Variant report

Variant	rs12417236
Chromosome Location	chr11:101995006-101995007
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:101980088..101982461-chr11:101993738..101996664,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137693	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12420608	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097445	1.00[EUR][1000 genomes]
rs1942681	1.00[EUR][1000 genomes]
rs4754040	1.00[EUR][1000 genomes]
rs4754832	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57102842	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58421489	1.00[EUR][1000 genomes]
rs58715614	1.00[EUR][1000 genomes]
rs59739003	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73577816	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73577857	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73577867	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73577889	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73577900	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73579981	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73582014	1.00[EUR][1000 genomes]
rs948736	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs974830	0.84[AMR][1000 genomes];1.00[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	esv3362945	chr11:101736547-102114246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv898333	chr11:101832670-102079986	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101983400-101998200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:101983600-101998000	Weak transcription	Right Ventricle	heart
3	chr11:101983600-101998200	Weak transcription	Colonic Mucosa	Colon
4	chr11:101983600-102014800	Weak transcription	Pancreas	Pancrea
5	chr11:101985200-101998000	Weak transcription	Gastric	stomach
6	chr11:101985200-102009200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:101986800-101995400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:101986800-101995600	Weak transcription	Right Atrium	heart
9	chr11:101987400-101996600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:101988800-102009000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:101988800-102009600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:101989600-102015200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:101990000-101995400	Weak transcription	Aorta	Aorta
14	chr11:101990000-101995400	Weak transcription	Esophagus	oesophagus
15	chr11:101990000-101995400	Weak transcription	Left Ventricle	heart
16	chr11:101990000-101995800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:101991000-102009000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:101991000-102010000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:101991400-101995400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:101991400-101996600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:101991400-101997200	Weak transcription	Liver	Liver
22	chr11:101991400-101998000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:101991600-101995400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:101991600-101996200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:101991600-102002200	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:101991600-102006000	Weak transcription	NHLF	lung
27	chr11:101991600-102008800	Weak transcription	HSMMtube	muscle
28	chr11:101991600-102012400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:101991600-102015200	Weak transcription	Fetal Kidney	kidney
30	chr11:101991600-102015600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:101991800-101996400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr11:101991800-101996600	Weak transcription	Fetal Heart	heart
33	chr11:101991800-102001000	Weak transcription	HSMM	muscle
34	chr11:101991800-102001400	Strong transcription	Fetal Stomach	stomach
35	chr11:101992000-101995400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr11:101992000-101996600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:101992000-101996800	Weak transcription	NH-A	brain
38	chr11:101992000-101999600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:101992200-101995200	Weak transcription	HepG2	liver
40	chr11:101992400-101995400	Weak transcription	HMEC	breast
41	chr11:101992400-101995800	Strong transcription	Fetal Lung	lung
42	chr11:101992400-101997600	Weak transcription	Adipose Nuclei	Adipose
43	chr11:101992600-101995200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:101992600-101995400	Weak transcription	Osteobl	bone
45	chr11:101992600-101995600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:101992600-102003600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:101992800-101995200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:101992800-101998800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:101992800-102008800	Weak transcription	NHDF-Ad	bronchial
50	chr11:101993000-101995400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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