscle
30	chr3:28317400-28337200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr3:28317600-28325800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr3:28317600-28326000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:28317600-28331800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:28317600-28331800	Weak transcription	GM12878-XiMat	blood
35	chr3:28317600-28332200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr3:28317600-28332400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:28317600-28332400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr3:28317600-28332400	Weak transcription	Lung	lung
39	chr3:28317600-28332400	Weak transcription	Thymus	Thymus
40	chr3:28317600-28337000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr3:28317600-28337000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr3:28317600-28337200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr3:28317600-28337600	Weak transcription	Fetal Intestine Large	intestine
44	chr3:28317600-28341200	Weak transcription	Fetal Thymus	thymus
45	chr3:28317600-28380000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:28317600-28389400	Weak transcription	Esophagus	oesophagus
47	chr3:28317800-28331800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:28317800-28332400	Weak transcription	Fetal Stomach	stomach
49	chr3:28317800-28332400	Weak transcription	Right Ventricle	heart
50	chr3:28317800-28337200	Weak transcription	Fetal Intestine Small	intestine

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