Variant report

Variant	rs59221949
Chromosome Location	chr12:106511125-106511126
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106510540..106513439-chr12:106531724..106534489,4	MCF-7	breast:
2	chr12:106499587..106502262-chr12:106509960..106512334,2	MCF-7	breast:
3	chr12:106510418..106512415-chr12:106513603..106516449,2	MCF-7	breast:
4	chr12:106508626..106511209-chr12:106513062..106515642,2	K562	blood:

Variant related genes	Relation type
ENSG00000074590	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs7298228	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832509	chr12:106363888-106516221	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3396995	chr12:106510811-106511265	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106493400-106512400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:106499600-106511400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:106500200-106514000	Enhancers	Liver	Liver
4	chr12:106500800-106521800	Enhancers	Brain Angular Gyrus	brain
5	chr12:106501200-106516800	Enhancers	Right Ventricle	heart
6	chr12:106504200-106524600	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr12:106504800-106529000	Enhancers	Left Ventricle	heart
8	chr12:106504800-106532400	Weak transcription	Spleen	Spleen
9	chr12:106506000-106523800	Enhancers	Psoas Muscle	Psoas
10	chr12:106506200-106513800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:106506400-106515400	Enhancers	Brain Cingulate Gyrus	brain
12	chr12:106507200-106512000	Weak transcription	Esophagus	oesophagus
13	chr12:106507200-106520600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:106507400-106523600	Enhancers	Adipose Nuclei	Adipose
15	chr12:106507600-106512000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:106507800-106512200	Weak transcription	Fetal Kidney	kidney
17	chr12:106507800-106513000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:106507800-106518000	Enhancers	Brain Substantia Nigra	brain
19	chr12:106508000-106513200	Enhancers	Fetal Heart	heart
20	chr12:106508200-106511800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:106508200-106512000	Weak transcription	Fetal Intestine Large	intestine
22	chr12:106508400-106513800	Weak transcription	Colonic Mucosa	Colon
23	chr12:106508400-106513800	Weak transcription	Ovary	ovary
24	chr12:106508400-106523600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr12:106508600-106511800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:106508600-106513800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:106508600-106526600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:106508800-106512000	Weak transcription	NHDF-Ad	bronchial
29	chr12:106508800-106512200	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:106508800-106513000	Weak transcription	NHLF	lung
31	chr12:106509000-106511200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:106509000-106512200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:106509000-106513200	Enhancers	A549	lung
34	chr12:106509000-106513800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr12:106509000-106514600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr12:106509000-106523800	Enhancers	Right Atrium	heart
37	chr12:106509400-106511800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:106509600-106511600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:106509600-106511800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:106509600-106512000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:106509600-106512000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:106509600-106512000	Weak transcription	Hela-S3	cervix
43	chr12:106509600-106512200	Weak transcription	Fetal Lung	lung
44	chr12:106509600-106513000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr12:106509600-106513800	Weak transcription	HSMM	muscle
46	chr12:106509600-106519400	Weak transcription	HUVEC	blood vessel
47	chr12:106509800-106511400	Weak transcription	Brain Anterior Caudate	brain
48	chr12:106509800-106511600	Weak transcription	NHEK	skin
49	chr12:106509800-106511800	Weak transcription	Fetal Stomach	stomach
50	chr12:106509800-106512000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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