Variant report

Variant	rs2302467
Chromosome Location	chr4:15705039-15705040
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:15704439-15705084	HL-60	blood:	n/a	n/a
2	SPI1	chr4:15704371-15705052	HL-60	blood:	n/a	chr4:15704718-15704731
3	E2F6	chr4:15704499-15705041	A549	lung:	n/a	n/a
4	POLR2A	chr4:15704436-15705176	HL-60	blood:	n/a	n/a
5	REST	chr4:15704434-15705043	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:15655590..15657245-chr4:15703796..15706264,2	K562	blood:

Variant related genes	Relation type
BST1	TF binding region
ENSG00000118564	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1134634	0.84[CEU][hapmap];0.91[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
5	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv3345585	chr4:15704254-15707452	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3414958	chr4:15704254-15708452	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv822493	chr4:15705039-15706373	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2302467	FBXL5	Cis_1M	lymphoblastoid	RTeQTL
rs2302467	CC2D2A	cis	parietal	SCAN

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15697600-15723600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:15703200-15706600	Weak transcription	HepG2	liver
3	chr4:15703800-15705400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr4:15703800-15705600	Active TSS	Stomach Smooth Muscle	stomach
5	chr4:15704000-15705200	Enhancers	Fetal Brain Male	brain
6	chr4:15704000-15705400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:15704000-15705400	Active TSS	Fetal Kidney	kidney
8	chr4:15704200-15705200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:15704200-15705200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr4:15704200-15705200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr4:15704200-15705200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr4:15704200-15705200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:15704200-15705200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr4:15704200-15705200	Active TSS	Placenta Amnion	Placenta Amnion
15	chr4:15704200-15705200	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr4:15704200-15705200	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr4:15704200-15705200	Active TSS	NHDF-Ad	bronchial
18	chr4:15704200-15705400	Active TSS	A549	lung
19	chr4:15704200-15705400	Active TSS	NH-A	brain
20	chr4:15704200-15705600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:15704200-15705600	Active TSS	Rectal Smooth Muscle	rectum
22	chr4:15704200-15705800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:15704400-15705200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:15704400-15705200	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr4:15704400-15705200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr4:15704400-15705200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr4:15704400-15705200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr4:15704400-15705200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:15704400-15705200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:15704400-15705200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:15704400-15705200	Active TSS	Brain Cingulate Gyrus	brain
32	chr4:15704400-15705200	Active TSS	Brain Germinal Matrix	brain
33	chr4:15704400-15705200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr4:15704400-15705200	Active TSS	Brain Substantia Nigra	brain
35	chr4:15704400-15705200	Active TSS	Colonic Mucosa	Colon
36	chr4:15704400-15705200	Active TSS	Colon Smooth Muscle	Colon
37	chr4:15704400-15705200	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr4:15704400-15705200	Active TSS	Fetal Intestine Large	intestine
39	chr4:15704400-15705200	Active TSS	Fetal Stomach	stomach
40	chr4:15704400-15705200	Active TSS	Psoas Muscle	Psoas
41	chr4:15704400-15705200	Active TSS	Right Atrium	heart
42	chr4:15704400-15705200	Flanking Bivalent TSS/Enh	Dnd41	blood
43	chr4:15704400-15705400	Active TSS	Primary T cells from cord blood	blood
44	chr4:15704400-15705600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:15704400-15705600	Active TSS	Duodenum Mucosa	Duodenum
46	chr4:15704400-15705800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:15704600-15705200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:15704600-15705200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:15704600-15705200	Active TSS	Brain Angular Gyrus	brain
50	chr4:15704600-15705200	Active TSS	Brain Anterior Caudate	brain

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