Variant report

Variant	rs3094304
Chromosome Location	chr11:75118158-75118159
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75116817..75118910-chr11:75131557..75134243,2	K562	blood:
2	chr11:75116665..75120426-chr11:75160804..75164163,3	K562	blood:
3	chr11:75115990..75119066-chr11:75236154..75238810,3	K562	blood:
4	chr11:75116986..75119499-chr11:75235046..75238810,4	K562	blood:
5	chr11:75117419..75119045-chr11:75226562..75228650,2	K562	blood:
6	chr11:75116302..75120034-chr11:75143308..75145079,3	MCF-7	breast:
7	chr11:75053294..75054862-chr11:75117237..75118876,2	MCF-7	breast:
8	chr11:75040053..75042610-chr11:75118135..75119953,2	K562	blood:
9	chr11:75017821..75020179-chr11:75116182..75118879,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000158555	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11539810	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12272818	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12274033	0.90[JPT][hapmap]
rs12289289	0.89[GIH][hapmap];0.90[JPT][hapmap]
rs12290287	0.88[JPT][hapmap]
rs12292210	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293207	0.90[JPT][hapmap]
rs12789498	0.83[MKK][hapmap]
rs12795298	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12798081	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3094303	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133186	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3133187	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34503349	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34593568	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35378921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv1799276	chr11:75104200-75135434	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
4	nsv897921	chr11:75115893-75147661	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897922	chr11:75116733-75147661	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr11:75112400-75120200	Strong transcription	Stomach Smooth Muscle	stomach
2	chr11:75112600-75120000	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr11:75112800-75120200	Strong transcription	Brain Inferior Temporal Lobe	brain
4	chr11:75113000-75118200	Strong transcription	Aorta	Aorta
5	chr11:75113000-75118200	Strong transcription	Ovary	ovary
6	chr11:75113200-75118200	Strong transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:75113200-75118400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:75113200-75118400	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:75113200-75118400	Strong transcription	Colon Smooth Muscle	Colon
10	chr11:75113200-75120200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:75113200-75120200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:75113200-75120400	Strong transcription	Placenta	Placenta
13	chr11:75113400-75118200	Strong transcription	Left Ventricle	heart
14	chr11:75113400-75118400	Strong transcription	Lung	lung
15	chr11:75113400-75118600	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr11:75113400-75119600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:75113400-75120200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:75113400-75120200	Strong transcription	Primary B cells from cord blood	blood
19	chr11:75113400-75120200	Strong transcription	Fetal Muscle Trunk	muscle
20	chr11:75113400-75120200	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:75113600-75118400	Strong transcription	Fetal Kidney	kidney
22	chr11:75113600-75118400	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr11:75113600-75120000	Weak transcription	Right Atrium	heart
24	chr11:75113600-75120200	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr11:75113600-75120200	Strong transcription	Liver	Liver
26	chr11:75113600-75120200	Strong transcription	Fetal Stomach	stomach
27	chr11:75113600-75120200	Strong transcription	Thymus	Thymus
28	chr11:75113600-75120200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr11:75113800-75118200	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr11:75113800-75118400	Strong transcription	Adipose Nuclei	Adipose
31	chr11:75113800-75118600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:75113800-75119000	Strong transcription	Primary B cells from peripheral blood	blood
33	chr11:75114000-75118400	Strong transcription	Brain Germinal Matrix	brain
34	chr11:75114000-75119200	Strong transcription	Fetal Brain Female	brain
35	chr11:75114000-75119600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:75114000-75120000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
37	chr11:75114200-75118200	Strong transcription	Fetal Lung	lung
38	chr11:75114200-75118200	Genic enhancers	HUVEC	blood vessel
39	chr11:75114200-75120000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:75114200-75120000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr11:75114200-75120200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:75114200-75120200	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:75114200-75120200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr11:75114200-75120200	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:75114400-75118400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:75114400-75119200	Strong transcription	Fetal Muscle Leg	muscle
47	chr11:75114400-75119600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr11:75114400-75120000	Strong transcription	Primary hematopoietic stem cells	blood
49	chr11:75114400-75120000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:75114400-75120200	Strong transcription	HUES64 Cell Line	embryonic stem cell

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