Variant report

Variant	rs553171285
Chromosome Location	chr12:50835904-50835905
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50834513..50836638-chr12:50838122..50840024,2	K562	blood:
2	chr12:50819049..50821406-chr12:50835260..50836787,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
2	nsv1054480	chr12:50691039-50859665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1041563	chr12:50705715-50861699	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv899076	chr12:50770291-50869589	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
6	nsv469376	chr12:50792846-50856613	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
7	nsv558841	chr12:50792846-50856613	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
8	nsv470291	chr12:50792846-50858820	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
9	esv1820779	chr12:50835060-50858820	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50809600-50872200	Weak transcription	Fetal Brain Male	brain
2	chr12:50810600-50856600	Weak transcription	Aorta	Aorta
3	chr12:50819200-50870800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:50819800-50842400	Strong transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:50819800-50867400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:50820000-50841400	Weak transcription	Esophagus	oesophagus
7	chr12:50820000-50845400	Weak transcription	Right Atrium	heart
8	chr12:50820000-50867200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:50820200-50869800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:50820200-50871000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:50820600-50839400	Strong transcription	Fetal Thymus	thymus
12	chr12:50820600-50843400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:50820800-50839600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:50821000-50839600	Strong transcription	Hela-S3	cervix
15	chr12:50821000-50841600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:50821000-50843000	Strong transcription	Placenta	Placenta
17	chr12:50821000-50850600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:50821200-50845000	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr12:50821200-50848200	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr12:50821400-50845200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:50821600-50836200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:50821600-50836800	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:50821600-50836800	Strong transcription	A549	lung
24	chr12:50821600-50839600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:50821600-50839600	Strong transcription	Adipose Nuclei	Adipose
26	chr12:50821600-50842800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr12:50821600-50850200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:50821600-50850200	Strong transcription	Fetal Intestine Large	intestine
29	chr12:50821600-50850600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:50821600-50850600	Strong transcription	Dnd41	blood
31	chr12:50821600-50850600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr12:50821600-50850800	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:50821600-50851200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr12:50821600-50851600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:50821600-50851800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:50821600-50856800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:50821600-50863400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:50821600-50871400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:50821600-50872800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:50821800-50839600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr12:50821800-50850600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:50822000-50841400	Strong transcription	Osteobl	bone
43	chr12:50822000-50843400	Strong transcription	Fetal Muscle Trunk	muscle
44	chr12:50822000-50843600	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:50822200-50842200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr12:50822400-50836600	Strong transcription	Primary B cells from cord blood	blood
47	chr12:50822400-50839400	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr12:50822600-50842000	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr12:50824000-50839000	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr12:50824000-50839000	Strong transcription	HUVEC	blood vessel

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