Variant report

Variant	rs2279130
Chromosome Location	chr11:74977185-74977186
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74971389..74975056-chr11:74976181..74978822,5	K562	blood:
2	chr11:74971021..74973515-chr11:74976584..74978176,2	MCF-7	breast:
3	chr11:74967299..74970625-chr11:74975649..74978053,4	K562	blood:

Variant related genes	Relation type
ENSG00000254429	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1320709	0.89[CEU][hapmap]
rs1676884	0.89[CEU][hapmap]
rs1676886	0.85[CEU][hapmap]
rs1676890	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17133818	0.89[CHB][hapmap]
rs17133844	0.83[CHB][hapmap]
rs17133848	0.83[CHB][hapmap]
rs1783471	0.81[ASN][1000 genomes]
rs17883451	1.00[ASW][hapmap]
rs1789681	0.89[CEU][hapmap]
rs1789687	0.89[CEU][hapmap]
rs2035208	0.83[CHB][hapmap]
rs2276310	0.82[JPT][hapmap]
rs2279129	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2282600	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2510656	0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs35786880	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3781727	0.88[CHB][hapmap]
rs3932962	0.94[ASN][1000 genomes]
rs7951787	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049887	chr11:74937977-75040438	Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1036292	chr11:74937977-75059496	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
3	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
4	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74970800-74988200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:74971400-74977800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr11:74971800-74977600	Enhancers	Primary B cells from peripheral blood	blood
4	chr11:74971800-74978200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:74972000-74977200	Enhancers	Primary B cells from cord blood	blood
6	chr11:74972200-74978200	Weak transcription	Colonic Mucosa	Colon
7	chr11:74972200-74984600	Weak transcription	Thymus	Thymus
8	chr11:74972400-75004400	Weak transcription	Fetal Brain Male	brain
9	chr11:74972600-74977200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:74972600-74979000	Weak transcription	Brain Hippocampus Middle	brain
11	chr11:74972600-74980600	Weak transcription	Brain Angular Gyrus	brain
12	chr11:74972600-74984600	Weak transcription	Fetal Thymus	thymus
13	chr11:74972800-74977600	Weak transcription	Brain Substantia Nigra	brain
14	chr11:74972800-74987200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr11:74972800-74991400	Weak transcription	Right Atrium	heart
16	chr11:74973200-74980800	Weak transcription	HSMMtube	muscle
17	chr11:74974000-74985000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:74974200-74977400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:74974600-74978000	Weak transcription	Left Ventricle	heart
20	chr11:74974600-74978400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr11:74974800-74977600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:74975000-74977600	Weak transcription	K562	blood
23	chr11:74975000-74980800	Strong transcription	Fetal Brain Female	brain
24	chr11:74975000-74983600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:74975000-74986800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:74975000-74987600	Weak transcription	Small Intestine	intestine
27	chr11:74975200-74986600	Strong transcription	Fetal Intestine Small	intestine
28	chr11:74975200-74988200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:74975200-74988400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr11:74975200-74991200	Strong transcription	Fetal Stomach	stomach
31	chr11:74975400-74977200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:74975600-74977800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:74975600-74982000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:74975600-74982800	Strong transcription	Primary T cells from cord blood	blood
35	chr11:74975600-74984200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:74975600-74985400	Strong transcription	Fetal Intestine Large	intestine
37	chr11:74975600-74987400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:74975600-74988800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:74975600-74991400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:74975600-74999000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:74975800-74982000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr11:74975800-74982000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr11:74975800-74982000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr11:74975800-74983400	Weak transcription	HUVEC	blood vessel
45	chr11:74975800-74991200	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:74976000-74977200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr11:74976000-74977600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:74976000-74978000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr11:74976000-74978200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:74976000-74978600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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