Variant report

Variant	rs41380144
Chromosome Location	chr12:63259688-63259689
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63251270..63253184-chr12:63258915..63261643,2	MCF-7	breast:
2	chr12:63257305..63259336-chr12:63259485..63261884,2	K562	blood:
3	chr12:63258946..63261199-chr12:63326953..63329454,2	MCF-7	breast:
4	chr12:63255844..63260433-chr12:63273659..63277990,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111110	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17098396	1.00[MKK][hapmap]
rs17098454	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17098470	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17822974	0.90[EUR][1000 genomes];1.00[ASN][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	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63239400-63260200	Weak transcription	Fetal Intestine Small	intestine
2	chr12:63242400-63260200	Weak transcription	Fetal Heart	heart
3	chr12:63253000-63262000	Enhancers	Osteobl	bone
4	chr12:63254400-63262000	Enhancers	HSMM	muscle
5	chr12:63255000-63260000	Weak transcription	K562	blood
6	chr12:63255000-63262400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr12:63255200-63260000	Weak transcription	Fetal Lung	lung
8	chr12:63255200-63260800	Enhancers	Brain Angular Gyrus	brain
9	chr12:63255600-63260000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:63255600-63260000	Weak transcription	Adipose Nuclei	Adipose
11	chr12:63255600-63260400	Weak transcription	Psoas Muscle	Psoas
12	chr12:63255600-63260600	Enhancers	Brain Anterior Caudate	brain
13	chr12:63255600-63261200	Enhancers	Brain Hippocampus Middle	brain
14	chr12:63256000-63262000	Weak transcription	Ovary	ovary
15	chr12:63256200-63259800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:63256400-63259800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:63256400-63260000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:63256400-63262200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr12:63256600-63259800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:63256600-63259800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:63257000-63260400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:63257000-63260600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:63257200-63260000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:63257400-63259800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:63257400-63259800	Enhancers	A549	lung
26	chr12:63257400-63259800	Weak transcription	Hela-S3	cervix
27	chr12:63257400-63259800	Weak transcription	HMEC	breast
28	chr12:63257400-63260200	Weak transcription	NHEK	skin
29	chr12:63257400-63260600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:63257600-63260600	Enhancers	Brain Cingulate Gyrus	brain
31	chr12:63257800-63262600	Enhancers	Brain Substantia Nigra	brain
32	chr12:63258000-63259800	Weak transcription	HUVEC	blood vessel
33	chr12:63258000-63261200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:63258200-63277200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:63258400-63262400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:63258600-63260000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr12:63258600-63261400	Enhancers	HSMMtube	muscle
38	chr12:63258600-63262200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr12:63258800-63260600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:63258800-63260800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:63258800-63261000	Enhancers	Right Atrium	heart
42	chr12:63258800-63262000	Enhancers	NHLF	lung
43	chr12:63258800-63264400	Enhancers	HepG2	liver
44	chr12:63259000-63260400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:63259000-63260400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:63259000-63260600	Enhancers	Aorta	Aorta
47	chr12:63259000-63260800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:63259000-63261000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr12:63259000-63261000	Enhancers	Left Ventricle	heart
50	chr12:63259000-63261200	Enhancers	NHDF-Ad	bronchial

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