Variant report

Variant	rs34237418
Chromosome Location	chr4:78979141-78979142
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:78977205..78980008-chr4:79470660..79474757,5	MCF-7	breast:
2	chr4:78978883..78980863-chr4:79393127..79395107,2	MCF-7	breast:
3	chr4:78739575..78742806-chr4:78977392..78979889,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138767	Chromatin interaction
ENSG00000138772	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13129248	0.97[EUR][1000 genomes]
rs17420859	1.00[CHB][hapmap]
rs17450279	1.00[CHB][hapmap]
rs36045725	0.89[EUR][1000 genomes]
rs4241622	0.91[EUR][1000 genomes]
rs57455423	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67045362	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010714	chr4:78742505-78991030	Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv516836	chr4:78748977-78981919	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv594704	chr4:78748977-78981919	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv461562	chr4:78757015-78981919	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv461563	chr4:78757015-78981919	Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv594705	chr4:78757015-78981919	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	nsv4396	chr4:78935347-78980705	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34237418	SCARB2	cis	cerebellum	SCAN
rs34237418	FRAS1	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78977000-78979200	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr4:78977000-78980800	Active TSS	Left Ventricle	heart
3	chr4:78977000-78981200	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr4:78977200-78979200	Active TSS	Rectal Smooth Muscle	rectum
5	chr4:78977200-78980800	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr4:78977200-78980800	Active TSS	Psoas Muscle	Psoas
7	chr4:78977200-78981000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:78977200-78981000	Active TSS	Brain Angular Gyrus	brain
9	chr4:78977200-78981000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:78977200-78981000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr4:78977200-78981000	Active TSS	Right Ventricle	heart
12	chr4:78977200-78981000	Active TSS	A549	lung
13	chr4:78977200-78981200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:78977200-78981400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr4:78977400-78979200	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr4:78977400-78979200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:78977400-78979400	Active TSS	Colon Smooth Muscle	Colon
18	chr4:78977400-78979800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
19	chr4:78977400-78980200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
20	chr4:78977400-78980800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:78977400-78980800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:78977400-78980800	Active TSS	Aorta	Aorta
23	chr4:78977400-78980800	Active TSS	Fetal Heart	heart
24	chr4:78977400-78980800	Active TSS	Hela-S3	cervix
25	chr4:78977400-78981000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:78977400-78981000	Active TSS	HSMMtube	muscle
27	chr4:78977400-78981600	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr4:78977400-78982000	Active TSS	H1 Cell Line	embryonic stem cell
29	chr4:78977600-78979600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
30	chr4:78977600-78979800	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
31	chr4:78977600-78980000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:78977600-78980000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:78977600-78980200	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
34	chr4:78977600-78980200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
35	chr4:78977600-78980600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
36	chr4:78977600-78980600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
37	chr4:78977600-78980600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
38	chr4:78977600-78980600	Active TSS	Gastric	stomach
39	chr4:78977600-78980600	Bivalent/Poised TSS	HepG2	liver
40	chr4:78977600-78980600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
41	chr4:78977600-78980800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:78977600-78980800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
43	chr4:78977600-78981000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:78977600-78981000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:78977600-78981000	Active TSS	Fetal Intestine Large	intestine
46	chr4:78977600-78981000	Active TSS	Fetal Intestine Small	intestine
47	chr4:78977600-78981200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:78977600-78981200	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr4:78977600-78981200	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr4:78977600-78981600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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