Variant report

Variant	rs535849473
Chromosome Location	chr11:3880729-3880730
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	CBX3	chr11:3880599-3881137	K562	blood:	n/a	n/a
2	POLR2A	chr11:3880704-3881044	GM12891	blood:	n/a	n/a
3	MYC	chr11:3880532-3881039	K562	blood:	n/a	n/a
4	TAF1	chr11:3880724-3881177	K562	blood:	n/a	n/a
5	MEF2C	chr11:3880623-3881130	GM12878	blood:	n/a	chr11:3880968-3880983 chr11:3880970-3880981 chr11:3880968-3880982 chr11:3880966-3880987
6	UBTF	chr11:3880728-3881040	K562	blood:	n/a	n/a
7	POLR2A	chr11:3880623-3881232	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:3880467-3881266	GM12878	blood:	n/a	n/a
9	PML	chr11:3880350-3881208	GM12878	blood:	n/a	n/a
10	UBTF	chr11:3880720-3881150	K562	blood:	n/a	n/a
11	YY1	chr11:3880477-3881130	GM12878	blood:	n/a	chr11:3880953-3880961 chr11:3880949-3880961 chr11:3880947-3880967
12	SRF	chr11:3880699-3881099	ECC-1	luminal epithelium:	n/a	chr11:3880935-3880953
13	SRF	chr11:3880700-3881093	GM12878	blood:	n/a	chr11:3880935-3880953
14	YY1	chr11:3880437-3881094	K562	blood:	n/a	chr11:3880953-3880961 chr11:3880949-3880961 chr11:3880947-3880967
15	POLR2A	chr11:3880530-3881089	K562	blood:	n/a	n/a
16	POLR2A	chr11:3880656-3881165	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:3880611-3881097	GM12891	blood:	n/a	n/a
18	POLR2A	chr11:3880644-3881082	GM12892	blood:	n/a	n/a
19	POLR2A	chr11:3880454-3881304	GM12878	blood:	n/a	n/a
20	YY1	chr11:3880497-3881173	GM12878	blood:	n/a	chr11:3880953-3880961 chr11:3880949-3880961 chr11:3880947-3880967
21	ARID3A	chr11:3880659-3881511	K562	blood:	n/a	n/a
22	MAZ	chr11:3880559-3881170	K562	blood:	n/a	n/a
23	POLR2A	chr11:3880658-3881066	GM12892	blood:	n/a	n/a
24	POLR2A	chr11:3880660-3881245	K562	blood:	n/a	n/a
25	MXI1	chr11:3880537-3881363	GM12878	blood:	n/a	n/a
26	POU2F2	chr11:3880705-3881142	GM12878	blood:	n/a	chr11:3880962-3880980 chr11:3880967-3880975 chr11:3880966-3880976 chr11:3880965-3880976 chr11:3880964-3880979
27	POLR2A	chr11:3880636-3881233	GM15510	blood:	n/a	n/a
28	RCOR1	chr11:3880068-3881118	GM12878	blood:	n/a	n/a
29	CHD2	chr11:3880463-3881167	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:3880677-3881092	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:3880408-3881250	GM12892	blood:	n/a	n/a
32	TBL1XR1	chr11:3880703-3882331	K562	blood:	n/a	n/a
33	YY1	chr11:3880551-3881035	GM12892	blood:	n/a	chr11:3880953-3880961 chr11:3880949-3880961 chr11:3880947-3880967
34	POLR2A	chr11:3880674-3881318	SK-N-MC	brain:	n/a	n/a
35	YY1	chr11:3880598-3881093	GM12891	blood:	n/a	chr11:3880953-3880961 chr11:3880949-3880961 chr11:3880947-3880967
36	WRNIP1	chr11:3879585-3881173	GM12878	blood:	n/a	n/a
37	YY1	chr11:3880427-3881144	GM12892	blood:	n/a	chr11:3880953-3880961 chr11:3880949-3880961 chr11:3880947-3880967
38	BHLHE40	chr11:3880695-3880969	K562	blood:	n/a	n/a
39	POU2F2	chr11:3880636-3881157	GM12891	blood:	n/a	chr11:3880962-3880980 chr11:3880967-3880975 chr11:3880966-3880976 chr11:3880965-3880976 chr11:3880964-3880979
40	GATA1	chr11:3880647-3880985	PBDEFetal	blood:	n/a	n/a
41	YY1	chr11:3880561-3881117	K562	blood:	n/a	chr11:3880953-3880961 chr11:3880949-3880961 chr11:3880947-3880967
42	TBP	chr11:3880719-3881261	GM12878	blood:	n/a	n/a
43	RUNX3	chr11:3880582-3881236	GM12878	blood:	n/a	n/a
44	MAX	chr11:3880500-3881076	K562	blood:	n/a	n/a
45	POLR2A	chr11:3880516-3881323	GM12891	blood:	n/a	n/a
46	POU2F2	chr11:3880705-3881122	GM12891	blood:	n/a	chr11:3880962-3880980 chr11:3880967-3880975 chr11:3880966-3880976 chr11:3880965-3880976 chr11:3880964-3880979
47	POU2F2	chr11:3880580-3881167	GM12878	blood:	n/a	chr11:3880962-3880980 chr11:3880967-3880975 chr11:3880966-3880976 chr11:3880965-3880976 chr11:3880964-3880979
48	NR2F2	chr11:3880707-3881447	K562	blood:	n/a	n/a
49	RUNX3	chr11:3880527-3881168	GM12878	blood:	n/a	n/a
50	TBP	chr11:3880727-3881167	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:3868931..3871708-chr11:3879201..3881695,3	K562	blood:
2	chr11:3880710..3882363-chr11:4111617..4114224,2	K562	blood:
3	chr11:3880298..3882156-chr11:3929385..3931487,2	K562	blood:
4	chr11:3876409..3878027-chr11:3879355..3881248,2	MCF-7	breast:
5	chr11:3880021..3883743-chr11:3910117..3913050,3	K562	blood:

