Variant report

Variant	rs558485914
Chromosome Location	chr12:51217417-51217418
allele	-/TATAT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51216774..51221510-chr12:51379576..51384198,5	MCF-7	breast:
2	chr12:51216775..51221102-chr12:51419333..51421670,3	K562	blood:
3	chr12:50793039..50794712-chr12:51216768..51219272,2	K562	blood:

Variant related genes	Relation type
ENSG00000110911	Chromatin interaction
ENSG00000161813	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv899078	chr12:51213433-51286750	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3527700	chr12:51215835-51219508	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3527701	chr12:51215835-51219508	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3496675	chr12:51216090-51218740	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3496686	chr12:51216340-51218681	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv3496697	chr12:51216340-51218681	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv15451	chr12:51216724-51218337	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv558861	chr12:51216751-51217813	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv558862	chr12:51216751-51217979	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv558863	chr12:51216751-51218091	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv558864	chr12:51216803-51217813	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv558865	chr12:51216803-51218091	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv558866	chr12:51216803-51218287	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv558867	chr12:51216910-51217813	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv558868	chr12:51216971-51217979	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv558869	chr12:51216971-51218091	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv558870	chr12:51216971-51218114	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	nsv558871	chr12:51217181-51218091	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	nsv558872	chr12:51217181-51218227	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv558873	chr12:51217181-51218287	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51200600-51222200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:51205000-51228200	Weak transcription	Gastric	stomach
3	chr12:51205200-51217600	Weak transcription	Psoas Muscle	Psoas
4	chr12:51208000-51219000	Weak transcription	Stomach Mucosa	stomach
5	chr12:51208400-51218800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:51208400-51219000	Weak transcription	HSMMtube	muscle
7	chr12:51208400-51219000	Weak transcription	NHLF	lung
8	chr12:51208600-51219000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:51209800-51219000	Weak transcription	Fetal Kidney	kidney
10	chr12:51210200-51222000	Weak transcription	Esophagus	oesophagus
11	chr12:51210400-51217800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:51210400-51218200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:51210400-51219000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:51210600-51219000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:51210600-51222000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:51210600-51223400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:51210800-51218800	Weak transcription	HMEC	breast
18	chr12:51210800-51218800	Weak transcription	NHEK	skin
19	chr12:51211000-51218800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:51211000-51218800	Weak transcription	Brain Anterior Caudate	brain
21	chr12:51211000-51218800	Weak transcription	Brain Substantia Nigra	brain
22	chr12:51211000-51218800	Weak transcription	K562	blood
23	chr12:51211000-51219000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr12:51211000-51222000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:51211000-51222000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:51211800-51218600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr12:51212200-51218000	Weak transcription	HepG2	liver
28	chr12:51212200-51218800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:51212200-51218800	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:51212200-51219000	Weak transcription	Fetal Intestine Large	intestine
31	chr12:51212200-51219400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:51212200-51219400	Weak transcription	Aorta	Aorta
33	chr12:51212200-51219400	Weak transcription	Ovary	ovary
34	chr12:51212400-51218800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:51212400-51218800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr12:51212400-51219000	Weak transcription	A549	lung
37	chr12:51212400-51219600	Weak transcription	Fetal Lung	lung
38	chr12:51213000-51219000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:51213000-51219000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:51213200-51218800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:51213200-51218800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr12:51213200-51219000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:51213200-51219000	Weak transcription	Brain Hippocampus Middle	brain
44	chr12:51213200-51219000	Weak transcription	Thymus	Thymus
45	chr12:51213200-51219400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr12:51213200-51222200	Weak transcription	Fetal Muscle Leg	muscle
47	chr12:51213400-51217600	Weak transcription	Primary B cells from cord blood	blood
48	chr12:51213400-51218600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr12:51213400-51219400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:51213400-51221800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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