Variant report

Variant	rs12284174
Chromosome Location	chr11:73033936-73033937
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73032576..73035606-chr11:73037625..73040949,4	K562	blood:
2	chr11:73033372..73035605-chr11:73043238..73045918,2	K562	blood:
3	chr11:73028376..73030954-chr11:73032698..73034270,2	K562	blood:
4	chr11:73032442..73034881-chr11:73042060..73045731,3	K562	blood:
5	chr11:73025076..73027780-chr11:73032690..73035517,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12280876	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12284575	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290082	0.91[AFR][1000 genomes]
rs12291164	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12293779	0.91[AFR][1000 genomes]
rs1938779	0.89[AFR][1000 genomes]
rs28719552	1.00[EUR][1000 genomes]
rs3933402	1.00[EUR][1000 genomes]
rs55664562	0.85[AFR][1000 genomes]
rs55851019	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56184513	0.89[AFR][1000 genomes]
rs56665358	0.89[AFR][1000 genomes]
rs56775065	0.91[AFR][1000 genomes]
rs58053874	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58460917	1.00[EUR][1000 genomes]
rs58995758	1.00[EUR][1000 genomes]
rs59268601	1.00[EUR][1000 genomes]
rs59804106	1.00[EUR][1000 genomes]
rs60206663	1.00[EUR][1000 genomes]
rs60610185	1.00[EUR][1000 genomes]
rs60779105	1.00[EUR][1000 genomes]
rs61086238	1.00[EUR][1000 genomes]
rs61122124	1.00[EUR][1000 genomes]
rs61400770	1.00[EUR][1000 genomes]
rs61654355	1.00[EUR][1000 genomes]
rs7111021	1.00[EUR][1000 genomes]
rs7119632	1.00[EUR][1000 genomes]
rs7119975	1.00[EUR][1000 genomes]
rs7122979	1.00[EUR][1000 genomes]
rs7123114	1.00[EUR][1000 genomes]
rs7123218	1.00[EUR][1000 genomes]
rs7127143	1.00[EUR][1000 genomes]
rs7127412	1.00[EUR][1000 genomes]
rs73542448	0.87[AFR][1000 genomes]
rs73542460	0.86[AFR][1000 genomes]
rs947836	1.00[EUR][1000 genomes]

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	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer 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	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv825993	chr11:73029209-73091929	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73024400-73037000	Enhancers	Placenta	Placenta
2	chr11:73024800-73037000	Genic enhancers	Fetal Intestine Small	intestine
3	chr11:73025400-73037200	Enhancers	Left Ventricle	heart
4	chr11:73025800-73038400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:73026000-73034400	Weak transcription	Hela-S3	cervix
6	chr11:73026400-73036800	Enhancers	Fetal Heart	heart
7	chr11:73026600-73039600	Genic enhancers	Fetal Stomach	stomach
8	chr11:73028400-73039000	Enhancers	Rectal Smooth Muscle	rectum
9	chr11:73028600-73037000	Enhancers	Right Ventricle	heart
10	chr11:73030400-73036200	Enhancers	Lung	lung
11	chr11:73030600-73037000	Enhancers	Ovary	ovary
12	chr11:73030800-73034400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:73030800-73034800	Enhancers	Adipose Nuclei	Adipose
14	chr11:73030800-73036800	Enhancers	Primary hematopoietic stem cells	blood
15	chr11:73030800-73037000	Enhancers	Esophagus	oesophagus
16	chr11:73030800-73039000	Enhancers	Fetal Lung	lung
17	chr11:73030800-73040000	Enhancers	Right Atrium	heart
18	chr11:73031000-73037200	Enhancers	Colonic Mucosa	Colon
19	chr11:73031200-73034200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:73031200-73035600	Enhancers	HMEC	breast
21	chr11:73031200-73037000	Enhancers	NHDF-Ad	bronchial
22	chr11:73031400-73034600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr11:73031400-73035200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr11:73031400-73036000	Enhancers	NH-A	brain
25	chr11:73031400-73036600	Enhancers	Fetal Muscle Trunk	muscle
26	chr11:73031600-73036600	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr11:73031800-73034200	Enhancers	Fetal Muscle Leg	muscle
28	chr11:73031800-73034400	Enhancers	Colon Smooth Muscle	Colon
29	chr11:73031800-73035600	Enhancers	HSMMtube	muscle
30	chr11:73031800-73035800	Enhancers	HUVEC	blood vessel
31	chr11:73031800-73036000	Enhancers	Brain Anterior Caudate	brain
32	chr11:73031800-73036400	Enhancers	Duodenum Mucosa	Duodenum
33	chr11:73031800-73036600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr11:73031800-73037000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr11:73031800-73037000	Enhancers	Spleen	Spleen
36	chr11:73031800-73038800	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr11:73031800-73042200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr11:73032000-73034000	Enhancers	Aorta	Aorta
39	chr11:73032000-73034400	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr11:73032000-73034400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:73032000-73034800	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr11:73032000-73035000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:73032000-73035000	Enhancers	Fetal Intestine Large	intestine
44	chr11:73032000-73036000	Enhancers	Brain Cingulate Gyrus	brain
45	chr11:73032000-73037400	Enhancers	Brain Hippocampus Middle	brain
46	chr11:73032200-73035600	Enhancers	Fetal Thymus	thymus
47	chr11:73032200-73036600	Enhancers	Fetal Kidney	kidney
48	chr11:73032200-73036800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:73032200-73036800	Enhancers	Stomach Mucosa	stomach
50	chr11:73032400-73034000	Enhancers	Primary B cells from peripheral blood	blood

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