Variant report

Variant	rs149128491
Chromosome Location	chr12:118516135-118516136
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118498337..118500020-chr12:118515700..118517316,2	MCF-7	breast:
2	chr12:118498007..118499549-chr12:118515723..118517306,2	K562	blood:
3	chr12:118515190..118516859-chr12:118518288..118520974,2	K562	blood:

Variant related genes	Relation type
ENSG00000176871	Chromatin interaction
ENSG00000176834	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv560389	chr12:118502467-118564087	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv899546	chr12:118515230-118563982	Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118500400-118516800	Weak transcription	Spleen	Spleen
2	chr12:118500600-118535200	Weak transcription	Brain Substantia Nigra	brain
3	chr12:118500800-118518200	Weak transcription	Left Ventricle	heart
4	chr12:118500800-118526400	Weak transcription	HMEC	breast
5	chr12:118500800-118539600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:118500800-118539800	Weak transcription	Right Ventricle	heart
7	chr12:118500800-118540800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:118501000-118516400	Weak transcription	Colonic Mucosa	Colon
9	chr12:118501000-118517200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:118501000-118525600	Weak transcription	Fetal Brain Female	brain
11	chr12:118501000-118527400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:118501000-118530600	Weak transcription	Brain Angular Gyrus	brain
13	chr12:118501000-118533800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:118501000-118539600	Weak transcription	Psoas Muscle	Psoas
15	chr12:118501000-118540200	Weak transcription	HUVEC	blood vessel
16	chr12:118501000-118540800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:118501000-118540800	Weak transcription	NH-A	brain
18	chr12:118501200-118516200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:118501200-118526400	Weak transcription	Small Intestine	intestine
20	chr12:118501200-118536000	Weak transcription	Right Atrium	heart
21	chr12:118501200-118540400	Weak transcription	Brain Germinal Matrix	brain
22	chr12:118501200-118540800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:118501200-118541000	Weak transcription	Aorta	Aorta
24	chr12:118501600-118519800	Weak transcription	Fetal Brain Male	brain
25	chr12:118501600-118540400	Weak transcription	NHLF	lung
26	chr12:118501800-118527000	Weak transcription	NHEK	skin
27	chr12:118501800-118533200	Weak transcription	Hela-S3	cervix
28	chr12:118502200-118540800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:118502200-118540800	Weak transcription	Brain Anterior Caudate	brain
30	chr12:118502600-118536200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:118503200-118519200	Weak transcription	HepG2	liver
32	chr12:118503200-118521800	Weak transcription	Stomach Mucosa	stomach
33	chr12:118503600-118520600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:118504000-118517000	Weak transcription	Dnd41	blood
35	chr12:118506200-118517600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr12:118509000-118538400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr12:118509200-118528000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr12:118509400-118528800	Weak transcription	NHDF-Ad	bronchial
39	chr12:118510400-118518000	Weak transcription	Fetal Kidney	kidney
40	chr12:118511800-118517200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:118511800-118517200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:118511800-118534400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr12:118511800-118539600	Weak transcription	Pancreas	Pancrea
44	chr12:118513400-118520200	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr12:118513400-118520400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:118513400-118520600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr12:118513400-118520800	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr12:118513400-118520800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr12:118513400-118522000	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr12:118513400-118523400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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