Variant report

Variant	rs11042443
Chromosome Location	chr11:9623652-9623653
allele	C/T
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	MTA3	chr11:9621998-9623685	GM12878	blood:	n/a	n/a
3	RUNX3	chr11:9622637-9623852	GM12878	blood:	n/a	chr11:9623174-9623183 chr11:9623168-9623183 chr11:9623174-9623183
4	CEBPB	chr11:9622689-9623714	GM12878	blood:	n/a	n/a
5	RUNX3	chr11:9622168-9623743	GM12878	blood:	n/a	chr11:9623174-9623183 chr11:9623168-9623183 chr11:9623174-9623183
6	NFIC	chr11:9622711-9623672	GM12878	blood:	n/a	n/a
7	PAX5	chr11:9622797-9623695	GM12878	blood:	n/a	n/a
8	POU2F2	chr11:9622569-9623677	GM12891	blood:	n/a	chr11:9623093-9623114 chr11:9623097-9623112 chr11:9623098-9623111
9	BCLAF1	chr11:9622788-9623746	GM12878	blood:	n/a	chr11:9623154-9623163
10	ATF2	chr11:9622756-9623661	GM12878	blood:	n/a	n/a
11	NFIC	chr11:9622172-9623820	GM12878	blood:	n/a	chr11:9622702-9622719
12	STAT5A	chr11:9622745-9623674	GM12878	blood:	n/a	n/a
13	FOXM1	chr11:9622695-9623657	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: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11042436	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11042438	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11042439	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11042440	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11042441	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11042442	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11042444	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35084800	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36084509	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7120616	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7123263	0.88[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:64 , 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	chr11:9621800-9624200	Flanking Active TSS	GM12878-XiMat	blood
5	chr11:9622000-9624000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr11:9622200-9624200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:9622200-9624200	Enhancers	NHLF	lung
8	chr11:9622200-9624400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr11:9622200-9624400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:9622400-9624200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr11:9622600-9624200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr11:9622600-9624400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr11:9622600-9624400	Enhancers	Fetal Muscle Trunk	muscle
14	chr11:9622800-9623800	Enhancers	Fetal Heart	heart
15	chr11:9622800-9624200	Enhancers	Right Ventricle	heart
16	chr11:9623000-9624200	Enhancers	Fetal Muscle Leg	muscle
17	chr11:9623000-9624200	Enhancers	HSMMtube	muscle
18	chr11:9623200-9624200	Enhancers	Primary hematopoietic stem cells	blood
19	chr11:9623200-9628200	Weak transcription	Fetal Intestine Large	intestine
20	chr11:9623400-9623800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr11:9623400-9624000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr11:9623400-9624000	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr11:9623400-9624000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr11:9623400-9624200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr11:9623400-9624200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr11:9623400-9624200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr11:9623400-9624200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:9623400-9624200	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr11:9623400-9624400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr11:9623400-9624600	Enhancers	Primary T cells fromperipheralblood	blood
31	chr11:9623400-9625600	Weak transcription	K562	blood
32	chr11:9623400-9627600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:9623400-9628400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr11:9623400-9628600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:9623400-9631600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:9623400-9634600	Weak transcription	Thymus	Thymus
37	chr11:9623600-9623800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:9623600-9623800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr11:9623600-9623800	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr11:9623600-9624000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:9623600-9624000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr11:9623600-9624400	Enhancers	Primary B cells from cord blood	blood
43	chr11:9623600-9624400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:9623600-9624400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:9623600-9624600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr11:9623600-9624600	Enhancers	Dnd41	blood
47	chr11:9623600-9625200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:9623600-9625200	Weak transcription	HepG2	liver
49	chr11:9623600-9625400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:9623600-9625400	Weak transcription	NH-A	brain

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