Variant report

Variant	rs1048497
Chromosome Location	chr12:124499542-124499543
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124492436..124495836-chr12:124497804..124500865,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10744163	1.00[CHD][hapmap]
rs12424538	1.00[ASN][1000 genomes]
rs1316952	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs34934281	1.00[ASN][1000 genomes]
rs7296124	0.85[MEX][hapmap]
rs73424827	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv820508	chr12:124495436-124500803	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv826535	chr12:124495436-124500803	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv12431	chr12:124496106-124499990	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv975536	chr12:124496139-124500626	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv560536	chr12:124496316-124499542	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv1797434	chr12:124496316-124499839	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv1841900	chr12:124496316-124499839	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv560537	chr12:124496316-124499839	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv819689	chr12:124497375-124499998	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv899580	chr12:124499542-124565258	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

Variant related diseases (count:2)

Disease	PMID	Source
Visceral adipose tissue adjusted for BMI	22589738	GWAS catalog
Visceral adipose tissue/subcutaneous adipose tissue ratio	22589738	GWAS catalog

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1048497	CCDC92	cis	cerebellum	SCAN
rs1048497	DDX55	cis	parietal	SCAN
rs1048497	TCTN2	cis	parietal	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124489200-124510400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:124490400-124500400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:124493000-124500200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:124493000-124501400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:124493000-124501600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:124493000-124503200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr12:124493200-124501200	Strong transcription	Fetal Stomach	stomach
8	chr12:124493400-124499800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:124493600-124503200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:124493600-124505400	Weak transcription	Right Atrium	heart
11	chr12:124494200-124500600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:124494400-124500400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:124495000-124499600	Strong transcription	Fetal Muscle Leg	muscle
14	chr12:124495000-124500000	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:124495000-124500200	Strong transcription	HSMM	muscle
16	chr12:124495000-124500400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:124495000-124500600	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:124495000-124500800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr12:124495200-124499600	Strong transcription	Brain Germinal Matrix	brain
20	chr12:124495200-124500200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:124495600-124500600	Strong transcription	Fetal Thymus	thymus
22	chr12:124496200-124500600	Strong transcription	Thymus	Thymus
23	chr12:124497400-124504600	Weak transcription	Small Intestine	intestine
24	chr12:124497400-124508800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr12:124497400-124509000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:124497800-124500000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:124497800-124500000	Weak transcription	Aorta	Aorta
28	chr12:124497800-124500000	Weak transcription	Right Ventricle	heart
29	chr12:124497800-124502800	Weak transcription	Brain Substantia Nigra	brain
30	chr12:124497800-124502800	Weak transcription	NHDF-Ad	bronchial
31	chr12:124497800-124505400	Weak transcription	Ovary	ovary
32	chr12:124497800-124505400	Weak transcription	Pancreas	Pancrea
33	chr12:124497800-124506600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:124497800-124508400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:124497800-124508800	Weak transcription	HMEC	breast
36	chr12:124497800-124508800	Weak transcription	NHEK	skin
37	chr12:124497800-124511000	Weak transcription	Psoas Muscle	Psoas
38	chr12:124497800-124511200	Weak transcription	Fetal Brain Male	brain
39	chr12:124497800-124511400	Weak transcription	Gastric	stomach
40	chr12:124497800-124511600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr12:124498000-124499600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:124498000-124499600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr12:124498000-124499600	Weak transcription	Colonic Mucosa	Colon
44	chr12:124498000-124499800	Weak transcription	GM12878-XiMat	blood
45	chr12:124498000-124500000	Weak transcription	NHLF	lung
46	chr12:124498000-124500800	Weak transcription	K562	blood
47	chr12:124498000-124501000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:124498000-124501600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:124498000-124501800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:124498000-124502000	Weak transcription	HepG2	liver

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