Variant report

Variant	rs7431567
Chromosome Location	chr3:48027832-48027833
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48027401..48029949-chr3:48129327..48132216,3	K562	blood:
2	chr3:47896749..47899036-chr3:48026165..48028320,2	K562	blood:

Variant related genes	Relation type
ENSG00000047849	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1060407	0.81[AMR][1000 genomes]
rs11707679	0.81[AMR][1000 genomes]
rs11711129	0.83[AMR][1000 genomes]
rs13093830	0.81[AMR][1000 genomes]
rs319681	0.81[AMR][1000 genomes]
rs35199727	0.81[AMR][1000 genomes]
rs35314534	0.94[AMR][1000 genomes]
rs4296617	0.89[AMR][1000 genomes]
rs4599334	0.85[AMR][1000 genomes]
rs4858882	0.82[AMR][1000 genomes]
rs4858887	0.89[AMR][1000 genomes]
rs6442091	0.91[AMR][1000 genomes]
rs6442094	0.89[AMR][1000 genomes]
rs6442096	0.87[AMR][1000 genomes]
rs6442101	0.84[AMR][1000 genomes]
rs6766641	0.81[AMR][1000 genomes]
rs6768318	0.83[AMR][1000 genomes]
rs6803741	0.87[AMR][1000 genomes]
rs7618163	0.82[AMR][1000 genomes]
rs7642590	0.84[AMR][1000 genomes]
rs777017	0.81[AMR][1000 genomes]
rs9825114	0.81[AMR][1000 genomes]
rs9828959	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006560	chr3:47867461-48037031	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
2	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1001056	chr3:47912342-48223849	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv1835684	chr3:47912703-48123540	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1827272	chr3:47912703-48260968	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1000817	chr3:47927730-48032401	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
9	nsv1012828	chr3:47996472-48192862	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
11	esv3335628	chr3:48010796-48074001	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv876760	chr3:48019258-48197614	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs7431567	DHX30	Cis_1M	lymphoblastoid	RTeQTL
rs7431567	MRPS18AP1	cis	Nerve Tibial	GTEx
rs7431567	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs7431567	ZNF589	cis	Artery Tibial	GTEx
rs7431567	MRPS18AP1	cis	Thyroid	GTEx
rs7431567	NME6	cis	Esophagus Muscularis	GTEx
rs7431567	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs7431567	MRPS18AP1	cis	Artery Tibial	GTEx
rs7431567	ZNF589	cis	Whole Blood	GTEx
rs7431567	CDC25A	cis	Thyroid	GTEx
rs7431567	ZNF589	cis	Nerve Tibial	GTEx

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47998200-48031400	Weak transcription	Brain Germinal Matrix	brain
2	chr3:48003400-48029000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:48003800-48028400	Weak transcription	Fetal Kidney	kidney
4	chr3:48003800-48032800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr3:48003800-48034400	Weak transcription	Fetal Lung	lung
6	chr3:48003800-48034600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:48003800-48037200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr3:48003800-48039800	Weak transcription	Brain Angular Gyrus	brain
9	chr3:48003800-48047200	Weak transcription	Lung	lung
10	chr3:48003800-48060600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:48004000-48031400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:48004000-48031400	Weak transcription	Fetal Intestine Small	intestine
13	chr3:48004000-48037200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:48004000-48037200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr3:48004000-48037400	Weak transcription	Right Ventricle	heart
16	chr3:48004000-48043600	Weak transcription	Small Intestine	intestine
17	chr3:48004000-48045400	Weak transcription	Placenta	Placenta
18	chr3:48004000-48046200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:48004000-48050600	Weak transcription	Pancreas	Pancrea
20	chr3:48004200-48028400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr3:48004600-48031000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr3:48004600-48035400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr3:48004800-48031200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr3:48005000-48031200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr3:48005000-48035800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr3:48005200-48031200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr3:48005200-48037200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr3:48005800-48032200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:48007600-48031000	Weak transcription	Colon Smooth Muscle	Colon
30	chr3:48009600-48032800	Weak transcription	Fetal Stomach	stomach
31	chr3:48011800-48037400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:48013200-48034800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr3:48013400-48034600	Weak transcription	Primary T cells from cord blood	blood
34	chr3:48013400-48053400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr3:48013600-48036800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr3:48013600-48039400	Weak transcription	Fetal Brain Female	brain
37	chr3:48016600-48055800	Weak transcription	Esophagus	oesophagus
38	chr3:48017200-48035800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr3:48017400-48028600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:48018000-48028400	Weak transcription	Fetal Thymus	thymus
41	chr3:48018000-48034600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:48018000-48035000	Weak transcription	Left Ventricle	heart
43	chr3:48018000-48037200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr3:48018000-48057200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr3:48018200-48034600	Weak transcription	Fetal Intestine Large	intestine
46	chr3:48018200-48034800	Weak transcription	Dnd41	blood
47	chr3:48018200-48037200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr3:48018200-48037200	Weak transcription	HepG2	liver
49	chr3:48018600-48031200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr3:48018800-48034600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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