Variant report

Variant	rs11111931
Chromosome Location	chr12:104611520-104611521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104609767..104612445-chr12:104684528..104686596,2	K562	blood:
2	chr12:104601466..104604369-chr12:104609753..104612151,2	K562	blood:
3	chr12:104609968..104613463-chr12:104614519..104618118,3	K562	blood:
4	chr12:104609776..104613159-chr12:104643212..104646798,4	K562	blood:
5	chr12:104606650..104616346-chr12:104679108..104687347,18	K562	blood:

Variant related genes	Relation type
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10400561	0.83[AFR][1000 genomes]
rs11111946	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs12296767	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12308914	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12310731	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12311576	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12314235	0.86[EUR][1000 genomes]
rs12322184	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12322245	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17035297	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57554346	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59871203	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61524019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73392581	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73392582	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73392588	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73392593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73394507	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73394524	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73394536	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045725	chr12:104524153-104614108	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	nsv541586	chr12:104524153-104614108	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
3	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a
4	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104609800-104612200	Weak transcription	NHDF-Ad	bronchial
2	chr12:104610000-104612800	Weak transcription	Esophagus	oesophagus
3	chr12:104610000-104612800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:104610000-104613000	Weak transcription	HepG2	liver
5	chr12:104610000-104613200	Weak transcription	Fetal Kidney	kidney
6	chr12:104610000-104613600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:104610200-104611800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:104610200-104612200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:104610200-104612200	Weak transcription	HSMMtube	muscle
10	chr12:104610200-104612400	Weak transcription	HSMM	muscle
11	chr12:104610200-104612600	Weak transcription	Lung	lung
12	chr12:104610200-104612800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:104610200-104612800	Weak transcription	Pancreas	Pancrea
14	chr12:104610200-104612800	Weak transcription	Small Intestine	intestine
15	chr12:104610200-104612800	Weak transcription	K562	blood
16	chr12:104610200-104612800	Weak transcription	NH-A	brain
17	chr12:104610200-104613000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr12:104610200-104613200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:104610200-104613600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:104610200-104613800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:104610200-104614800	Weak transcription	Gastric	stomach
22	chr12:104610400-104611800	Weak transcription	Left Ventricle	heart
23	chr12:104610400-104612000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:104610400-104612000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:104610400-104612000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:104610400-104612000	Weak transcription	NHLF	lung
27	chr12:104610400-104612200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:104610400-104612200	Weak transcription	HMEC	breast
29	chr12:104610400-104612400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:104610400-104612600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr12:104610400-104612800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:104610400-104612800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr12:104610400-104612800	Weak transcription	Brain Substantia Nigra	brain
34	chr12:104610400-104612800	Weak transcription	Colon Smooth Muscle	Colon
35	chr12:104610400-104612800	Weak transcription	Fetal Heart	heart
36	chr12:104610400-104612800	Weak transcription	Osteobl	bone
37	chr12:104610400-104613000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:104610400-104613000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:104610400-104613000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:104610400-104613000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:104610400-104613000	Weak transcription	Fetal Lung	lung
42	chr12:104610400-104613000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr12:104610400-104613000	Weak transcription	Stomach Mucosa	stomach
44	chr12:104610400-104613200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:104610400-104613200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:104610400-104613200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr12:104610400-104613200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:104610400-104613200	Weak transcription	Adipose Nuclei	Adipose
49	chr12:104610400-104613200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr12:104610400-104613400	Weak transcription	Primary hematopoietic stem cells	blood

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