Variant report

Variant	rs12924886
Chromosome Location	chr16:72075593-72075594
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72073969..72076892-chr16:72128013..72130377,2	K562	blood:

Variant related genes	Relation type
ENSG00000140830	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1050362	0.88[ASN][1000 genomes]
rs11648003	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12325142	0.85[ASN][1000 genomes]
rs12445401	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12445586	0.88[ASN][1000 genomes]
rs12708926	0.88[ASN][1000 genomes]
rs12708927	0.88[ASN][1000 genomes]
rs12708928	0.85[ASN][1000 genomes]
rs2000999	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2072142	0.86[ASN][1000 genomes]
rs2074626	0.85[ASN][1000 genomes]
rs2074627	0.85[ASN][1000 genomes]
rs2240243	0.85[ASN][1000 genomes]
rs2241412	0.85[ASN][1000 genomes]
rs2287997	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2854956	0.88[ASN][1000 genomes]
rs34042070	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3764312	0.88[ASN][1000 genomes]
rs3794695	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5472	0.91[ASN][1000 genomes]
rs6416742	0.85[ASN][1000 genomes]
rs6499559	0.86[ASN][1000 genomes]
rs6499560	0.83[ASN][1000 genomes]
rs6680	0.85[ASN][1000 genomes]
rs7190995	0.88[ASN][1000 genomes]
rs7191127	0.88[ASN][1000 genomes]
rs7192730	0.88[ASN][1000 genomes]
rs7197453	0.98[ASN][1000 genomes]
rs7197869	0.98[ASN][1000 genomes]
rs8047377	0.85[ASN][1000 genomes]
rs8051882	0.85[ASN][1000 genomes]
rs8058609	0.85[ASN][1000 genomes]
rs8059378	0.87[ASN][1000 genomes]
rs8062041	0.92[ASN][1000 genomes]
rs9925763	0.85[ASN][1000 genomes]
rs9926156	0.85[ASN][1000 genomes]
rs9941087	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12924886	HPR	cis	Whole Blood	GTEx

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72051400-72078600	Weak transcription	Fetal Kidney	kidney
2	chr16:72058200-72076000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr16:72058200-72076000	Weak transcription	HSMMtube	muscle
4	chr16:72058200-72077000	Weak transcription	Colonic Mucosa	Colon
5	chr16:72058200-72078000	Weak transcription	Fetal Lung	lung
6	chr16:72059600-72084600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:72060000-72079200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr16:72060200-72075600	Weak transcription	Lung	lung
9	chr16:72060200-72075600	Weak transcription	Pancreas	Pancrea
10	chr16:72060200-72075800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr16:72060200-72075800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr16:72060200-72076200	Weak transcription	Brain Angular Gyrus	brain
13	chr16:72060200-72076200	Weak transcription	Placenta	Placenta
14	chr16:72060200-72076400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr16:72060200-72080000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:72060200-72095600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr16:72060200-72110600	Weak transcription	Esophagus	oesophagus
18	chr16:72060600-72075800	Weak transcription	Brain Germinal Matrix	brain
19	chr16:72061600-72075800	Weak transcription	Brain Anterior Caudate	brain
20	chr16:72061600-72076200	Weak transcription	Fetal Intestine Small	intestine
21	chr16:72062000-72076000	Weak transcription	Colon Smooth Muscle	Colon
22	chr16:72062000-72076000	Weak transcription	Thymus	Thymus
23	chr16:72062200-72075600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr16:72062200-72079600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr16:72062200-72080000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr16:72062400-72075800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr16:72062400-72075800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr16:72062400-72076000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr16:72062400-72076000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr16:72062400-72076000	Weak transcription	Spleen	Spleen
31	chr16:72062400-72076800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr16:72062400-72078000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr16:72062600-72075600	Weak transcription	Aorta	Aorta
34	chr16:72062600-72075600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr16:72062600-72075800	Weak transcription	Primary B cells from cord blood	blood
36	chr16:72062600-72075800	Weak transcription	Fetal Brain Female	brain
37	chr16:72062600-72076000	Weak transcription	Adipose Nuclei	Adipose
38	chr16:72062600-72079800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr16:72062800-72076200	Weak transcription	Gastric	stomach
40	chr16:72063800-72079800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr16:72064000-72075600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr16:72064000-72075800	Weak transcription	Primary T cells from cord blood	blood
43	chr16:72064000-72076000	Weak transcription	Right Ventricle	heart
44	chr16:72064200-72076000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr16:72064200-72076000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr16:72064200-72076200	Weak transcription	Fetal Stomach	stomach
47	chr16:72064400-72076200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr16:72065200-72075600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr16:72070200-72075600	Weak transcription	HepG2	liver
50	chr16:72070200-72076000	Weak transcription	Fetal Muscle Leg	muscle

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