Variant report

Variant	rs12421142
Chromosome Location	chr11:120039274-120039275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120038992..120040633-chr11:120083752..120086483,2	K562	blood:
2	chr11:120036264..120041871-chr11:120106231..120109757,9	K562	blood:
3	chr11:119999095..120001127-chr11:120038214..120040210,2	MCF-7	breast:
4	chr11:120037531..120041521-chr11:120105416..120108760,8	K562	blood:
5	chr11:119990371..119993698-chr11:120037887..120041016,6	MCF-7	breast:
6	chr11:120038506..120040920-chr11:120082703..120085252,3	K562	blood:

Variant related genes	Relation type
ENSG00000184232	Chromatin interaction
ENSG00000137709	Chromatin interaction
ENSG00000137699	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11217755	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12418601	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12419025	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2848728	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35650539	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4938788	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4938789	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4938791	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs547124	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs582071	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs604413	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61900474	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61900479	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs620602	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs626151	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs657898	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs659912	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs666432	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs673292	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs675647	0.89[EUR][1000 genomes]
rs7949789	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription 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 miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120031800-120039400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:120038600-120039400	Enhancers	Esophagus	oesophagus
3	chr11:120038600-120039400	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr11:120038600-120039400	Enhancers	Pancreas	Pancrea
5	chr11:120038800-120039400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:120038800-120039400	Bivalent Enhancer	Fetal Stomach	stomach
7	chr11:120038800-120039600	Enhancers	Gastric	stomach
8	chr11:120039000-120039400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:120039000-120039400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr11:120039000-120039400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
11	chr11:120039000-120039400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:120039000-120039400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:120039000-120039400	Bivalent Enhancer	Colon Smooth Muscle	Colon
14	chr11:120039000-120039400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
15	chr11:120039000-120039400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr11:120039000-120039400	Bivalent Enhancer	Fetal Intestine Large	intestine
17	chr11:120039000-120039400	Bivalent Enhancer	Fetal Intestine Small	intestine
18	chr11:120039000-120039400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr11:120039000-120039400	Bivalent Enhancer	Placenta	Placenta
20	chr11:120039000-120039400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
21	chr11:120039000-120039400	Bivalent Enhancer	HepG2	liver
22	chr11:120039000-120039400	Bivalent Enhancer	NHEK	skin
23	chr11:120039000-120039400	Bivalent Enhancer	NHLF	lung
24	chr11:120039000-120039600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
25	chr11:120039000-120039600	Bivalent Enhancer	Fetal Brain Male	brain
26	chr11:120039000-120039600	Enhancers	Lung	lung
27	chr11:120039000-120039600	Bivalent Enhancer	Stomach Mucosa	stomach
28	chr11:120039200-120039400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
29	chr11:120039200-120039400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr11:120039200-120039400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:120039200-120039400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:120039200-120039400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr11:120039200-120039400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr11:120039200-120039400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
35	chr11:120039200-120039400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
36	chr11:120039200-120039400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
37	chr11:120039200-120039400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:120039200-120039400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr11:120039200-120039400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:120039200-120039400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:120039200-120039400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:120039200-120039400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:120039200-120039400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
44	chr11:120039200-120039400	Bivalent Enhancer	Brain Germinal Matrix	brain
45	chr11:120039200-120039400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
46	chr11:120039200-120039400	Enhancers	Brain Substantia Nigra	brain
47	chr11:120039200-120039400	Bivalent Enhancer	Colonic Mucosa	Colon
48	chr11:120039200-120039400	Bivalent Enhancer	Left Ventricle	heart
49	chr11:120039200-120039400	Enhancers	Ovary	ovary
50	chr11:120039200-120039400	Enhancers	Placenta Amnion	Placenta Amnion

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