Variant report

Variant	rs551456168
Chromosome Location	chr12:120617797-120617798
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120593461..120596062-chr12:120615949..120618513,2	MCF-7	breast:
2	chr12:120614885..120617842-chr12:120729498..120731481,2	K562	blood:
3	chr12:120616088..120618170-chr12:120622990..120624902,2	MCF-7	breast:
4	chr12:120554783..120557550-chr12:120616110..120617995,2	MCF-7	breast:
5	chr12:120614418..120617057-chr12:120617332..120619128,2	K562	blood:
6	chr12:120561767..120563673-chr12:120616678..120618274,2	K562	blood:

Variant related genes	Relation type
ENSG00000200795	Chromatin interaction
ENSG00000111737	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000089154	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	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
6	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 gene(s)	inside rSNPs	diseases
7	esv3436439	chr12:120616469-120620667	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120563000-120629800	Strong transcription	Fetal Stomach	stomach
2	chr12:120563000-120630200	Strong transcription	Fetal Muscle Leg	muscle
3	chr12:120563200-120630400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:120563400-120629200	Strong transcription	Fetal Intestine Small	intestine
5	chr12:120563400-120630200	Strong transcription	Fetal Thymus	thymus
6	chr12:120563600-120626000	Strong transcription	Brain Cingulate Gyrus	brain
7	chr12:120563600-120626200	Strong transcription	Placenta Amnion	Placenta Amnion
8	chr12:120563600-120629000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:120563600-120630200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:120563600-120630200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:120563600-120630200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:120563600-120630200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:120563600-120630200	Strong transcription	Fetal Muscle Trunk	muscle
14	chr12:120563800-120629800	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr12:120563800-120630000	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr12:120563800-120630200	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:120564200-120624400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:120564200-120629600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:120564400-120628600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr12:120564400-120631800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr12:120564800-120618000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:120565000-120628800	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr12:120565000-120630200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:120565000-120630800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:120565200-120630200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:120565400-120618000	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:120565400-120628400	Strong transcription	Adipose Nuclei	Adipose
28	chr12:120565800-120625200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr12:120565800-120629400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:120565800-120630200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr12:120565800-120630400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:120571000-120621200	Weak transcription	Right Atrium	heart
33	chr12:120571200-120617800	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:120571200-120628200	Strong transcription	Fetal Intestine Large	intestine
35	chr12:120580400-120619600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:120594200-120631600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:120594600-120630200	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr12:120597800-120618800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:120601400-120628400	Strong transcription	Liver	Liver
40	chr12:120604400-120619000	Strong transcription	A549	lung
41	chr12:120604600-120619000	Strong transcription	Osteobl	bone
42	chr12:120604600-120630200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:120604600-120630200	Strong transcription	Stomach Smooth Muscle	stomach
44	chr12:120604800-120628200	Strong transcription	Duodenum Mucosa	Duodenum
45	chr12:120605000-120618400	Strong transcription	Lung	lung
46	chr12:120605000-120628200	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:120605000-120628400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr12:120605000-120628400	Strong transcription	Brain Hippocampus Middle	brain
49	chr12:120605000-120628600	Strong transcription	Dnd41	blood
50	chr12:120605000-120630200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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