Variant report

Variant	rs532127589
Chromosome Location	chr11:4631615-4631616
allele	A/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	SPI1	chr11:4631461-4631917	GM12878	blood:	n/a	chr11:4631730-4631743 chr11:4631733-4631742 chr11:4631711-4631718 chr11:4631731-4631744
2	SPI1	chr11:4631585-4631887	GM12891	blood:	n/a	chr11:4631730-4631743 chr11:4631733-4631742 chr11:4631711-4631718 chr11:4631731-4631744
3	SPI1	chr11:4631540-4631903	GM12878	blood:	n/a	chr11:4631730-4631743 chr11:4631733-4631742 chr11:4631711-4631718 chr11:4631731-4631744
4	CTCF	chr11:4631560-4631710	HPAF	blood vessel:	n/a	n/a
5	IRF1	chr11:4631519-4631864	K562	blood:	n/a	chr11:4631696-4631707 chr11:4631549-4631562 chr11:4631549-4631562 chr11:4631694-4631711 chr11:4631697-4631710 chr11:4631549-4631560 chr11:4631697-4631708 chr11:4631692-4631709 chr11:4631736-4631745 chr11:4631550-4631560
6	PRDM1	chr11:4631584-4631855	Hela-S3	cervix:	n/a	chr11:4631695-4631709 chr11:4631694-4631709 chr11:4631696-4631705
7	SPI1	chr11:4631507-4631982	HL-60	blood:	n/a	chr11:4631730-4631743 chr11:4631733-4631742 chr11:4631711-4631718 chr11:4631731-4631744
8	CTCF	chr11:4631520-4631670	GM12872	blood:	n/a	n/a
9	IKZF1	chr11:4631593-4631915	GM12878	blood:	n/a	n/a
10	CTCF	chr11:4631560-4631710	AoAF	blood vessel:	n/a	n/a
11	SPI1	chr11:4631479-4631852	GM12891	blood:	n/a	chr11:4631730-4631743 chr11:4631733-4631742 chr11:4631711-4631718 chr11:4631731-4631744

Variant related genes	Relation type
TRIM68	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043803	chr11:4388448-4837042	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv540916	chr11:4388448-4837042	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv1048224	chr11:4390227-4920324	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
4	nsv540917	chr11:4390227-4920324	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv896911	chr11:4400801-4806872	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv1052736	chr11:4519302-4635855	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv540921	chr11:4519302-4635855	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv832055	chr11:4550894-4736340	Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv870335	chr11:4568743-4654458	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1054705	chr11:4582150-4687238	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv3424302	chr11:4585155-4880050	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
12	nsv553173	chr11:4587940-4689742	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1054801	chr11:4590126-4689520	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv540923	chr11:4590126-4689520	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv553174	chr11:4592718-4682376	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1041836	chr11:4594628-4685732	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv540924	chr11:4594628-4685732	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv1047741	chr11:4598125-4689520	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv540925	chr11:4598125-4689520	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv540926	chr11:4621196-4639254	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv540927	chr11:4628274-4639254	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv540928	chr11:4628274-4647615	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv540929	chr11:4628274-4669343	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	nsv540930	chr11:4631455-4647615	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	nsv540931	chr11:4631455-4662608	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
26	nsv540932	chr11:4631455-4666157	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4630000-4633200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:4631000-4632000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
3	chr11:4631000-4632000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr11:4631200-4631800	Enhancers	Small Intestine	intestine
5	chr11:4631200-4632000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr11:4631200-4632000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr11:4631200-4632000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr11:4631200-4632000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:4631200-4632000	Active TSS	Right Atrium	heart
10	chr11:4631200-4632000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr11:4631400-4631800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr11:4631400-4631800	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr11:4631400-4631800	Active TSS	Primary T cells from cord blood	blood
14	chr11:4631400-4631800	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr11:4631400-4631800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:4631400-4631800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:4631400-4631800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:4631400-4631800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr11:4631400-4631800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:4631400-4631800	Enhancers	Liver	Liver
21	chr11:4631400-4631800	Active TSS	Brain Hippocampus Middle	brain
22	chr11:4631400-4631800	Active TSS	Rectal Smooth Muscle	rectum
23	chr11:4631400-4631800	Active TSS	NHDF-Ad	bronchial
24	chr11:4631400-4632000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr11:4631400-4632000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr11:4631400-4632000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:4631400-4632000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:4631400-4632000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:4631400-4632000	Active TSS	Aorta	Aorta
30	chr11:4631400-4632000	Active TSS	Brain Angular Gyrus	brain
31	chr11:4631400-4632000	Active TSS	Duodenum Mucosa	Duodenum
32	chr11:4631400-4632000	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr11:4631400-4632000	Active TSS	Stomach Smooth Muscle	stomach
34	chr11:4631400-4632000	Enhancers	Dnd41	blood
35	chr11:4631400-4632000	Flanking Active TSS	GM12878-XiMat	blood
36	chr11:4631400-4632000	Active TSS	NHLF	lung
37	chr11:4631400-4632200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:4631400-4632200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr11:4631600-4631800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:4631600-4631800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr11:4631600-4631800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:4631600-4631800	Enhancers	Psoas Muscle	Psoas
43	chr11:4631600-4631800	Enhancers	Thymus	Thymus
44	chr11:4631600-4632000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:4631600-4632000	Active TSS	Primary T cells fromperipheralblood	blood
46	chr11:4631600-4632000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr11:4631600-4632000	Active TSS	Adipose Nuclei	Adipose
48	chr11:4631600-4632000	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr11:4631600-4632000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:4631600-4632000	Enhancers	Lung	lung

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