Variant report

Variant	rs12421331
Chromosome Location	chr11:120268610-120268611
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120207083..120208772-chr11:120268301..120270438,2	MCF-7	breast:
2	chr11:120267548..120269343-chr11:120272156..120273879,2	K562	blood:
3	chr11:120240885..120243216-chr11:120268365..120270613,2	MCF-7	breast:
4	chr11:120223412..120225236-chr11:120267280..120269601,2	K562	blood:

Variant related genes	Relation type
ENSG00000196914	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12417273	1.00[AMR][1000 genomes]
rs12418151	1.00[AMR][1000 genomes]
rs12418329	1.00[AMR][1000 genomes]
rs12418336	1.00[AMR][1000 genomes]
rs12418364	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12419091	1.00[AMR][1000 genomes]
rs12419759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12420409	1.00[AMR][1000 genomes]
rs12420968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12421291	1.00[AMR][1000 genomes]
rs12421477	1.00[AMR][1000 genomes]
rs4054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1050935	chr11:120224544-120276373	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1036694	chr11:120230243-120285603	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1037573	chr11:120230243-120286918	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1047982	chr11:120238962-120276373	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1050789	chr11:120238962-120286918	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1046430	chr11:120238962-120294026	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1043248	chr11:120238962-120299598	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1051672	chr11:120238962-120314178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1050709	chr11:120246224-120276373	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1051783	chr11:120246224-120314178	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120232000-120274800	Weak transcription	Ovary	ovary
2	chr11:120254600-120271000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:120261200-120271400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:120262400-120271600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:120262800-120270400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:120262800-120270400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:120263000-120268800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:120263000-120270200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr11:120263000-120271200	Weak transcription	Fetal Kidney	kidney
10	chr11:120263000-120271400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr11:120263000-120271400	Weak transcription	Fetal Muscle Leg	muscle
12	chr11:120263200-120270200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:120263400-120268800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:120263400-120268800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:120263600-120268800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:120263600-120268800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:120263600-120269000	Weak transcription	HSMMtube	muscle
18	chr11:120263600-120270200	Weak transcription	Adipose Nuclei	Adipose
19	chr11:120263600-120270200	Weak transcription	Brain Angular Gyrus	brain
20	chr11:120263600-120270200	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:120263600-120270200	Weak transcription	HMEC	breast
22	chr11:120263600-120271000	Weak transcription	Brain Hippocampus Middle	brain
23	chr11:120263600-120271400	Weak transcription	Small Intestine	intestine
24	chr11:120263600-120274600	Weak transcription	Right Ventricle	heart
25	chr11:120263800-120268800	Weak transcription	NHDF-Ad	bronchial
26	chr11:120263800-120269000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:120263800-120271200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:120263800-120271800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:120263800-120271800	Weak transcription	Brain Substantia Nigra	brain
30	chr11:120264400-120269000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:120264600-120270200	Weak transcription	Brain Anterior Caudate	brain
32	chr11:120265800-120295600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:120266200-120269200	Enhancers	Liver	Liver
34	chr11:120266600-120274000	Weak transcription	Left Ventricle	heart
35	chr11:120266800-120269000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:120266800-120271000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:120266800-120274000	Weak transcription	Gastric	stomach
38	chr11:120267000-120271200	Weak transcription	Psoas Muscle	Psoas
39	chr11:120267400-120268800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:120267600-120271200	Enhancers	HepG2	liver
41	chr11:120267600-120272600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr11:120267800-120271200	Enhancers	NH-A	brain
43	chr11:120267800-120274600	Weak transcription	Fetal Heart	heart
44	chr11:120268000-120269600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr11:120268000-120270800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr11:120268200-120269000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr11:120268200-120269400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr11:120268200-120270200	Weak transcription	GM12878-XiMat	blood
49	chr11:120268400-120268800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:120268400-120269400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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