Variant report

Variant	rs12523041
Chromosome Location	chr5:126137110-126137111
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	chr5:126135601..126137322-chr5:126144015..126147273,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11241910	0.81[CHB][hapmap];0.86[AFR][1000 genomes]
rs11741648	0.86[AFR][1000 genomes]
rs11748362	0.83[CHD][hapmap]
rs11748369	0.81[CHB][hapmap];0.84[CHD][hapmap];0.93[YRI][hapmap]
rs11748382	1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12514001	0.83[CHD][hapmap]
rs12514715	0.81[CHB][hapmap]
rs17598783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036847	0.81[CHB][hapmap];0.94[CHD][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs34433938	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35036110	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35137067	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35500127	0.80[AFR][1000 genomes]
rs35991959	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3828699	0.93[YRI][hapmap]
rs62391707	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6595735	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6595736	0.84[AFR][1000 genomes]
rs6595738	0.81[CHB][hapmap];0.86[AFR][1000 genomes]
rs6873056	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6873780	0.85[AFR][1000 genomes]
rs6874037	0.93[YRI][hapmap]
rs6894559	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7708419	0.81[CHB][hapmap];0.93[YRI][hapmap]

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	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv533306	chr5:126122436-126137162	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12523041	FBN2	cis	cerebellum	SCAN

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126114600-126141600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:126114600-126142000	Weak transcription	Spleen	Spleen
3	chr5:126114600-126161600	Weak transcription	Ovary	ovary
4	chr5:126115000-126140400	Weak transcription	Fetal Intestine Large	intestine
5	chr5:126115800-126137400	Weak transcription	HSMM	muscle
6	chr5:126115800-126145800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:126116000-126141600	Weak transcription	Fetal Stomach	stomach
8	chr5:126116400-126140000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:126116400-126140200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:126116400-126140200	Weak transcription	Thymus	Thymus
11	chr5:126116400-126141000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:126116400-126143400	Weak transcription	Primary B cells from cord blood	blood
13	chr5:126116600-126140000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:126116600-126147800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr5:126117000-126140800	Weak transcription	Fetal Brain Female	brain
16	chr5:126117800-126141200	Weak transcription	Brain Germinal Matrix	brain
17	chr5:126118000-126137200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:126122600-126141000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr5:126124000-126140200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:126124200-126140200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:126124400-126140400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr5:126125400-126146600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr5:126125600-126140400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr5:126127800-126141400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:126128800-126145800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr5:126129200-126137400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr5:126129200-126140000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:126129200-126141400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:126129200-126141600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr5:126129200-126141800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:126130400-126137200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr5:126130400-126137200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:126130400-126139800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr5:126130400-126142000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr5:126130400-126165800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:126130600-126137400	Weak transcription	Fetal Lung	lung
37	chr5:126131200-126140400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:126131600-126141600	Weak transcription	Fetal Intestine Small	intestine
39	chr5:126132000-126141200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr5:126132200-126141600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:126132200-126161200	Weak transcription	Gastric	stomach
42	chr5:126132400-126140400	Weak transcription	HepG2	liver
43	chr5:126132400-126141800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr5:126133400-126137800	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr5:126133800-126141800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr5:126134600-126138000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:126135200-126147200	Weak transcription	Fetal Brain Male	brain
48	chr5:126135400-126138800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr5:126135400-126140800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr5:126135600-126137200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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