Variant report

Variant	rs12432194
Chromosome Location	chr14:24636025-24636026
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24575682..24577445-chr14:24635634..24638482,2	K562	blood:
2	chr14:24629652..24632387-chr14:24633563..24637546,5	K562	blood:
3	chr14:24631619..24637585-chr14:24644952..24647499,6	K562	blood:
4	chr14:24630385..24632878-chr14:24633609..24637546,6	K562	blood:
5	chr14:24631879..24637788-chr14:24639506..24644553,5	K562	blood:
6	chr14:24634478..24636921-chr14:24656618..24658137,2	K562	blood:
7	chr14:24627382..24636644-chr14:24680297..24686914,11	MCF-7	breast:
8	chr14:24634103..24636921-chr14:24656610..24658137,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254692	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000213928	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000100918	Chromatin interaction
ENSG00000254505	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10583	1.00[CEU][hapmap]
rs12436555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv869985	chr14:24578013-24652669	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv901498	chr14:24591892-24662177	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs12432194	TGM1	cis	cerebellum	SCAN
rs12432194	LRRC16B	cis	parietal	SCAN
rs12432194	DHRS1	cis	cerebellum	SCAN
rs12432194	DHRS1	cis	parietal	SCAN
rs12432194	OR4N2	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24631000-24640600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:24631200-24640600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:24631600-24636200	Strong transcription	Fetal Brain Female	brain
4	chr14:24631600-24637200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:24631600-24637200	Strong transcription	A549	lung
6	chr14:24631600-24640400	Weak transcription	Fetal Brain Male	brain
7	chr14:24631600-24653800	Weak transcription	K562	blood
8	chr14:24631800-24636200	Strong transcription	Brain Germinal Matrix	brain
9	chr14:24632000-24636200	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr14:24632000-24636600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr14:24632000-24637200	Strong transcription	Fetal Lung	lung
12	chr14:24632000-24637200	Strong transcription	HepG2	liver
13	chr14:24632000-24639200	Strong transcription	Osteobl	bone
14	chr14:24632200-24636200	Strong transcription	NH-A	brain
15	chr14:24632200-24636600	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr14:24632200-24637200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:24632200-24637200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr14:24632200-24637200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:24632200-24637200	Strong transcription	Primary hematopoietic stem cells	blood
20	chr14:24632200-24637200	Strong transcription	Aorta	Aorta
21	chr14:24632200-24637200	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr14:24632200-24637200	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:24632200-24637400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:24632200-24640000	Strong transcription	Thymus	Thymus
25	chr14:24632400-24636400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
26	chr14:24632400-24637000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:24632400-24637000	Strong transcription	HSMMtube	muscle
28	chr14:24632400-24637200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:24632400-24637200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:24632400-24637200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:24632400-24637200	Strong transcription	NHLF	lung
32	chr14:24632400-24639800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:24632400-24639800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:24632600-24636200	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr14:24632600-24636400	Strong transcription	Colon Smooth Muscle	Colon
36	chr14:24632600-24636600	Strong transcription	Hela-S3	cervix
37	chr14:24632600-24637000	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr14:24632600-24637200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:24632600-24637200	Strong transcription	Brain Cingulate Gyrus	brain
40	chr14:24632600-24637200	Strong transcription	Fetal Muscle Trunk	muscle
41	chr14:24632600-24637200	Genic enhancers	Monocytes-CD14+_RO01746	blood
42	chr14:24632600-24637200	Strong transcription	NHDF-Ad	bronchial
43	chr14:24632600-24640400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:24632800-24636200	Strong transcription	Brain Angular Gyrus	brain
45	chr14:24632800-24636400	Strong transcription	Right Ventricle	heart
46	chr14:24632800-24637000	Strong transcription	Esophagus	oesophagus
47	chr14:24632800-24637000	Strong transcription	Ovary	ovary
48	chr14:24632800-24637200	Strong transcription	Brain Anterior Caudate	brain
49	chr14:24632800-24637200	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr14:24632800-24637200	Strong transcription	Rectal Smooth Muscle	rectum

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