Variant report

Variant	rs1968396
Chromosome Location	chr2:128263780-128263781
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128261114..128269570-chr2:128281581..128286258,13	K562	blood:
2	chr2:128262614..128267545-chr2:128280339..128284643,6	K562	blood:
3	chr2:128263369..128266760-chr2:128270837..128273303,3	K562	blood:
4	chr2:128252742..128255070-chr2:128263163..128265839,2	K562	blood:

Variant related genes	Relation type
ENSG00000163166	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10432384	0.84[AFR][1000 genomes]
rs11694581	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12466957	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12475191	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12475389	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12476558	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13026187	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2303947	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3732207	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4662733	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7590705	0.84[AFR][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	nsv875014	chr2:128178415-128328375	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128223600-128268800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:128235200-128270000	Strong transcription	Dnd41	blood
3	chr2:128239200-128264800	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:128239400-128264400	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:128239400-128266200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:128239400-128266400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:128240400-128263800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:128240600-128265600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:128244600-128263800	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr2:128244600-128263800	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:128244600-128263800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:128244600-128263800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:128246200-128271800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:128248000-128264800	Weak transcription	Fetal Heart	heart
15	chr2:128248800-128263800	Strong transcription	Fetal Intestine Large	intestine
16	chr2:128253000-128263800	Strong transcription	Primary T cells from cord blood	blood
17	chr2:128254200-128263800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:128256600-128263800	Strong transcription	HepG2	liver
19	chr2:128257600-128265800	Weak transcription	Psoas Muscle	Psoas
20	chr2:128259800-128263800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr2:128262400-128263800	Strong transcription	Fetal Intestine Small	intestine
22	chr2:128262600-128265600	Weak transcription	Fetal Brain Female	brain
23	chr2:128262600-128266000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:128262600-128283000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr2:128263000-128264200	Weak transcription	Fetal Lung	lung
26	chr2:128263000-128264800	Enhancers	GM12878-XiMat	blood
27	chr2:128263000-128265600	Weak transcription	Small Intestine	intestine
28	chr2:128263000-128265800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:128263000-128265800	Weak transcription	Fetal Brain Male	brain
30	chr2:128263000-128266200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr2:128263000-128267600	Weak transcription	Stomach Mucosa	stomach
32	chr2:128263000-128272000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:128263000-128281200	Weak transcription	Fetal Kidney	kidney
34	chr2:128263200-128264200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:128263200-128264200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:128263200-128264200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:128263200-128264200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:128263200-128264200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:128263200-128264200	Weak transcription	Brain Substantia Nigra	brain
40	chr2:128263200-128264200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr2:128263200-128264200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:128263200-128264200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:128263200-128264200	Weak transcription	A549	lung
44	chr2:128263200-128264200	Weak transcription	NHLF	lung
45	chr2:128263200-128264400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:128263200-128264400	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:128263200-128264400	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:128263200-128264600	Weak transcription	Liver	Liver
49	chr2:128263200-128264600	Weak transcription	Brain Angular Gyrus	brain
50	chr2:128263200-128264600	Weak transcription	K562	blood

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