Variant report

Variant	rs11954779
Chromosome Location	chr5:75633888-75633889
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:75633462..75634419-chr5:75839412..75840924,7	MCF-7	breast:
2	chr5:75633525..75634382-chr5:75698618..75699493,3	MCF-7	breast:
3	chr5:75633439..75636286-chr5:75698439..75700729,3	K562	blood:
4	chr5:75633449..75634035-chr5:75698567..75699502,2	MCF-7	breast:
5	chr5:75633417..75634381-chr5:75839891..75840630,3	MCF-7	breast:
6	chr5:75633886..75634436-chr5:75839825..75840735,2	K562	blood:
7	chr5:75633387..75634022-chr5:75937052..75937701,2	K562	blood:
8	chr5:75633485..75634409-chr5:75878986..75879511,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000145703	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11954110	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16873317	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16873320	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17566966	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55712299	0.87[AFR][1000 genomes]
rs59047714	0.82[AFR][1000 genomes]
rs60514411	0.85[AFR][1000 genomes]
rs60691295	0.87[AFR][1000 genomes]
rs73764325	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73764326	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73764327	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73764328	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73764330	0.87[AFR][1000 genomes]
rs73764331	0.87[AFR][1000 genomes]
rs73764332	0.87[AFR][1000 genomes]
rs73764346	0.87[AFR][1000 genomes]
rs73764347	0.87[AFR][1000 genomes]
rs73764349	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1032033	chr5:75609686-75646482	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1023310	chr5:75609686-75651786	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3425598	chr5:75610980-75647048	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2757120	chr5:75611597-75642974	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2759352	chr5:75611597-75642974	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1028669	chr5:75611597-75643598	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1020853	chr5:75611597-75651786	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv3362900	chr5:75631096-75637594	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11954779	IFI27	trans	lymphoblastoid	seeQTL

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75622800-75634000	Weak transcription	Esophagus	oesophagus
2	chr5:75629600-75637800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:75629800-75638000	Weak transcription	HepG2	liver
4	chr5:75632600-75634400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:75632800-75634400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:75633000-75634400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:75633200-75634200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr5:75633200-75634200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:75633200-75634400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:75633200-75634400	Enhancers	Primary hematopoietic stem cells	blood
11	chr5:75633200-75634400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:75633200-75634400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr5:75633400-75634000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:75633400-75634200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr5:75633400-75634200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr5:75633400-75634200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:75633400-75634200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:75633400-75634200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:75633400-75634200	Enhancers	Adipose Nuclei	Adipose
20	chr5:75633400-75634200	Enhancers	Fetal Muscle Leg	muscle
21	chr5:75633400-75634200	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr5:75633400-75634400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr5:75633400-75634400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:75633400-75634400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:75633400-75634400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr5:75633400-75634400	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr5:75633400-75634400	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr5:75633400-75634400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr5:75633400-75634400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr5:75633400-75634400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr5:75633400-75634400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr5:75633400-75634400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:75633400-75634400	Enhancers	Duodenum Mucosa	Duodenum
34	chr5:75633400-75634600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr5:75633400-75634600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr5:75633400-75634600	Enhancers	Stomach Mucosa	stomach
37	chr5:75633400-75634800	Enhancers	Primary T cells fromperipheralblood	blood
38	chr5:75633600-75634000	Enhancers	Fetal Muscle Trunk	muscle
39	chr5:75633600-75634200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:75633600-75634200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:75633600-75634200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:75633600-75634200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:75633600-75634200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:75633600-75634200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:75633600-75634200	Enhancers	Fetal Intestine Large	intestine
46	chr5:75633600-75634200	Enhancers	Fetal Stomach	stomach
47	chr5:75633600-75634200	Enhancers	Fetal Thymus	thymus
48	chr5:75633600-75634200	Enhancers	Gastric	stomach
49	chr5:75633600-75634200	Enhancers	Pancreas	Pancrea
50	chr5:75633600-75634400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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