Variant report

Variant	rs11744096
Chromosome Location	chr5:177707274-177707275
allele	C/T
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:177706688..177707297-chr5:177977028..177977867,2	MCF-7	breast:
2	chr5:177707050..177707576-chr5:177733039..177733583,2	MCF-7	breast:
3	chr5:177706712..177707519-chr5:178016864..178017694,3	MCF-7	breast:
4	chr5:177706743..177707559-chr5:178017553..178018241,3	MCF-7	breast:
5	chr5:177705017..177707369-chr5:177709194..177712378,3	K562	blood:
6	chr5:177706996..177707580-chr5:177887844..177888573,2	K562	blood:
7	chr5:177706637..177707790-chr5:178017212..178018303,12	K562	blood:
8	chr5:177706757..177707961-chr5:178266041..178266913,4	MCF-7	breast:
9	chr5:177700241..177704563-chr5:177705321..177708218,5	MCF-7	breast:
10	chr5:177666998..177669633-chr5:177705585..177707860,2	MCF-7	breast:
11	chr5:177706698..177707593-chr5:177977751..177978699,5	MCF-7	breast:
12	chr5:177705531..177707369-chr5:177709194..177711179,2	K562	blood:
13	chr5:177706927..177707599-chr5:177977871..177978610,3	MCF-7	breast:
14	chr5:177706663..177708953-chr5:178261165..178263624,2	MCF-7	breast:
15	chr5:177698904..177700407-chr5:177706155..177707702,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000050767	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10050487	1.00[CEU][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes]
rs11249797	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11742935	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57655833	0.85[EUR][1000 genomes]
rs6874193	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73338894	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7721938	1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7725951	0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
4	nsv482872	chr5:177580298-177744381	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	106 gene(s)	inside rSNPs	diseases
5	nsv1021981	chr5:177620372-177825272	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
6	nsv537967	chr5:177620372-177825272	Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
7	nsv1024689	chr5:177638936-177926244	Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv537968	chr5:177638936-177926244	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1018031	chr5:177655010-177746378	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	nsv537969	chr5:177655010-177746378	Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	nsv1025291	chr5:177657927-177756215	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	nsv537970	chr5:177657927-177756215	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	nsv883199	chr5:177661902-177717640	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	nsv883200	chr5:177665342-177717640	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
15	nsv883201	chr5:177665342-177746863	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
16	nsv883202	chr5:177669413-177715291	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
17	nsv600395	chr5:177675217-177707427	Enhancers Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
18	nsv462568	chr5:177679728-177707427	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
19	nsv600396	chr5:177679728-177707427	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
20	nsv984571	chr5:177681557-177710382	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
21	nsv883203	chr5:177682664-177766183	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
22	nsv883204	chr5:177684682-177744380	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
23	nsv883205	chr5:177684682-177777888	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
24	nsv883206	chr5:177684682-177796121	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
25	nsv883207	chr5:177692247-177744380	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
26	nsv883208	chr5:177692247-177757764	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
27	nsv1031926	chr5:177693601-177746378	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
28	nsv1027165	chr5:177693601-177843314	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177703600-177728800	Weak transcription	Right Atrium	heart
2	chr5:177705800-177707800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr5:177706000-177707400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:177706200-177708000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr5:177706800-177707400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:177706800-177707400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:177706800-177707400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:177706800-177707400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr5:177706800-177707400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr5:177706800-177707400	Enhancers	Primary B cells from peripheral blood	blood
11	chr5:177706800-177707400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
12	chr5:177706800-177707400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:177706800-177707400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr5:177706800-177707400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:177706800-177707400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:177706800-177707400	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr5:177706800-177707400	Enhancers	Brain Germinal Matrix	brain
18	chr5:177706800-177707400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:177706800-177707400	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr5:177706800-177707400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr5:177706800-177707400	Enhancers	Fetal Brain Male	brain
22	chr5:177706800-177707400	Enhancers	Fetal Thymus	thymus
23	chr5:177706800-177707400	Enhancers	Spleen	Spleen
24	chr5:177706800-177707400	Enhancers	K562	blood
25	chr5:177706800-177707600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr5:177706800-177707600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr5:177706800-177707600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:177706800-177707600	Enhancers	Brain Anterior Caudate	brain
29	chr5:177706800-177707600	Enhancers	Brain Hippocampus Middle	brain
30	chr5:177706800-177707600	Enhancers	Left Ventricle	heart
31	chr5:177706800-177707600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr5:177706800-177707600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
33	chr5:177706800-177707800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr5:177706800-177707800	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr5:177706800-177707800	Enhancers	Lung	lung
36	chr5:177706800-177707800	Enhancers	Right Ventricle	heart
37	chr5:177706800-177708000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:177706800-177708200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr5:177706800-177708200	Enhancers	Fetal Lung	lung
40	chr5:177706800-177708400	Enhancers	Fetal Heart	heart
41	chr5:177706800-177708600	Bivalent Enhancer	Fetal Stomach	stomach
42	chr5:177707000-177707400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr5:177707000-177707400	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr5:177707000-177707400	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr5:177707000-177707400	Enhancers	Ovary	ovary
46	chr5:177707000-177707400	Bivalent Enhancer	Stomach Mucosa	stomach
47	chr5:177707200-177707400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:177707200-177707400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
49	chr5:177707200-177707400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr5:177707200-177707400	Bivalent Enhancer	Fetal Intestine Small	intestine

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