Variant report

Variant	rs35273490
Chromosome Location	chr4:110398248-110398249
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110396923..110399404-chr4:110400868..110402670,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10452150	0.81[EUR][1000 genomes]
rs13110999	0.81[EUR][1000 genomes]
rs13122093	0.81[EUR][1000 genomes]
rs13151464	0.81[EUR][1000 genomes]
rs33911248	0.81[EUR][1000 genomes]
rs34132975	0.81[EUR][1000 genomes]
rs34320670	0.84[EUR][1000 genomes]
rs34660885	0.81[EUR][1000 genomes]
rs34813537	0.81[EUR][1000 genomes]
rs35313553	0.81[EUR][1000 genomes]
rs35450490	0.81[EUR][1000 genomes]
rs35699695	0.81[EUR][1000 genomes]
rs35866656	0.81[EUR][1000 genomes]
rs35950484	0.81[EUR][1000 genomes]
rs36102563	0.81[EUR][1000 genomes]
rs67923759	0.81[EUR][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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv525385	chr4:110395146-110466413	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs35273490	SEC24B	cis	brain	BrainEAC
rs35273490	SEC24B	cis	cerebellar cortex	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110363600-110398400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:110378800-110415800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:110384800-110399800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:110384800-110401000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:110385400-110402800	Weak transcription	Brain Germinal Matrix	brain
6	chr4:110385400-110403000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:110385600-110415800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:110385600-110415800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr4:110385600-110415800	Weak transcription	Esophagus	oesophagus
10	chr4:110385800-110415600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:110385800-110415800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:110385800-110415800	Weak transcription	Colonic Mucosa	Colon
13	chr4:110386000-110415800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr4:110386200-110415800	Weak transcription	Lung	lung
15	chr4:110386200-110415800	Weak transcription	Spleen	Spleen
16	chr4:110386400-110398400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr4:110386400-110413600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr4:110386400-110415600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr4:110386400-110415800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr4:110386600-110402400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr4:110386600-110415600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:110386800-110402400	Weak transcription	Fetal Lung	lung
23	chr4:110386800-110405200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr4:110386800-110415600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr4:110387000-110402200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:110387000-110402200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr4:110387000-110402800	Weak transcription	Brain Angular Gyrus	brain
28	chr4:110387000-110415600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:110387000-110415800	Weak transcription	Fetal Brain Male	brain
30	chr4:110387000-110415800	Weak transcription	Fetal Brain Female	brain
31	chr4:110387000-110416400	Weak transcription	Right Ventricle	heart
32	chr4:110387200-110415600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr4:110387600-110415600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr4:110388000-110403600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:110389400-110398800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:110389400-110402200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr4:110390000-110415400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:110391600-110402000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr4:110391800-110415400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr4:110391800-110415600	Weak transcription	Ovary	ovary
41	chr4:110393000-110415600	Weak transcription	Fetal Stomach	stomach
42	chr4:110393000-110415600	Weak transcription	Thymus	Thymus
43	chr4:110393000-110415800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:110393000-110415800	Weak transcription	Gastric	stomach
45	chr4:110393000-110415800	Weak transcription	Left Ventricle	heart
46	chr4:110393000-110415800	Weak transcription	Pancreas	Pancrea
47	chr4:110393000-110417400	Weak transcription	Psoas Muscle	Psoas
48	chr4:110393200-110403000	Weak transcription	Placenta	Placenta
49	chr4:110393200-110405000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr4:110393200-110412400	Weak transcription	Fetal Muscle Leg	muscle

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