Variant report

Variant	rs11204914
Chromosome Location	chr1:151881093-151881094
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151861522..151872673-chr1:151876647..151885029,20	MCF-7	breast:
2	chr1:151879069..151881570-chr1:151943407..151945574,2	K562	blood:
3	chr1:151761461..151764001-chr1:151879304..151881821,2	K562	blood:
4	chr1:151879131..151885542-chr1:151961269..151968730,13	MCF-7	breast:
5	chr1:151878724..151881573-chr1:151882113..151884102,2	MCF-7	breast:
6	chr1:151877897..151883557-chr1:152019456..152022411,7	K562	blood:
7	chr1:151880209..151887387-chr1:151961986..151968084,15	MCF-7	breast:
8	chr1:151880619..151883226-chr1:151961289..151965303,4	K562	blood:
9	chr1:151842661..151844582-chr1:151879754..151881730,2	K562	blood:
10	chr1:151879353..151883785-chr1:152005989..152009719,8	K562	blood:
11	chr1:151879656..151883388-chr1:152007614..152010954,7	K562	blood:
12	chr1:151856579..151858762-chr1:151880024..151881671,2	MCF-7	breast:
13	chr1:151822270..151824943-chr1:151880171..151881846,2	MCF-7	breast:
14	chr1:151861954..151864936-chr1:151880646..151882539,4	MCF-7	breast:
15	chr1:151880725..151882299-chr1:151990398..151992995,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OAZ3-12	chr1:151880530-151881159	expReg_chr1_16747_+

No data

Variant related genes	Relation type
ENSG00000229021	Chromatin interaction
ENSG00000203288	Chromatin interaction
ENSG00000196407	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000240667	Chromatin interaction
ENSG00000197747	Chromatin interaction
ENSG00000159445	Chromatin interaction
ENSG00000182134	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1038747	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1060870	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10788817	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10788818	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10788820	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10888445	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11204915	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11589720	0.86[ASN][1000 genomes]
rs12067594	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12116923	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12562586	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13320	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1387833	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1490189	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1907040	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2130525	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2279501	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2279502	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2338201	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2338209	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2932565	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2932576	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2932577	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2932579	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2932581	0.84[ASN][1000 genomes]
rs2932583	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2932586	0.87[ASN][1000 genomes]
rs2999506	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2999508	0.84[ASN][1000 genomes]
rs2999512	0.84[ASN][1000 genomes]
rs2999541	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2999542	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2999544	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2999545	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2999546	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3007670	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3007685	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3007691	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3007711	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4845409	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4845713	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6685187	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6698740	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7523082	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7541453	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7542137	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9435963	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9435964	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9943281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547852	chr1:151843044-151955230	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11204914	THEM4	Cis_1M	lymphoblastoid	RTeQTL
rs11204914	S100A10	Cis_1M	lymphoblastoid	RTeQTL
rs11204914	THEM4	cis	multi-tissue	Pritchard
rs11204914	THEM4	cis	Esophagus Muscularis	GTEx
rs11204914	THEM4	cis	Nerve Tibial	GTEx

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151831000-151881400	Weak transcription	Ovary	ovary
2	chr1:151844400-151881200	Weak transcription	Aorta	Aorta
3	chr1:151864800-151881400	Weak transcription	Brain Substantia Nigra	brain
4	chr1:151876600-151881400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:151878200-151881200	Weak transcription	Fetal Heart	heart
6	chr1:151879000-151881600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:151879400-151881400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:151879800-151881600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:151880200-151881400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:151880200-151881600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:151880200-151882800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:151880400-151881200	Enhancers	Colon Smooth Muscle	Colon
13	chr1:151880400-151881200	Enhancers	Right Ventricle	heart
14	chr1:151880400-151883000	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr1:151880600-151881200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:151880600-151881200	Enhancers	Liver	Liver
17	chr1:151880600-151881200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr1:151880600-151881400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:151880600-151881400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr1:151880600-151881400	Weak transcription	Fetal Stomach	stomach
21	chr1:151880600-151881600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:151880600-151881600	Weak transcription	Gastric	stomach
23	chr1:151880600-151881600	Weak transcription	Left Ventricle	heart
24	chr1:151880600-151882400	Active TSS	Fetal Kidney	kidney
25	chr1:151880600-151882600	Active TSS	HepG2	liver
26	chr1:151880600-151883400	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr1:151880800-151881200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:151880800-151881200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:151880800-151881200	Enhancers	Brain Cingulate Gyrus	brain
30	chr1:151880800-151881200	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:151880800-151881200	Enhancers	Right Atrium	heart
32	chr1:151880800-151881200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr1:151880800-151881200	Enhancers	NH-A	brain
34	chr1:151880800-151881200	Enhancers	NHLF	lung
35	chr1:151880800-151881400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:151880800-151881400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:151880800-151881400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr1:151880800-151881400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr1:151880800-151881400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:151880800-151881400	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr1:151880800-151881400	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr1:151880800-151881600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr1:151880800-151881600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr1:151880800-151881600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr1:151880800-151881600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr1:151880800-151881800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:151880800-151881800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:151880800-151881800	Flanking Active TSS	HUVEC	blood vessel
49	chr1:151880800-151882200	Active TSS	HMEC	breast
50	chr1:151880800-151882400	Active TSS	NHEK	skin

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