Variant report

Variant	rs57145809
Chromosome Location	chr7:50515464-50515465
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50513305..50516149-chr7:50518034..50521611,5	MCF-7	breast:
2	chr7:50511615..50516146-chr7:50516267..50519150,6	K562	blood:
3	chr7:50509032..50512435-chr7:50512756..50515852,4	K562	blood:
4	chr7:50508600..50510665-chr7:50513721..50515795,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132436	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11575564	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1470746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133828	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17553002	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17553022	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17634434	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17634488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5014165	0.85[ASN][1000 genomes]
rs56819103	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57345445	0.84[EUR][1000 genomes]
rs58298367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58744984	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59913779	0.94[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60056150	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61731356	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72645704	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72645705	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72645706	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72645707	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72645709	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7779747	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7779917	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7792486	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes];0.97[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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57145809	IKZF1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50495200-50517200	Weak transcription	Stomach Mucosa	stomach
2	chr7:50496200-50517600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:50501000-50517400	Weak transcription	Esophagus	oesophagus
4	chr7:50502400-50517200	Weak transcription	Small Intestine	intestine
5	chr7:50504600-50517200	Weak transcription	Pancreas	Pancrea
6	chr7:50504800-50516000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:50504800-50516800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:50504800-50517400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr7:50505400-50517200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:50505400-50517200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:50505600-50516600	Weak transcription	Fetal Heart	heart
12	chr7:50505600-50517200	Weak transcription	Colonic Mucosa	Colon
13	chr7:50506200-50517200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:50507000-50516800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:50508800-50517200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:50509400-50517200	Weak transcription	Fetal Intestine Small	intestine
17	chr7:50509400-50517400	Weak transcription	Aorta	Aorta
18	chr7:50511600-50517200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:50512000-50517000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr7:50512200-50516800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:50513000-50515600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr7:50513000-50515600	Strong transcription	Fetal Thymus	thymus
23	chr7:50513000-50515800	Strong transcription	Fetal Stomach	stomach
24	chr7:50513000-50516400	Genic enhancers	Dnd41	blood
25	chr7:50513400-50516800	Weak transcription	NHLF	lung
26	chr7:50513600-50517400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:50514000-50517200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:50514200-50517200	Weak transcription	Fetal Brain Male	brain
29	chr7:50514200-50517200	Enhancers	Hela-S3	cervix
30	chr7:50514400-50516200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr7:50514600-50516600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:50514600-50516800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr7:50514600-50516800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:50514600-50516800	Weak transcription	Brain Angular Gyrus	brain
35	chr7:50514600-50517000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:50514600-50517200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:50514600-50517200	Weak transcription	Psoas Muscle	Psoas
38	chr7:50514600-50517200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr7:50514600-50517200	Weak transcription	Right Ventricle	heart
40	chr7:50514800-50516600	Weak transcription	Brain Germinal Matrix	brain
41	chr7:50514800-50516800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:50514800-50516800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:50514800-50517000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:50514800-50517000	Weak transcription	Fetal Muscle Leg	muscle
45	chr7:50514800-50517400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:50515000-50515800	Weak transcription	HepG2	liver
47	chr7:50515000-50516400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:50515000-50516600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:50515000-50516600	Weak transcription	Primary T cells from cord blood	blood
50	chr7:50515000-50516600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links