Variant report

Variant	rs11835054
Chromosome Location	chr12:56731055-56731056
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr12:56730096-56731108	K562	blood:	n/a	n/a
2	POLR2A	chr12:56730081-56731112	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56727184..56732099-chr12:56751309..56755132,9	K562	blood:
2	chr12:56692746..56696004-chr12:56729098..56732987,4	K562	blood:
3	chr12:56510218..56512246-chr12:56729778..56732037,2	K562	blood:
4	chr12:56703173..56705096-chr12:56729823..56731821,2	K562	blood:
5	chr12:56729889..56732164-chr12:56815272..56818052,2	K562	blood:
6	chr12:56709573..56711598-chr12:56730784..56732305,2	K562	blood:
7	chr12:56694315..56696135-chr12:56730935..56732987,2	K562	blood:

No data

Variant related genes	Relation type
PAN2	TF binding region
IL23A	TF binding region
ENSG00000229117	Chromatin interaction
ENSG00000170581	Chromatin interaction
ENSG00000257727	Chromatin interaction
ENSG00000111602	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000257303	Chromatin interaction
ENSG00000144785	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000062485	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11834038	1.00[AMR][1000 genomes]
rs1508211	1.00[AMR][1000 genomes]
rs2066812	1.00[AMR][1000 genomes]
rs2271195	1.00[AMR][1000 genomes]
rs35807059	1.00[AMR][1000 genomes]
rs55771348	1.00[AMR][1000 genomes]
rs56983027	1.00[AMR][1000 genomes]
rs60419159	1.00[AMR][1000 genomes]
rs61186183	1.00[AMR][1000 genomes]
rs61695444	1.00[AMR][1000 genomes]
rs73338396	1.00[AMR][1000 genomes]
rs73338402	1.00[AMR][1000 genomes]
rs74091499	1.00[AMR][1000 genomes]
rs74092004	1.00[AMR][1000 genomes]
rs74092007	1.00[AMR][1000 genomes]
rs74092015	1.00[AMR][1000 genomes]
rs74094517	1.00[AMR][1000 genomes]
rs74094520	1.00[AMR][1000 genomes]
rs74094521	1.00[AMR][1000 genomes]
rs74094522	1.00[AMR][1000 genomes]
rs74094539	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56728400-56731600	Weak transcription	Spleen	Spleen
2	chr12:56728400-56736400	Weak transcription	Ovary	ovary
3	chr12:56728400-56736400	Weak transcription	Small Intestine	intestine
4	chr12:56728600-56731600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr12:56728600-56731600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:56728600-56731600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:56728600-56731600	Weak transcription	Lung	lung
8	chr12:56728600-56731800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:56728600-56731800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:56728600-56732400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:56728600-56732400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:56728600-56732600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:56728600-56732600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:56728600-56732600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:56728600-56732600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:56728600-56732600	Weak transcription	NH-A	brain
17	chr12:56728600-56732800	Weak transcription	Esophagus	oesophagus
18	chr12:56728600-56733000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr12:56728600-56733200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:56728600-56733600	Weak transcription	Right Atrium	heart
21	chr12:56728600-56734000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr12:56728600-56734800	Weak transcription	Fetal Muscle Leg	muscle
23	chr12:56728600-56735000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:56728600-56735000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr12:56728600-56735200	Weak transcription	Fetal Stomach	stomach
26	chr12:56728600-56735200	Weak transcription	Left Ventricle	heart
27	chr12:56728600-56736400	Weak transcription	Fetal Brain Female	brain
28	chr12:56728600-56736400	Weak transcription	Fetal Kidney	kidney
29	chr12:56728600-56736400	Weak transcription	Gastric	stomach
30	chr12:56728600-56736400	Weak transcription	Pancreas	Pancrea
31	chr12:56728600-56736400	Weak transcription	NHLF	lung
32	chr12:56728600-56736600	Weak transcription	Aorta	Aorta
33	chr12:56728600-56736800	Weak transcription	Colonic Mucosa	Colon
34	chr12:56728600-56739600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr12:56728600-56748200	Weak transcription	Fetal Brain Male	brain
36	chr12:56728800-56731400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:56728800-56731400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:56728800-56731400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr12:56728800-56731400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr12:56728800-56731400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr12:56728800-56731400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:56728800-56731400	Weak transcription	Fetal Thymus	thymus
43	chr12:56728800-56731600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:56728800-56731600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:56728800-56731600	Weak transcription	Primary T cells from cord blood	blood
46	chr12:56728800-56731600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:56728800-56731600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr12:56728800-56731600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr12:56728800-56731600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr12:56728800-56731600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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