Variant report

Variant	rs11042442
Chromosome Location	chr11:9623512-9623513
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	PML	chr11:9622611-9623654	GM12878	blood:	n/a	n/a
2	BCL11A	chr11:9622900-9623585	GM12878	blood:	n/a	chr11:9623154-9623163
3	MTA3	chr11:9621998-9623685	GM12878	blood:	n/a	n/a
4	BATF	chr11:9622909-9623535	GM12878	blood:	n/a	n/a
5	MTA3	chr11:9622623-9623636	GM12878	blood:	n/a	n/a
6	RUNX3	chr11:9622637-9623852	GM12878	blood:	n/a	chr11:9623174-9623183 chr11:9623168-9623183 chr11:9623174-9623183
7	MEF2A	chr11:9622827-9623590	GM12878	blood:	n/a	chr11:9622862-9622870
8	NFATC1	chr11:9622806-9623649	GM12878	blood:	n/a	n/a
9	MXI1	chr11:9622957-9623544	GM12878	blood:	n/a	chr11:9623527-9623536 chr11:9623529-9623538
10	POU2F2	chr11:9622727-9623591	GM12891	blood:	n/a	chr11:9623093-9623114 chr11:9623097-9623112 chr11:9623098-9623111
11	CHD1	chr11:9622826-9623584	GM12878	blood:	n/a	n/a
12	RELA	chr11:9622172-9623609	GM18951	blood:	n/a	n/a
13	STAT5A	chr11:9622732-9623644	GM12878	blood:	n/a	n/a
14	BCL3	chr11:9622952-9623553	GM12878	blood:	n/a	chr11:9623154-9623163
15	CEBPB	chr11:9622689-9623714	GM12878	blood:	n/a	n/a
16	ELF1	chr11:9622615-9623596	GM12878	blood:	n/a	chr11:9623059-9623072
17	MAZ	chr11:9622894-9623580	GM12878	blood:	n/a	chr11:9623527-9623537 chr11:9623526-9623541
18	TBL1XR1	chr11:9622734-9623606	GM12878	blood:	n/a	n/a
19	RUNX3	chr11:9622168-9623743	GM12878	blood:	n/a	chr11:9623174-9623183 chr11:9623168-9623183 chr11:9623174-9623183
20	TCF3	chr11:9622226-9623567	GM12878	blood:	n/a	n/a
21	BCLAF1	chr11:9622707-9623588	GM12878	blood:	n/a	chr11:9623154-9623163
22	PAX5	chr11:9622722-9623541	GM12878	blood:	n/a	n/a
23	RELA	chr11:9622809-9623519	GM10847	blood:	n/a	n/a
24	POLR2A	chr11:9622048-9623561	GM12891	blood:	n/a	n/a
25	NFIC	chr11:9622711-9623672	GM12878	blood:	n/a	n/a
26	ZNF384	chr11:9623033-9623646	GM12878	blood:	n/a	n/a
27	POU2F2	chr11:9622612-9623640	GM12878	blood:	n/a	chr11:9623093-9623114 chr11:9623097-9623112 chr11:9623098-9623111
28	PAX5	chr11:9622797-9623695	GM12878	blood:	n/a	n/a
29	MAX	chr11:9622778-9623564	GM12878	blood:	n/a	chr11:9623527-9623537 chr11:9623526-9623541
30	POU2F2	chr11:9622569-9623677	GM12891	blood:	n/a	chr11:9623093-9623114 chr11:9623097-9623112 chr11:9623098-9623111
31	BCLAF1	chr11:9622788-9623746	GM12878	blood:	n/a	chr11:9623154-9623163
32	EBF1	chr11:9622711-9623635	GM12878	blood:	n/a	n/a
33	EBF1	chr11:9622272-9623558	GM12878	blood:	n/a	n/a
34	TCF3	chr11:9622813-9623534	GM12878	blood:	n/a	n/a
35	RELA	chr11:9622163-9623620	GM12891	blood:	n/a	n/a
36	PAX5	chr11:9622964-9623603	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:9621728-9623586	Raji	blood:	n/a	n/a
38	IKZF1	chr11:9622281-9623554	GM12878	blood:	n/a	n/a
39	IRF4	chr11:9622873-9623583	GM12878	blood:	n/a	n/a
40	EP300	chr11:9622946-9623632	GM12878	blood:	n/a	chr11:9623107-9623116 chr11:9623331-9623344
41	ATF2	chr11:9622756-9623661	GM12878	blood:	n/a	n/a
42	RELA	chr11:9622831-9623588	GM18505	blood:	n/a	n/a
43	RELA	chr11:9622120-9623612	GM15510	blood:	n/a	n/a
44	RELA	chr11:9622155-9623613	GM19099	blood:	n/a	n/a
45	POLR2A	chr11:9622496-9623598	GM12892	blood:	n/a	n/a
46	ATF2	chr11:9622888-9623547	GM12878	blood:	n/a	n/a
47	NFIC	chr11:9622172-9623820	GM12878	blood:	n/a	chr11:9622702-9622719
48	FOXM1	chr11:9622344-9623627	GM12878	blood:	n/a	n/a
49	EBF1	chr11:9622898-9623590	GM12878	blood:	n/a	n/a
50	BHLHE40	chr11:9622983-9623612	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:9622499..9625012-chr11:9634792..9636736,2	K562	blood:
2	chr11:9623421..9625304-chr11:9627485..9629414,2	K562	blood:
3	chr11:9616144..9619684-chr11:9621223..9625658,6	K562	blood:

