Variant report

Variant	rs11172377
Chromosome Location	chr12:58296498-58296499
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58257612..58259236-chr12:58293224..58296608,3	MCF-7	breast:
2	chr12:58228537..58230716-chr12:58295563..58297383,2	MCF-7	breast:
3	chr12:58239081..58242355-chr12:58294578..58298218,3	K562	blood:
4	chr12:58233748..58235747-chr12:58295225..58296779,2	MCF-7	breast:
5	chr12:58238316..58242683-chr12:58295473..58302602,14	MCF-7	breast:
6	chr12:58225549..58227455-chr12:58294861..58299199,3	MCF-7	breast:
7	chr12:58236196..58241196-chr12:58294118..58300852,8	MCF-7	breast:
8	chr12:58176424..58178042-chr12:58295203..58297300,2	MCF-7	breast:
9	chr12:58239569..58244482-chr12:58295741..58298218,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000123297	Chromatin interaction
ENSG00000175215	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11172376	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834260	1.00[ASN][1000 genomes]
rs12296922	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12309291	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322495	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12322586	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119981	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17119991	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34241380	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34372362	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35441007	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35985500	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61935768	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137226	1.00[GIH][hapmap]
rs7977734	1.00[GIH][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58292800-58298800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr12:58292800-58299000	Weak transcription	Fetal Kidney	kidney
3	chr12:58292800-58299000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:58293200-58296600	Weak transcription	Pancreas	Pancrea
5	chr12:58293200-58298000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:58293200-58298800	Weak transcription	Adipose Nuclei	Adipose
7	chr12:58293200-58298800	Weak transcription	Placenta	Placenta
8	chr12:58293200-58299000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:58293200-58299000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:58293200-58299000	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:58293200-58299000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:58293200-58299000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:58293200-58299000	Weak transcription	Brain Substantia Nigra	brain
14	chr12:58293200-58299000	Weak transcription	Fetal Lung	lung
15	chr12:58293200-58299000	Weak transcription	A549	lung
16	chr12:58293200-58299000	Weak transcription	NHDF-Ad	bronchial
17	chr12:58293400-58296600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:58293400-58298800	Weak transcription	Hela-S3	cervix
19	chr12:58293400-58299000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:58293400-58299000	Weak transcription	Brain Anterior Caudate	brain
21	chr12:58293400-58299000	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:58293400-58299000	Weak transcription	Fetal Stomach	stomach
23	chr12:58293400-58299000	Weak transcription	K562	blood
24	chr12:58293800-58298800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:58293800-58299000	Weak transcription	Primary T cells from cord blood	blood
26	chr12:58293800-58299000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:58293800-58299000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr12:58293800-58299000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr12:58293800-58299000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr12:58293800-58299000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:58293800-58299000	Weak transcription	HMEC	breast
32	chr12:58294000-58299000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:58294000-58299000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr12:58294000-58299000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr12:58294000-58299000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:58294000-58299000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr12:58294000-58299000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:58294000-58299000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:58294000-58299000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:58294200-58298200	Weak transcription	Fetal Thymus	thymus
41	chr12:58294200-58298800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr12:58294200-58298800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:58294200-58299000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:58294400-58298800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr12:58294400-58299000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:58294600-58299000	Weak transcription	GM12878-XiMat	blood
47	chr12:58295600-58296800	Enhancers	HepG2	liver
48	chr12:58295800-58296800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:58295800-58297400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:58296000-58296800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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