Variant report

Variant	rs829701
Chromosome Location	chr2:30644092-30644093
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30643798..30646343-chr2:30647095..30650083,5	K562	blood:
2	chr2:30560615..30562781-chr2:30642971..30644684,2	K562	blood:
3	chr2:30643130..30645110-chr2:30649070..30651101,2	MCF-7	breast:
4	chr2:30643531..30645684-chr2:30646943..30651051,5	K562	blood:
5	chr2:30644068..30646779-chr2:30882858..30884362,2	K562	blood:
6	chr2:30368074..30370588-chr2:30643535..30646269,2	K562	blood:

Variant related genes	Relation type
ENSG00000119801	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1252651	0.90[ASN][1000 genomes]
rs1252654	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs829563	0.84[ASN][1000 genomes]
rs829564	0.84[ASN][1000 genomes]
rs829565	0.84[ASN][1000 genomes]
rs829581	0.84[ASN][1000 genomes]
rs829639	0.84[ASN][1000 genomes]
rs829653	0.87[ASN][1000 genomes]
rs829681	0.90[ASN][1000 genomes]
rs829684	0.90[ASN][1000 genomes]
rs829694	0.90[ASN][1000 genomes]
rs829695	0.90[ASN][1000 genomes]
rs829696	0.90[ASN][1000 genomes]
rs829699	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs829700	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs860487	0.90[ASN][1000 genomes]
rs866680	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv1799950	chr2:30632520-30654319	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30627600-30647200	Weak transcription	Brain Angular Gyrus	brain
2	chr2:30628000-30644400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:30632200-30644600	Weak transcription	Esophagus	oesophagus
4	chr2:30634000-30644400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:30636400-30644400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:30636400-30644400	Weak transcription	Gastric	stomach
7	chr2:30636800-30644400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:30637400-30644200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:30637400-30644600	Weak transcription	Fetal Brain Male	brain
10	chr2:30640000-30644200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:30640000-30644400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:30640200-30644400	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:30640200-30644400	Weak transcription	Right Atrium	heart
14	chr2:30640200-30644400	Weak transcription	Small Intestine	intestine
15	chr2:30640200-30644600	Weak transcription	Adipose Nuclei	Adipose
16	chr2:30640400-30644200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:30640400-30644200	Weak transcription	Fetal Kidney	kidney
18	chr2:30640400-30644400	Weak transcription	Placenta	Placenta
19	chr2:30640400-30644600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:30640600-30644200	Weak transcription	Fetal Intestine Small	intestine
21	chr2:30643200-30644600	Enhancers	Primary B cells from cord blood	blood
22	chr2:30643400-30644400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr2:30643400-30644400	Enhancers	Dnd41	blood
24	chr2:30643400-30644400	Enhancers	GM12878-XiMat	blood
25	chr2:30643400-30645600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:30643400-30646400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:30643600-30644400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:30643600-30644400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr2:30643600-30644400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:30643600-30644400	Enhancers	NHLF	lung
31	chr2:30643600-30644600	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr2:30643600-30644600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr2:30643600-30644600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr2:30643600-30645400	Enhancers	NHDF-Ad	bronchial
35	chr2:30643600-30648200	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr2:30643800-30644200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:30643800-30644400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:30643800-30644400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:30643800-30644600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:30643800-30644600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:30643800-30644600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:30643800-30644600	Enhancers	Fetal Lung	lung
43	chr2:30643800-30644600	Enhancers	Fetal Thymus	thymus
44	chr2:30643800-30644800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:30643800-30644800	Enhancers	Osteobl	bone
46	chr2:30643800-30645200	Flanking Active TSS	Fetal Heart	heart
47	chr2:30643800-30645600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr2:30643800-30646400	Enhancers	Primary B cells from peripheral blood	blood
49	chr2:30643800-30646400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:30643800-30646400	Enhancers	K562	blood

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