Variant report

Variant	rs12532576
Chromosome Location	chr7:50434834-50434835
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr7:50434760-50435201	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:50434770-50435512	HL-60	blood:	n/a	n/a
3	CREB1	chr7:50434729-50435275	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50243616..50247294-chr7:50434768..50437607,4	K562	blood:

Variant related genes	Relation type
IKZF1	TF binding region
ENSG00000231681	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1007702	1.00[AFR][1000 genomes]
rs1007749	1.00[AFR][1000 genomes]
rs11575304	1.00[AFR][1000 genomes]
rs11575400	1.00[AFR][1000 genomes]
rs11575413	1.00[AFR][1000 genomes]
rs11575424	1.00[AFR][1000 genomes]
rs11575425	1.00[AFR][1000 genomes]
rs11575460	1.00[AFR][1000 genomes]
rs12534206	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17665398	1.00[AFR][1000 genomes]
rs17665588	1.00[AFR][1000 genomes]
rs17665670	1.00[AFR][1000 genomes]
rs1817073	1.00[AFR][1000 genomes]
rs3735276	0.86[AFR][1000 genomes]
rs4947580	1.00[AFR][1000 genomes]
rs4948201	1.00[AFR][1000 genomes]
rs4948216	1.00[AFR][1000 genomes]
rs6592962	1.00[AFR][1000 genomes]
rs6947293	1.00[AFR][1000 genomes]
rs6951323	1.00[AFR][1000 genomes]
rs6953661	1.00[AFR][1000 genomes]
rs6959596	1.00[AFR][1000 genomes]
rs6968322	1.00[AFR][1000 genomes]
rs731689	1.00[AFR][1000 genomes]
rs7791562	0.86[AFR][1000 genomes]
rs7792474	1.00[AFR][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	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

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50416800-50440000	Weak transcription	Gastric	stomach
2	chr7:50420000-50461800	Genic enhancers	Primary T cells fromperipheralblood	blood
3	chr7:50420600-50453400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
4	chr7:50427600-50437000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:50427800-50437000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:50428200-50441800	Genic enhancers	Fetal Thymus	thymus
7	chr7:50428600-50447800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:50429800-50435000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr7:50430600-50437400	Genic enhancers	Thymus	Thymus
10	chr7:50430600-50459800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr7:50430800-50436800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:50431000-50435000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr7:50431000-50435400	Strong transcription	Primary B cells from cord blood	blood
14	chr7:50431200-50436800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr7:50431200-50437000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr7:50431200-50460600	Strong transcription	Dnd41	blood
17	chr7:50431400-50472600	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr7:50432400-50440200	Strong transcription	Primary hematopoietic stem cells	blood
19	chr7:50432600-50435600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:50432800-50438600	Weak transcription	Spleen	Spleen
21	chr7:50433000-50436800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr7:50433400-50435800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:50434000-50435000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr7:50434000-50435400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:50434000-50435600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:50434000-50436400	Genic enhancers	Primary B cells from peripheral blood	blood
27	chr7:50434000-50436400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:50434000-50437400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
29	chr7:50434200-50436800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:50434400-50435200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:50434600-50435800	Enhancers	GM12878-XiMat	blood
32	chr7:50434600-50436800	Strong transcription	K562	blood
33	chr7:50434800-50435200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr7:50434800-50435400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr7:50434800-50435600	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
36	chr7:50434800-50437400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

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