Variant report

Variant	rs11880605
Chromosome Location	chr19:36393419-36393420
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:75)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:75 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr19:36393196-36393546	K562	blood:	n/a	n/a
2	NFIC	chr19:36392761-36393684	GM12878	blood:	n/a	n/a
3	RUNX3	chr19:36392704-36393592	GM12878	blood:	n/a	n/a
4	EGR1	chr19:36393214-36393514	K562	blood:	n/a	chr19:36393307-36393321 chr19:36393345-36393359
5	POLR2A	chr19:36392901-36393716	GM12891	blood:	n/a	n/a
6	POLR2A	chr19:36393168-36393712	GM15510	blood:	n/a	n/a
7	POLR2A	chr19:36392650-36393769	GM12878	blood:	n/a	n/a
8	SPI1	chr19:36392716-36393794	HL-60	blood:	n/a	n/a
9	POLR2A	chr19:36392680-36393837	GM12892	blood:	n/a	n/a
10	SPI1	chr19:36393217-36393599	GM12878	blood:	n/a	n/a
11	ELF1	chr19:36393162-36393592	K562	blood:	n/a	n/a
12	MTA3	chr19:36392654-36393933	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:36392730-36393882	GM18505	blood:	n/a	n/a
14	SP1	chr19:36393164-36393586	GM12878	blood:	n/a	n/a
15	CTCF	chr19:36393280-36393430	GM12872	blood:	n/a	n/a
16	RUNX3	chr19:36392748-36393889	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:36392694-36394049	HL-60	blood:	n/a	n/a
18	POLR2A	chr19:36393385-36393556	ProgFib	skin:	n/a	n/a
19	POLR2A	chr19:36393337-36393619	MCF-7	breast:	n/a	n/a
20	EGR1	chr19:36393209-36393438	GM12878	blood:	n/a	chr19:36393307-36393321 chr19:36393345-36393359
21	POU2F2	chr19:36392815-36393692	GM12878	blood:	n/a	n/a
22	POLR2A	chr19:36392781-36393837	Raji	blood:	n/a	n/a
23	IKZF1	chr19:36392799-36393797	GM12878	blood:	n/a	chr19:36393654-36393662
24	POLR2A	chr19:36393118-36393960	GM12892	blood:	n/a	n/a
25	POLR2A	chr19:36393319-36393433	MCF-7	breast:	n/a	n/a
26	ZBTB7A	chr19:36393287-36393582	K562	blood:	n/a	n/a
27	CTCF	chr19:36393300-36393450	GM06990	blood:	n/a	n/a
28	CTCF	chr19:36393300-36393450	GM12871	blood:	n/a	n/a
29	WRNIP1	chr19:36392800-36393548	GM12878	blood:	n/a	n/a
30	CTCF	chr19:36393320-36393470	GM12878	blood:	n/a	n/a
31	SPI1	chr19:36393289-36393583	GM12891	blood:	n/a	n/a
32	POLR2A	chr19:36393071-36393653	GM19193	blood:	n/a	n/a
33	STAT5A	chr19:36392919-36393581	GM12878	blood:	n/a	n/a
34	MAX	chr19:36393239-36393755	GM12878	blood:	n/a	n/a
35	STAT1	chr19:36393349-36393633	GM12878	blood:	n/a	n/a
36	EP300	chr19:36393339-36393584	GM12878	blood:	n/a	n/a
37	POLR2A	chr19:36393006-36393651	GM12878	blood:	n/a	n/a
38	POLR2A	chr19:36392715-36393988	GM12878	blood:	n/a	n/a
39	TCF3	chr19:36393184-36393704	GM12878	blood:	n/a	n/a
40	PML	chr19:36393087-36393810	GM12878	blood:	n/a	n/a
41	MAX	chr19:36393206-36393539	K562	blood:	n/a	n/a
42	POLR2A	chr19:36392876-36393780	HL-60	blood:	n/a	n/a
43	CTCF	chr19:36393330-36393433	GM12892	blood:	n/a	n/a
44	CTCF	chr19:36393300-36393450	GM12865	blood:	n/a	n/a
45	MAX	chr19:36392772-36393563	NB4	blood:	n/a	n/a
46	MYC	chr19:36392649-36393763	NB4	blood:	n/a	n/a
47	RELA	chr19:36392927-36393814	GM18505	blood:	n/a	n/a
48	POLR2A	chr19:36393147-36393841	GM12891	blood:	n/a	n/a
49	CTCF	chr19:36393300-36393450	GM12867	blood:	n/a	n/a
50	POLR2A	chr19:36393136-36393622	GM18951	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36359598..36361922-chr19:36393124..36395167,2	K562	blood:
2	chr19:36393311..36395845-chr19:36427548..36429396,2	MCF-7	breast:
3	chr19:36393181..36395162-chr19:36544398..36547293,2	K562	blood:
4	chr19:36390133..36392611-chr19:36392789..36396319,5	MCF-7	breast:

