Variant report

Variant	rs2091676
Chromosome Location	chr12:116871424-116871425
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:116863823..116865402-chr12:116870010..116872543,2	K562	blood:
2	chr12:116862815..116867258-chr12:116867688..116873665,8	MCF-7	breast:
3	chr12:116869767..116872819-chr12:116879197..116881909,3	MCF-7	breast:
4	chr12:116827236..116830738-chr12:116867857..116873341,7	MCF-7	breast:
5	chr12:116713840..116716217-chr12:116869656..116871924,3	MCF-7	breast:
6	chr12:116714201..116716433-chr12:116870106..116872016,2	MCF-7	breast:
7	chr12:116868461..116874518-chr12:116929408..116934961,8	MCF-7	breast:
8	chr12:116870032..116871655-chr12:116975308..116976857,2	MCF-7	breast:
9	chr12:116858356..116860792-chr12:116870655..116872690,2	MCF-7	breast:
10	chr12:116842855..116845952-chr12:116869498..116873859,6	MCF-7	breast:
11	chr12:116870822..116873673-chr12:116997281..116998903,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000264037	Chromatin interaction
ENSG00000123066	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10774858	0.85[EUR][1000 genomes]
rs10774859	0.85[EUR][1000 genomes]
rs10850629	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs10850630	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs10850632	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11068027	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7305316	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs7306019	0.81[CEU][hapmap];0.84[EUR][1000 genomes]

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	nsv973993	chr12:116861012-116874861	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116864800-116872200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:116865400-116871800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:116865400-116872000	Weak transcription	Ovary	ovary
4	chr12:116866000-116871800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:116866400-116872200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:116866600-116872000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:116866600-116872200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:116866800-116872000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:116866800-116872000	Weak transcription	K562	blood
10	chr12:116868800-116874600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr12:116869000-116875600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr12:116869200-116872200	Enhancers	Placenta	Placenta
13	chr12:116869400-116871800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:116869400-116872000	Enhancers	A549	lung
15	chr12:116869400-116872200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:116869800-116871600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:116869800-116872000	Enhancers	NHDF-Ad	bronchial
18	chr12:116869800-116872400	Weak transcription	Aorta	Aorta
19	chr12:116870000-116871600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:116870200-116871600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:116870200-116871600	Weak transcription	Fetal Brain Female	brain
22	chr12:116870200-116871800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:116870200-116872200	Weak transcription	Right Atrium	heart
24	chr12:116870400-116871600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:116870400-116871800	Weak transcription	Hela-S3	cervix
26	chr12:116870600-116871600	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:116870600-116871800	Weak transcription	Fetal Stomach	stomach
28	chr12:116870800-116872000	Enhancers	Osteobl	bone
29	chr12:116870800-116872800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr12:116870800-116872800	Enhancers	Fetal Thymus	thymus
31	chr12:116870800-116873600	Enhancers	Fetal Brain Male	brain
32	chr12:116871000-116871800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr12:116871000-116871800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr12:116871000-116872000	Enhancers	Colon Smooth Muscle	Colon
35	chr12:116871000-116872200	Enhancers	Fetal Intestine Small	intestine
36	chr12:116871000-116872200	Enhancers	Fetal Lung	lung
37	chr12:116871000-116872200	Enhancers	HSMMtube	muscle
38	chr12:116871000-116872200	Enhancers	NHLF	lung
39	chr12:116871000-116872800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:116871000-116873000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:116871000-116876000	Enhancers	Fetal Intestine Large	intestine
42	chr12:116871200-116871600	Enhancers	Dnd41	blood
43	chr12:116871200-116871800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:116871200-116871800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:116871200-116872000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:116871200-116872000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:116871200-116872000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:116871200-116872000	Weak transcription	Fetal Kidney	kidney
49	chr12:116871200-116872000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr12:116871200-116872000	Enhancers	Skeletal Muscle Female	skeletal muscle

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