Variant related genes	Relation type
ENSG00000243964	TF binding region
ENSG00000243964	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11042433	0.81[AMR][1000 genomes]
rs11042436	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11042438	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11042439	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11042440	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11042441	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11042443	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11042444	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12422111	0.81[AMR][1000 genomes]
rs35042828	0.81[AMR][1000 genomes]
rs35084800	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36084509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7120616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7123263	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9597200-9635000	Weak transcription	Pancreas	Pancrea
2	chr11:9610600-9627200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:9610600-9635000	Weak transcription	Aorta	Aorta
4	chr11:9621800-9623600	Enhancers	HMEC	breast
5	chr11:9621800-9624200	Flanking Active TSS	GM12878-XiMat	blood
6	chr11:9622000-9623600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:9622000-9623600	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr11:9622000-9623600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:9622000-9623600	Enhancers	Spleen	Spleen
10	chr11:9622000-9623600	Enhancers	NHDF-Ad	bronchial
11	chr11:9622000-9624000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr11:9622200-9623600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:9622200-9623600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:9622200-9623600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:9622200-9623600	Enhancers	Placenta	Placenta
16	chr11:9622200-9624200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:9622200-9624200	Enhancers	NHLF	lung
18	chr11:9622200-9624400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr11:9622200-9624400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:9622400-9623600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr11:9622400-9623600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:9622400-9623600	Flanking Active TSS	Dnd41	blood
23	chr11:9622400-9624200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr11:9622600-9623600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr11:9622600-9623600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr11:9622600-9623600	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr11:9622600-9623600	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr11:9622600-9623600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr11:9622600-9623600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:9622600-9623600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:9622600-9623600	Enhancers	Esophagus	oesophagus
32	chr11:9622600-9623600	Enhancers	Right Atrium	heart
33	chr11:9622600-9623600	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr11:9622600-9623600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr11:9622600-9623600	Enhancers	NH-A	brain
36	chr11:9622600-9623600	Enhancers	Osteobl	bone
37	chr11:9622600-9624200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr11:9622600-9624400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr11:9622600-9624400	Enhancers	Fetal Muscle Trunk	muscle
40	chr11:9622800-9623600	Enhancers	H9 Cell Line	embryonic stem cell
41	chr11:9622800-9623600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:9622800-9623600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:9622800-9623600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:9622800-9623600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:9622800-9623600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr11:9622800-9623600	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr11:9622800-9623600	Enhancers	Fetal Intestine Small	intestine
48	chr11:9622800-9623600	Enhancers	Left Ventricle	heart
49	chr11:9622800-9623600	Enhancers	NHEK	skin
50	chr11:9622800-9623800	Enhancers	Fetal Heart	heart

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