Variant report

Variant	rs57345445
Chromosome Location	chr7:50452462-50452463
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	chr7:50449168..50454095-chr7:50455547..50458876,4	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11575564	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1470746	0.84[EUR][1000 genomes]
rs17133828	0.84[EUR][1000 genomes]
rs17553002	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17553022	0.86[EUR][1000 genomes]
rs17634434	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17634488	0.84[EUR][1000 genomes]
rs5014165	0.85[ASN][1000 genomes]
rs57145809	0.84[EUR][1000 genomes]
rs58298367	0.84[EUR][1000 genomes]
rs58744984	0.84[EUR][1000 genomes]
rs59913779	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60056150	0.84[EUR][1000 genomes]
rs61731356	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72645704	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72645705	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72645706	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72645707	0.84[EUR][1000 genomes]
rs72645709	0.84[EUR][1000 genomes]
rs7779747	0.84[EUR][1000 genomes]
rs7779917	0.84[EUR][1000 genomes]
rs7792486	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv522250	chr7:50442726-50454736	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57345445	IKZF1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50420000-50461800	Genic enhancers	Primary T cells fromperipheralblood	blood
2	chr7:50420600-50453400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
3	chr7:50430600-50459800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr7:50431200-50460600	Strong transcription	Dnd41	blood
5	chr7:50431400-50472600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr7:50437000-50453600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr7:50437200-50460200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr7:50438600-50453000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:50439400-50460600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
10	chr7:50440800-50461400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:50441200-50459800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:50441200-50460200	Strong transcription	Thymus	Thymus
13	chr7:50441200-50460400	Strong transcription	Primary hematopoietic stem cells	blood
14	chr7:50441200-50460400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:50441800-50459200	Strong transcription	Fetal Thymus	thymus
16	chr7:50442200-50460200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:50443800-50453600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr7:50445400-50461400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:50446600-50453600	Strong transcription	GM12878-XiMat	blood
20	chr7:50446600-50461400	Weak transcription	Colonic Mucosa	Colon
21	chr7:50446800-50453400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:50447200-50453800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:50447200-50467400	Weak transcription	Esophagus	oesophagus
24	chr7:50447200-50467400	Weak transcription	Gastric	stomach
25	chr7:50448200-50455000	Weak transcription	Lung	lung
26	chr7:50449200-50467400	Weak transcription	Liver	Liver
27	chr7:50449600-50453800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr7:50449800-50459200	Strong transcription	Primary B cells from cord blood	blood
29	chr7:50450000-50452600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:50450200-50452800	Strong transcription	Duodenum Mucosa	Duodenum
31	chr7:50450200-50453200	Strong transcription	Spleen	Spleen
32	chr7:50450200-50453800	Strong transcription	K562	blood
33	chr7:50450400-50452800	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr7:50450400-50460000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:50450600-50455000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr7:50450600-50455000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:50450800-50453600	Genic enhancers	Primary T cells from cord blood	blood
38	chr7:50450800-50455200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr7:50451000-50453600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr7:50451000-50455000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr7:50451400-50455000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:50451400-50462600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr7:50451600-50452600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:50452000-50453000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
45	chr7:50452000-50454600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:50452200-50453200	Strong transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links