Variant report

Variant	rs565722517
Chromosome Location	chr12:122177843-122177844
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122175709..122178951-chr12:122179528..122184666,6	K562	blood:
2	chr12:122176381..122178951-chr12:122179528..122182471,2	K562	blood:
3	chr12:122177645..122180550-chr12:122180638..122183129,3	MCF-7	breast:
4	chr12:122176347..122177868-chr12:122237550..122239759,2	K562	blood:
5	chr12:122149726..122151344-chr12:122176465..122178233,2	K562	blood:

Variant related genes	Relation type
ENSG00000212694	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000188735	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv560459	chr12:122167095-122185780	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv899566	chr12:122167095-122265106	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
5	nsv560460	chr12:122177322-122185780	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv560461	chr12:122177322-122185846	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv560462	chr12:122177322-122186071	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122151600-122186200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:122152000-122182200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:122152000-122188000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:122152200-122181600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:122152200-122181800	Weak transcription	Right Ventricle	heart
6	chr12:122152200-122186400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:122152200-122188000	Weak transcription	Brain Germinal Matrix	brain
8	chr12:122152200-122188000	Weak transcription	Dnd41	blood
9	chr12:122152200-122191600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:122152200-122191600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:122152200-122200200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:122152400-122188000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:122152800-122186200	Weak transcription	Pancreas	Pancrea
14	chr12:122154000-122182200	Weak transcription	Primary T cells from cord blood	blood
15	chr12:122154200-122200400	Weak transcription	Psoas Muscle	Psoas
16	chr12:122155200-122181600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:122155200-122182400	Weak transcription	NHEK	skin
18	chr12:122155200-122186400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:122155400-122178600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:122155600-122186200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:122157200-122179600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:122157200-122182400	Weak transcription	GM12878-XiMat	blood
23	chr12:122158800-122186200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr12:122158800-122186200	Weak transcription	NHDF-Ad	bronchial
25	chr12:122158800-122186400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:122159000-122186200	Weak transcription	NH-A	brain
27	chr12:122159200-122181600	Weak transcription	NHLF	lung
28	chr12:122159200-122186400	Weak transcription	HSMM	muscle
29	chr12:122159400-122194800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:122159600-122181600	Weak transcription	Brain Angular Gyrus	brain
31	chr12:122161800-122181600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:122163400-122181400	Weak transcription	Fetal Stomach	stomach
33	chr12:122163400-122186200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr12:122163600-122180400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:122163600-122182000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr12:122163600-122186200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:122163600-122186200	Weak transcription	Liver	Liver
38	chr12:122163600-122186600	Weak transcription	HSMMtube	muscle
39	chr12:122163600-122188000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:122163600-122188200	Weak transcription	Brain Anterior Caudate	brain
41	chr12:122163800-122182400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:122163800-122186200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:122164200-122181400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:122164800-122188200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:122166800-122186200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr12:122166800-122186200	Weak transcription	Thymus	Thymus
47	chr12:122166800-122186400	Weak transcription	Colon Smooth Muscle	Colon
48	chr12:122167200-122186400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr12:122167600-122186200	Weak transcription	Spleen	Spleen
50	chr12:122170400-122178600	Weak transcription	A549	lung

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