Variant report

Variant	rs4282199
Chromosome Location	chr4:147099414-147099415
allele	A/T
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	CEBPB	chr4:147099288-147099598	HepG2	liver:	n/a	n/a
2	CEBPB	chr4:147099300-147099608	K562	blood:	n/a	n/a
3	CEBPB	chr4:147099279-147099596	K562	blood:	n/a	n/a
4	POLR2A	chr4:147099217-147099721	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:147099369..147101389-chr4:147104400..147106028,2	MCF-7	breast:
2	chr4:147096162..147099903-chr4:147161380..147165203,4	MCF-7	breast:
3	chr4:147098952..147101592-chr4:147130358..147132148,2	K562	blood:

Variant related genes	Relation type
LSM6	TF binding region
ENSG00000251010	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10519776	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1079476	0.98[ASN][1000 genomes]
rs11100919	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11721367	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11721873	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11723069	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11724307	0.80[EUR][1000 genomes]
rs11728525	0.80[EUR][1000 genomes]
rs11728609	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11729787	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11730306	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11733347	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12152657	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12152692	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12152709	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17021106	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17021186	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17021217	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17756234	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17757522	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17757685	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17757715	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17758092	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17758396	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17758420	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17814023	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17814065	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17814503	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17814598	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1865531	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1865532	0.81[EUR][1000 genomes]
rs2068009	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2115796	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2115797	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2163171	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2164280	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28420466	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3733458	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3733459	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3733460	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3756081	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756082	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756083	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775498	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3815967	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55736910	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56174047	0.80[EUR][1000 genomes]
rs56279747	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56333123	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56393662	0.98[ASN][1000 genomes]
rs62326797	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62326801	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62326802	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62326804	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62326848	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537401	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537402	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6537403	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6815527	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6816161	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6820462	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6821066	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6821444	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6821479	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6821863	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6824313	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838458	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6839123	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6839141	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6844381	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6856647	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6858813	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72727944	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72727952	0.98[ASN][1000 genomes]
rs7657269	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7665079	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7745	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs919482	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs919483	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461674	chr4:147047072-147143572	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv595650	chr4:147047072-147143572	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1018859	chr4:147055618-147138397	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4282199	RP11-6L6.2	cis	Esophagus Muscularis	GTEx
rs4282199	RP11-6L6.2	cis	Skin Sun Exposed Lower leg	GTEx
rs4282199	RP11-6L6.2	cis	Nerve Tibial	GTEx
rs4282199	RP11-6L6.2	cis	lung	GTEx
rs4282199	RP11-6L6.2	cis	Artery Tibial	GTEx
rs4282199	RP11-6L6.2	cis	Thyroid	GTEx
rs4282199	RP11-6L6.2	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147097600-147108800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:147097800-147099600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr4:147097800-147099600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr4:147097800-147101400	Enhancers	Primary B cells from peripheral blood	blood
5	chr4:147097800-147104200	Weak transcription	Placenta	Placenta
6	chr4:147097800-147104600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:147097800-147108600	Weak transcription	HSMMtube	muscle
8	chr4:147097800-147108800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:147097800-147108800	Weak transcription	Esophagus	oesophagus
10	chr4:147097800-147111000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:147097800-147115400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:147098000-147099600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:147098000-147099600	Enhancers	Pancreas	Pancrea
14	chr4:147098000-147102200	Enhancers	Fetal Heart	heart
15	chr4:147098000-147102800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:147098200-147099600	Enhancers	Small Intestine	intestine
17	chr4:147098200-147101000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr4:147098200-147101200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr4:147098200-147102000	Enhancers	Brain Hippocampus Middle	brain
20	chr4:147098400-147099600	Enhancers	Colon Smooth Muscle	Colon
21	chr4:147098400-147099600	Enhancers	Fetal Intestine Small	intestine
22	chr4:147098400-147099600	Enhancers	Ovary	ovary
23	chr4:147098400-147099600	Enhancers	Right Ventricle	heart
24	chr4:147098400-147099800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:147098400-147099800	Enhancers	Liver	Liver
26	chr4:147098400-147099800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr4:147098400-147099800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr4:147098400-147100000	Enhancers	Brain Cingulate Gyrus	brain
29	chr4:147098400-147100200	Enhancers	Primary T cells fromperipheralblood	blood
30	chr4:147098400-147100600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr4:147098400-147100600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr4:147098400-147100600	Weak transcription	Fetal Brain Female	brain
33	chr4:147098400-147100800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr4:147098400-147100800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr4:147098400-147100800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:147098400-147100800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:147098400-147100800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr4:147098400-147101000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:147098400-147101000	Enhancers	Brain Anterior Caudate	brain
40	chr4:147098400-147101200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr4:147098400-147101400	Enhancers	HepG2	liver
42	chr4:147098400-147101600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr4:147098400-147101600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:147098400-147102000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr4:147098400-147102200	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr4:147098400-147102400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr4:147098400-147102600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr4:147098400-147103200	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr4:147098400-147103600	Weak transcription	A549	lung
50	chr4:147098400-147104200	Weak transcription	Rectal Mucosa Donor 31	rectum

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