Variant report

Variant	rs34249203
Chromosome Location	chr3:47875324-47875325
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47873536..47875559-chr3:48191736..48194650,2	MCF-7	breast:
2	chr3:47871108..47875546-chr3:47876904..47881221,5	K562	blood:
3	chr3:47871261..47873727-chr3:47874822..47877449,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1061003	0.84[ASN][1000 genomes]
rs11130150	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1137524	0.80[ASN][1000 genomes]
rs11708849	0.80[EUR][1000 genomes]
rs11710199	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13077230	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13079407	0.82[EUR][1000 genomes]
rs13086149	0.80[EUR][1000 genomes]
rs1486915	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1684942	0.82[ASN][1000 genomes]
rs17290490	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2101398	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2631721	0.83[ASN][1000 genomes]
rs319682	0.82[ASN][1000 genomes]
rs319684	0.80[ASN][1000 genomes]
rs319685	0.80[ASN][1000 genomes]
rs319686	0.80[ASN][1000 genomes]
rs319689	0.80[ASN][1000 genomes]
rs319692	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs319693	0.89[EUR][1000 genomes]
rs319694	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs319695	0.81[EUR][1000 genomes]
rs319696	0.80[ASN][1000 genomes]
rs34025851	0.80[ASN][1000 genomes]
rs34569417	0.83[EUR][1000 genomes]
rs34906469	0.80[EUR][1000 genomes]
rs35582375	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35698005	0.81[EUR][1000 genomes]
rs3732529	0.80[ASN][1000 genomes]
rs3772399	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3888	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3915654	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4858860	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4858863	0.85[EUR][1000 genomes]
rs4858871	0.80[ASN][1000 genomes]
rs60446735	0.80[ASN][1000 genomes]
rs61181421	0.81[EUR][1000 genomes]
rs62263575	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6772396	0.80[ASN][1000 genomes]
rs6776963	0.80[EUR][1000 genomes]
rs6792350	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72906488	0.81[EUR][1000 genomes]
rs7629850	0.85[EUR][1000 genomes]
rs777015	0.80[ASN][1000 genomes]
rs796566	0.80[ASN][1000 genomes]
rs800762	0.82[ASN][1000 genomes]
rs810334	0.80[ASN][1000 genomes]
rs9850154	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834679	chr3:47749475-47924006	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
2	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs34249203	DHX30	Cis_1M	lymphoblastoid	RTeQTL
rs34249203	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs34249203	MAP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47867800-47882000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:47867800-47882000	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:47867800-47882400	Weak transcription	Small Intestine	intestine
4	chr3:47867800-47882400	Weak transcription	Stomach Mucosa	stomach
5	chr3:47867800-47882800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:47867800-47899200	Strong transcription	Fetal Brain Female	brain
7	chr3:47867800-47918800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:47868000-47882200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr3:47868000-47882800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr3:47868000-47903000	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:47868000-47915200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:47868200-47878600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:47868200-47879400	Weak transcription	Right Atrium	heart
14	chr3:47868200-47882000	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:47868200-47882800	Strong transcription	Stomach Smooth Muscle	stomach
16	chr3:47868200-47892200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:47868200-47902400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr3:47868400-47876400	Strong transcription	Brain Substantia Nigra	brain
19	chr3:47868400-47881800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr3:47868400-47882000	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr3:47868400-47882000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr3:47868400-47884400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:47868400-47891000	Strong transcription	Fetal Muscle Leg	muscle
24	chr3:47868400-47891200	Strong transcription	Fetal Muscle Trunk	muscle
25	chr3:47868400-47891400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:47868400-47899200	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr3:47868400-47901200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr3:47868400-47902400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:47868400-47903000	Strong transcription	Placenta	Placenta
30	chr3:47868400-47903400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:47868400-47903400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:47868400-47916400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:47868400-47919000	Strong transcription	Fetal Stomach	stomach
34	chr3:47868600-47876200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:47868600-47879400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:47868600-47880800	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr3:47868600-47882400	Weak transcription	Fetal Heart	heart
38	chr3:47868600-47893600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:47868600-47899000	Strong transcription	Thymus	Thymus
40	chr3:47868600-47899200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr3:47868600-47899200	Strong transcription	Primary T cells from cord blood	blood
42	chr3:47868600-47899400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr3:47868600-47901800	Strong transcription	Fetal Intestine Large	intestine
44	chr3:47868600-47902200	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr3:47868600-47902600	Strong transcription	Liver	Liver
46	chr3:47868600-47902800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr3:47868600-47912200	Strong transcription	Fetal Intestine Small	intestine
48	chr3:47868800-47875600	Strong transcription	HSMMtube	muscle
49	chr3:47868800-47876400	Strong transcription	Left Ventricle	heart
50	chr3:47868800-47876400	Strong transcription	Skeletal Muscle Male	skeletal muscle

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