Variant report

Variant	rs12795298
Chromosome Location	chr11:75129169-75129170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75118966..75120738-chr11:75128786..75133119,4	MCF-7	breast:
2	chr11:75122940..75124831-chr11:75127769..75129373,2	K562	blood:
3	chr11:75127472..75131513-chr11:75141648..75144922,3	K562	blood:
4	chr11:75122807..75124831-chr11:75127769..75130348,4	K562	blood:
5	chr11:75128783..75131051-chr11:75135705..75137919,2	K562	blood:

Variant related genes	Relation type
ENSG00000149243	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11539810	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12272818	0.82[EUR][1000 genomes]
rs12292210	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12798081	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3094303	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3094304	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3133186	0.84[EUR][1000 genomes]
rs3133187	0.84[EUR][1000 genomes]
rs34503349	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34593568	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35378921	0.84[EUR][1000 genomes];0.81[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	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv1799276	chr11:75104200-75135434	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
4	nsv897921	chr11:75115893-75147661	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897922	chr11:75116733-75147661	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
7	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75115600-75132200	Weak transcription	Fetal Brain Male	brain
2	chr11:75117000-75135200	Weak transcription	Right Ventricle	heart
3	chr11:75117400-75139000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr11:75118200-75129800	Weak transcription	Hela-S3	cervix
5	chr11:75118200-75139000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:75118200-75139600	Weak transcription	Small Intestine	intestine
7	chr11:75119400-75129200	Weak transcription	Stomach Mucosa	stomach
8	chr11:75119400-75139800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:75119600-75131400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:75120400-75134200	Weak transcription	Right Atrium	heart
11	chr11:75122200-75129800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:75122200-75130200	Strong transcription	Fetal Brain Female	brain
13	chr11:75122600-75129400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:75122600-75129400	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:75122600-75130600	Strong transcription	Fetal Intestine Small	intestine
16	chr11:75122800-75129400	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:75122800-75130000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:75122800-75130000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:75122800-75130200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:75122800-75132000	Strong transcription	Fetal Stomach	stomach
21	chr11:75122800-75134800	Strong transcription	Thymus	Thymus
22	chr11:75122800-75135600	Strong transcription	Primary T cells from cord blood	blood
23	chr11:75123400-75129400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:75123400-75138800	Weak transcription	Fetal Kidney	kidney
25	chr11:75123400-75140000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr11:75123600-75139000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr11:75125000-75129600	Weak transcription	NHDF-Ad	bronchial
28	chr11:75125200-75131000	Weak transcription	K562	blood
29	chr11:75125200-75131400	Weak transcription	Fetal Heart	heart
30	chr11:75125200-75132800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:75125200-75136200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:75125400-75131400	Weak transcription	Brain Substantia Nigra	brain
33	chr11:75125400-75132400	Weak transcription	Fetal Lung	lung
34	chr11:75125400-75133600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr11:75126200-75129800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr11:75126200-75131000	Weak transcription	Brain Hippocampus Middle	brain
37	chr11:75126200-75131000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr11:75126200-75131200	Weak transcription	Gastric	stomach
39	chr11:75126200-75131400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr11:75126200-75133000	Weak transcription	Adipose Nuclei	Adipose
41	chr11:75126200-75133600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr11:75126200-75133600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr11:75126200-75133800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr11:75126200-75139400	Weak transcription	Esophagus	oesophagus
45	chr11:75126400-75129200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:75126400-75129600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:75126400-75129800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr11:75126400-75129800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:75126400-75129800	Weak transcription	Spleen	Spleen
50	chr11:75126400-75130800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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