Variant related genes	Relation type
ENSG00000228661	TF binding region
ENSG00000263421	Chromatin interaction
ENSG00000228661	Chromatin interaction
ENSG00000167323	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1803195	chr11:3806490-3924156	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1046325	chr11:3856201-3895148	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
9	nsv1039059	chr11:3856201-3909415	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
10	nsv540910	chr11:3856201-3909415	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1051580	chr11:3856201-3924216	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
12	nsv1043265	chr11:3856201-3926407	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
13	nsv896894	chr11:3859856-3888234	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
14	nsv869701	chr11:3879297-3973762	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3877200-3881200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:3877400-3881200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr11:3877400-3881200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr11:3877400-3881400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr11:3877400-3882600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr11:3877600-3881200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:3877600-3881400	Flanking Active TSS	Fetal Thymus	thymus
8	chr11:3877600-3883800	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr11:3877800-3881200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr11:3877800-3881200	Flanking Active TSS	Dnd41	blood
11	chr11:3878000-3881200	Enhancers	Brain Germinal Matrix	brain
12	chr11:3878000-3881200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr11:3878000-3881400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr11:3878000-3882400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr11:3878000-3883000	Weak transcription	Fetal Intestine Large	intestine
16	chr11:3878000-3883200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr11:3878000-3883200	Enhancers	Fetal Heart	heart
18	chr11:3878200-3881000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:3878200-3881200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:3878200-3881200	Enhancers	Placenta	Placenta
21	chr11:3878200-3881200	Enhancers	Gastric	stomach
22	chr11:3878200-3881200	Enhancers	Pancreas	Pancrea
23	chr11:3878200-3881200	Enhancers	Spleen	Spleen
24	chr11:3878200-3886800	Weak transcription	NHLF	lung
25	chr11:3878400-3881200	Enhancers	NHDF-Ad	bronchial
26	chr11:3878400-3881400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:3878400-3883200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr11:3878600-3881000	Enhancers	Fetal Lung	lung
29	chr11:3878600-3881200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:3878600-3881200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr11:3878600-3881200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr11:3878600-3881400	Enhancers	Left Ventricle	heart
33	chr11:3878600-3882400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:3878800-3881400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:3878800-3882400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr11:3878800-3882400	Flanking Active TSS	GM12878-XiMat	blood
37	chr11:3878800-3883200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr11:3879000-3880800	Weak transcription	Osteobl	bone
39	chr11:3879000-3881000	Enhancers	Brain Hippocampus Middle	brain
40	chr11:3879000-3881200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:3879000-3881200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:3879000-3881200	Enhancers	Ovary	ovary
43	chr11:3879000-3882200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:3879000-3883800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr11:3879200-3880800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:3879200-3881000	Enhancers	Aorta	Aorta
47	chr11:3879200-3881200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:3879200-3881200	Enhancers	Right Ventricle	heart
49	chr11:3879200-3881200	Enhancers	Hela-S3	cervix
50	chr11:3879200-3881200	Enhancers	NHEK	skin

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