Variant report

Variant	rs186086311
Chromosome Location	chr12:117455135-117455136
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117454524..117457416-chr12:117594664..117596732,2	K562	blood:

Variant related genes	Relation type
ENSG00000135108	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv983447	chr12:117454899-117457318	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117387800-117463600	Weak transcription	HMEC	breast
2	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
3	chr12:117426200-117466600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:117443800-117461600	Weak transcription	Colonic Mucosa	Colon
5	chr12:117444000-117462800	Weak transcription	K562	blood
6	chr12:117448400-117462000	Weak transcription	Hela-S3	cervix
7	chr12:117450200-117455600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:117450200-117455800	Weak transcription	Fetal Brain Male	brain
9	chr12:117450200-117461800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:117450400-117461800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:117450800-117461200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:117450800-117461600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:117451600-117457000	Strong transcription	Primary T cells from cord blood	blood
14	chr12:117452400-117455200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:117452400-117460200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:117452400-117461800	Weak transcription	Brain Angular Gyrus	brain
17	chr12:117452400-117463400	Strong transcription	Fetal Intestine Large	intestine
18	chr12:117452400-117463800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr12:117452400-117469000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:117452600-117457200	Weak transcription	Spleen	Spleen
21	chr12:117452600-117458000	Strong transcription	Adipose Nuclei	Adipose
22	chr12:117452600-117458000	Weak transcription	Fetal Heart	heart
23	chr12:117452600-117461200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:117452600-117463600	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr12:117452800-117455600	Weak transcription	Left Ventricle	heart
26	chr12:117452800-117462400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr12:117452800-117463200	Strong transcription	Fetal Muscle Trunk	muscle
28	chr12:117452800-117463200	Strong transcription	A549	lung
29	chr12:117452800-117465200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:117452800-117468400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr12:117452800-117470200	Weak transcription	HUVEC	blood vessel
32	chr12:117452800-117479000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:117453000-117456600	Strong transcription	Aorta	Aorta
34	chr12:117453000-117459000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:117453200-117461600	Weak transcription	Brain Substantia Nigra	brain
36	chr12:117453200-117461800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr12:117453200-117461800	Weak transcription	Stomach Mucosa	stomach
38	chr12:117453200-117463600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:117453400-117455400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:117453400-117457200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr12:117453400-117457200	Weak transcription	Lung	lung
42	chr12:117453400-117457600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:117453400-117457600	Weak transcription	HepG2	liver
44	chr12:117453400-117461400	Weak transcription	Right Ventricle	heart
45	chr12:117453600-117455600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:117453600-117455600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:117453600-117455600	Weak transcription	Esophagus	oesophagus
48	chr12:117453600-117457800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:117453600-117461600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:117453600-117461600	Weak transcription	Ovary	ovary

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