Variant report

Variant	rs12418161
Chromosome Location	chr11:72461501-72461502
allele	G/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72460278..72463137-chr11:72532623..72535732,3	K562	blood:
2	chr11:72461276..72463225-chr11:72470233..72472021,2	MCF-7	breast:
3	chr11:72460106..72462088-chr11:72502997..72504997,2	MCF-7	breast:
4	chr11:72460278..72463137-chr11:72532761..72535732,2	K562	blood:
5	chr11:72459601..72462476-chr11:72491588..72494440,2	K562	blood:
6	chr11:72460015..72463232-chr11:72523862..72525908,3	MCF-7	breast:
7	chr11:72459780..72464369-chr11:72496820..72501695,6	MCF-7	breast:
8	chr11:72460411..72465058-chr11:72522153..72526935,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000186635	Chromatin interaction
ENSG00000214530	Chromatin interaction
ENSG00000168010	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12419767	1.00[AFR][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	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
3	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72448400-72461600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:72449600-72462200	Weak transcription	HSMM	muscle
3	chr11:72449800-72462200	Weak transcription	Gastric	stomach
4	chr11:72450000-72462200	Genic enhancers	Fetal Intestine Small	intestine
5	chr11:72451000-72462200	Enhancers	Fetal Intestine Large	intestine
6	chr11:72453000-72461600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:72453200-72461600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:72453200-72462200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:72453200-72462200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:72453400-72461600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:72453400-72462000	Weak transcription	NHLF	lung
12	chr11:72453400-72462200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:72453600-72461600	Weak transcription	Small Intestine	intestine
14	chr11:72453600-72461800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:72453600-72461800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:72453600-72462000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:72453600-72462200	Weak transcription	HMEC	breast
18	chr11:72453600-72462400	Weak transcription	Left Ventricle	heart
19	chr11:72453800-72461800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:72453800-72462000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:72453800-72462000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:72453800-72462400	Weak transcription	Esophagus	oesophagus
23	chr11:72454000-72462000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:72454200-72462400	Weak transcription	Fetal Heart	heart
25	chr11:72455400-72462200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr11:72455800-72461600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr11:72455800-72462200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:72455800-72462200	Weak transcription	Right Ventricle	heart
29	chr11:72456000-72461600	Weak transcription	Colon Smooth Muscle	Colon
30	chr11:72456000-72461800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr11:72456000-72461800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:72456000-72462400	Weak transcription	Right Atrium	heart
33	chr11:72456200-72461600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:72456200-72461600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:72456400-72462000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr11:72456600-72462000	Genic enhancers	Primary B cells from peripheral blood	blood
37	chr11:72457200-72461800	Weak transcription	Fetal Stomach	stomach
38	chr11:72457400-72462200	Weak transcription	HSMMtube	muscle
39	chr11:72457400-72462400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:72457600-72461800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:72458200-72461600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:72458200-72461600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:72458600-72462200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:72459000-72461600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr11:72459000-72461800	Weak transcription	Fetal Thymus	thymus
46	chr11:72459000-72462200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:72459200-72461600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:72459400-72462000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr11:72459600-72462400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:72459600-72462400	Flanking Active TSS	HepG2	liver

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