Variant report

Variant	rs2282600
Chromosome Location	chr11:74975662-74975663
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74967299..74970625-chr11:74975649..74978053,4	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11823030	0.82[JPT][hapmap]
rs1320709	0.89[CEU][hapmap]
rs1621185	0.81[AFR][1000 genomes]
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]
rs17133838	0.86[JPT][hapmap]
rs17133841	0.85[CHD][hapmap];0.86[JPT][hapmap]
rs17133844	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs17133848	0.83[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap]
rs1789680	0.81[AFR][1000 genomes]
rs1789681	0.89[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs1789687	0.89[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs1789689	0.81[AFR][1000 genomes]
rs2035208	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs2279129	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2279130	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]
rs34559163	0.81[AFR][1000 genomes]
rs35786880	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3781727	0.88[CHB][hapmap]
rs3824904	0.86[JPT][hapmap]
rs3907207	0.85[JPT][hapmap]
rs3932962	0.84[ASN][1000 genomes]
rs5006027	0.87[JPT][hapmap]
rs56253315	0.83[ASN][1000 genomes]
rs7951787	0.83[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74969200-74976600	Weak transcription	Ovary	ovary
2	chr11:74969800-74976000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr11:74969800-74976000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr11:74969800-74976200	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr11:74970000-74976000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr11:74970600-74975800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:74970800-74975800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:74970800-74988200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:74971200-74975800	Enhancers	Adipose Nuclei	Adipose
10	chr11:74971200-74976200	Enhancers	Primary hematopoietic stem cells	blood
11	chr11:74971400-74977800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:74971600-74976000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr11:74971800-74976800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:74971800-74977600	Enhancers	Primary B cells from peripheral blood	blood
15	chr11:74971800-74978200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:74972000-74976600	Weak transcription	Fetal Muscle Leg	muscle
17	chr11:74972000-74977000	Weak transcription	Brain Anterior Caudate	brain
18	chr11:74972000-74977000	Weak transcription	Fetal Lung	lung
19	chr11:74972000-74977200	Enhancers	Primary B cells from cord blood	blood
20	chr11:74972200-74976800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr11:74972200-74978200	Weak transcription	Colonic Mucosa	Colon
22	chr11:74972200-74984600	Weak transcription	Thymus	Thymus
23	chr11:74972400-74976000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:74972400-75004400	Weak transcription	Fetal Brain Male	brain
25	chr11:74972600-74976000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr11:74972600-74976800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr11:74972600-74976800	Weak transcription	HepG2	liver
28	chr11:74972600-74977200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:74972600-74979000	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:74972600-74980600	Weak transcription	Brain Angular Gyrus	brain
31	chr11:74972600-74984600	Weak transcription	Fetal Thymus	thymus
32	chr11:74972800-74976000	Enhancers	Placenta	Placenta
33	chr11:74972800-74976200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr11:74972800-74976600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:74972800-74976600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:74972800-74976800	Weak transcription	Liver	Liver
37	chr11:74972800-74976800	Weak transcription	Colon Smooth Muscle	Colon
38	chr11:74972800-74976800	Weak transcription	Pancreas	Pancrea
39	chr11:74972800-74977600	Weak transcription	Brain Substantia Nigra	brain
40	chr11:74972800-74987200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:74972800-74991400	Weak transcription	Right Atrium	heart
42	chr11:74973200-74980800	Weak transcription	HSMMtube	muscle
43	chr11:74973400-74976200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr11:74973600-74976200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr11:74973800-74976000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:74974000-74985000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:74974200-74976600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:74974200-74977400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:74974400-74975800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:74974400-74976400	Weak transcription	Fetal Muscle Trunk	muscle

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