Variant report

Variant	rs550190563
Chromosome Location	chr12:12520173-12520174
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12519017..12521870-chr12:12849231..12851723,2	K562	blood:
2	chr12:12517934..12520693-chr12:12524024..12526072,2	MCF-7	breast:
3	chr12:12509354..12513359-chr12:12517458..12522131,6	K562	blood:
4	chr12:12518944..12521734-chr12:12847277..12849075,2	MCF-7	breast:
5	chr12:12519688..12522989-chr12:12524598..12527681,3	K562	blood:
6	chr12:12508565..12513346-chr12:12518905..12526361,9	K562	blood:

Variant related genes	Relation type
ENSG00000165714	Chromatin interaction
ENSG00000205791	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898808	chr12:12463407-12549503	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1036040	chr12:12506839-12541869	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1037542	chr12:12506839-12542868	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1045637	chr12:12506839-12546747	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv1812889	chr12:12510842-12593406	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv1052243	chr12:12512726-12541869	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv1051597	chr12:12513364-12541869	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv557584	chr12:12514203-12541869	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv818893	chr12:12515184-12541869	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv1042425	chr12:12519319-12540455	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv1050133	chr12:12519319-12541869	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv1049869	chr12:12519319-12542868	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12510800-12527400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:12510800-12528200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:12511000-12520600	Weak transcription	Left Ventricle	heart
4	chr12:12511200-12522200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:12511200-12525800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:12511400-12532600	Weak transcription	Fetal Lung	lung
7	chr12:12511400-12532800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:12511400-12535000	Weak transcription	Esophagus	oesophagus
9	chr12:12511400-12537800	Weak transcription	HSMMtube	muscle
10	chr12:12511400-12540600	Weak transcription	HSMM	muscle
11	chr12:12511600-12520200	Weak transcription	Adipose Nuclei	Adipose
12	chr12:12511600-12530200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:12511600-12532800	Weak transcription	Osteobl	bone
14	chr12:12511600-12540000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:12511600-12550600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:12511800-12520800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:12511800-12526200	Weak transcription	Liver	Liver
18	chr12:12511800-12526800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:12511800-12532600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:12512000-12523200	Weak transcription	Fetal Heart	heart
21	chr12:12512000-12525200	Weak transcription	Fetal Thymus	thymus
22	chr12:12512000-12532600	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:12512000-12545000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:12512200-12520200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:12512200-12520400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:12512200-12525800	Weak transcription	Fetal Intestine Large	intestine
27	chr12:12512200-12526000	Weak transcription	Small Intestine	intestine
28	chr12:12512200-12529800	Weak transcription	Fetal Kidney	kidney
29	chr12:12512200-12540400	Weak transcription	HMEC	breast
30	chr12:12512400-12521400	Weak transcription	Thymus	Thymus
31	chr12:12512400-12525600	Weak transcription	HepG2	liver
32	chr12:12512400-12526400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr12:12512400-12540600	Weak transcription	Psoas Muscle	Psoas
34	chr12:12512800-12525800	Weak transcription	K562	blood
35	chr12:12512800-12532600	Weak transcription	Hela-S3	cervix
36	chr12:12513000-12532600	Weak transcription	GM12878-XiMat	blood
37	chr12:12513200-12532400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr12:12514200-12521200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:12516200-12537600	Weak transcription	Dnd41	blood
40	chr12:12516400-12520600	Weak transcription	Ovary	ovary
41	chr12:12516400-12521200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:12516400-12529800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr12:12516400-12535200	Weak transcription	Lung	lung
44	chr12:12516400-12540000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:12516600-12525000	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:12517400-12521200	Enhancers	Brain Cingulate Gyrus	brain
47	chr12:12517400-12521200	Enhancers	Brain Substantia Nigra	brain
48	chr12:12517600-12520800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:12517800-12520400	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr12:12517800-12520600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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