Variant report

Variant	rs4548609
Chromosome Location	chr11:8009711-8009712
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	MXI1	chr11:8008176-8009977	SK-N-SH	brain:	n/a	n/a
2	SIN3A	chr11:8008375-8009842	H1-hESC	embryonic stem cell:	n/a	chr11:8008813-8008822
3	POLR2A	chr11:8008391-8009874	PANC-1	pancreas:	n/a	n/a
4	WRNIP1	chr11:8009464-8009824	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8008975..8010895-chr11:8012887..8014632,2	K562	blood:
2	chr11:8008425..8011151-chr11:8011381..8013712,2	MCF-7	breast:

Variant related genes	Relation type
EIF3F	TF binding region
ENSG00000175390	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11041703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11041704	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11041705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417944	1.00[ASN][1000 genomes]
rs12420107	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12421289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1397596	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4758263	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs56071931	1.00[ASN][1000 genomes]
rs56391804	1.00[ASN][1000 genomes]
rs56392532	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57424199	1.00[ASN][1000 genomes]
rs61879577	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66473380	1.00[ASN][1000 genomes]
rs67181930	1.00[ASN][1000 genomes]
rs67238148	1.00[ASN][1000 genomes]
rs67876487	1.00[ASN][1000 genomes]
rs73412938	1.00[ASN][1000 genomes]
rs73412945	1.00[ASN][1000 genomes]
rs73412998	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951923	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv975248	chr11:8008767-8009772	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8008000-8009800	Active TSS	A549	lung
2	chr11:8008000-8010000	Active TSS	Right Atrium	heart
3	chr11:8008000-8010400	Active TSS	Psoas Muscle	Psoas
4	chr11:8008200-8009800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr11:8008200-8009800	Active TSS	H1 Cell Line	embryonic stem cell
6	chr11:8008200-8009800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:8008200-8009800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr11:8008200-8009800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:8008200-8010000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:8008200-8010000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:8008200-8010000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:8008200-8010000	Active TSS	Aorta	Aorta
13	chr11:8008200-8010000	Active TSS	Lung	lung
14	chr11:8008200-8010200	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr11:8008200-8010200	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr11:8008200-8010200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:8008400-8009800	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr11:8008400-8009800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:8008400-8009800	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr11:8008400-8009800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:8008400-8009800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:8008400-8009800	Active TSS	NHDF-Ad	bronchial
23	chr11:8008400-8010000	Active TSS	HSMM	muscle
24	chr11:8008400-8010200	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr11:8008600-8009800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:8008600-8009800	Active TSS	Muscle Satellite Cultured Cells	--
27	chr11:8008600-8009800	Active TSS	Fetal Intestine Large	intestine
28	chr11:8008600-8009800	Active TSS	Fetal Intestine Small	intestine
29	chr11:8008600-8009800	Active TSS	Fetal Muscle Trunk	muscle
30	chr11:8008600-8010400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:8008600-8010400	Active TSS	NHLF	lung
32	chr11:8009200-8009800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr11:8009200-8009800	Bivalent/Poised TSS	HepG2	liver
34	chr11:8009200-8010000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr11:8009200-8010000	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr11:8009200-8010000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr11:8009200-8010000	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr11:8009200-8010000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr11:8009200-8010000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr11:8009200-8010200	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr11:8009400-8009800	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chr11:8009400-8009800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:8009400-8009800	Flanking Active TSS	Fetal Brain Female	brain
44	chr11:8009400-8009800	Flanking Active TSS	Placenta	Placenta
45	chr11:8009400-8009800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr11:8009400-8010000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:8009400-8010000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:8009400-8010000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr11:8009400-8010000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:8009400-8010000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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