No data

Variant related genes	Relation type
NFKBID	TF binding region
HCST	TF binding region
ENSG00000161277	Chromatin interaction
ENSG00000161270	Chromatin interaction
ENSG00000126243	Chromatin interaction
ENSG00000075702	Chromatin interaction
ENSG00000167604	Chromatin interaction
ENSG00000105290	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11878548	0.92[LWK][hapmap];1.00[MKK][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11879200	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11879510	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11880279	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11880514	1.00[LWK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11881380	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11881594	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11882484	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11882681	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs14715	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36390800-36395400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr19:36391000-36395000	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr19:36391600-36394400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr19:36391600-36394400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:36391600-36394400	Weak transcription	Gastric	stomach
6	chr19:36391600-36394400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr19:36391600-36394400	Enhancers	HMEC	breast
8	chr19:36391600-36394600	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr19:36391600-36395000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr19:36391600-36395000	Flanking Active TSS	Fetal Thymus	thymus
11	chr19:36391600-36395000	Enhancers	Spleen	Spleen
12	chr19:36391600-36397400	Weak transcription	Stomach Mucosa	stomach
13	chr19:36391800-36393600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr19:36391800-36393600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr19:36391800-36393800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr19:36391800-36394000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr19:36391800-36394000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr19:36391800-36394200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr19:36391800-36394200	Enhancers	K562	blood
20	chr19:36391800-36394200	Enhancers	NHEK	skin
21	chr19:36391800-36394400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr19:36391800-36395000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr19:36391800-36395000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr19:36391800-36395200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr19:36391800-36395200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr19:36391800-36395200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr19:36391800-36395200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr19:36391800-36395200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr19:36391800-36396000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr19:36391800-36396000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:36391800-36396400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr19:36392000-36393600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr19:36392000-36393600	Enhancers	Placenta Amnion	Placenta Amnion
34	chr19:36392000-36394000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr19:36392000-36394000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr19:36392000-36394200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr19:36392000-36394200	Enhancers	H9 Cell Line	embryonic stem cell
38	chr19:36392000-36394200	Weak transcription	Fetal Kidney	kidney
39	chr19:36392000-36394400	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr19:36392000-36394400	Enhancers	NH-A	brain
41	chr19:36392000-36394400	Enhancers	NHLF	lung
42	chr19:36392000-36394800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr19:36392000-36394800	Enhancers	NHDF-Ad	bronchial
44	chr19:36392000-36395200	Flanking Active TSS	GM12878-XiMat	blood
45	chr19:36392000-36398000	Weak transcription	Brain Angular Gyrus	brain
46	chr19:36392200-36393600	Enhancers	Hela-S3	cervix
47	chr19:36392200-36393600	Enhancers	HSMMtube	muscle
48	chr19:36392200-36394200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:36392200-36394200	Enhancers	A549	lung
50	chr19:36392200-36397400	Weak transcription	Colon Smooth Muscle	Colon

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