Variant report

Variant	rs553208641
Chromosome Location	chr12:120684332-120684333
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120642171..120684465-chr12:120719749..120734210,267	K562	blood:
2	chr12:120656223..120689871-chr12:120720394..120738112,311	MCF-7	breast:
3	chr12:120683364..120686301-chr12:120702145..120704591,2	K562	blood:

Variant related genes	Relation type
ENSG00000089159	Chromatin interaction
ENSG00000123009	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000202538	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
5	nsv976654	chr12:120683141-120685568	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120665200-120692000	Enhancers	Placenta	Placenta
2	chr12:120666200-120686000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr12:120669800-120687600	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr12:120674200-120687600	Weak transcription	Fetal Kidney	kidney
5	chr12:120675800-120685000	Weak transcription	Stomach Mucosa	stomach
6	chr12:120675800-120686400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr12:120676400-120685000	Genic enhancers	NHEK	skin
8	chr12:120676400-120687400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:120676400-120699400	Weak transcription	Aorta	Aorta
10	chr12:120676800-120685800	Weak transcription	Small Intestine	intestine
11	chr12:120677000-120685200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:120678200-120685200	Weak transcription	Hela-S3	cervix
13	chr12:120678800-120687200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr12:120679600-120687200	Weak transcription	Brain Angular Gyrus	brain
15	chr12:120679800-120685800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:120679800-120686000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:120680000-120685200	Enhancers	HUVEC	blood vessel
18	chr12:120680000-120685400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr12:120680000-120686000	Weak transcription	Colonic Mucosa	Colon
20	chr12:120680000-120687000	Weak transcription	Brain Anterior Caudate	brain
21	chr12:120680200-120687400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr12:120680400-120685800	Weak transcription	Fetal Intestine Large	intestine
23	chr12:120680400-120687400	Weak transcription	Fetal Thymus	thymus
24	chr12:120681000-120686000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:120681000-120687200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr12:120681600-120685200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr12:120681600-120685600	Weak transcription	HepG2	liver
28	chr12:120681800-120685000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr12:120682000-120684800	Weak transcription	Liver	Liver
30	chr12:120682000-120685000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:120682000-120685000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr12:120682000-120689000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:120682600-120684400	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr12:120682600-120686400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:120682800-120684400	Enhancers	Fetal Muscle Trunk	muscle
36	chr12:120682800-120685600	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr12:120682800-120687800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:120683000-120687200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:120683200-120684400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr12:120683200-120684600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr12:120683200-120684600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr12:120683200-120684600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:120683200-120684600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:120683200-120684600	Weak transcription	Pancreas	Pancrea
45	chr12:120683200-120684800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:120683200-120684800	Enhancers	HMEC	breast
47	chr12:120683200-120685000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:120683200-120685000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr12:120683200-120685000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:120683200-120685000	Weak transcription	Primary T cells from cord blood	blood

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