Variant report

Variant	rs13111887
Chromosome Location	chr4:6946572-6946573
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6910492..6915918-chr4:6946437..6950272,7	K562	blood:
2	chr4:6944446..6947031-chr4:6951567..6953686,2	K562	blood:
3	chr4:6918951..6920987-chr4:6946551..6948090,2	K562	blood:
4	chr4:6917668..6920987-chr4:6945472..6948090,3	K562	blood:
5	chr4:6941810..6943426-chr4:6944150..6946769,2	K562	blood:
6	chr4:6909142..6912159-chr4:6946034..6948699,3	K562	blood:
7	chr4:6945003..6947109-chr4:6955850..6957643,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0232-3	chr4:6945338-6947476	NONHSAT095027

No data

Variant related genes	Relation type
ENSG00000132405	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10012590	0.86[ASN][1000 genomes]
rs10025310	0.86[ASN][1000 genomes]
rs10937772	0.88[ASN][1000 genomes]
rs11732898	0.81[ASN][1000 genomes]
rs11938701	0.86[ASN][1000 genomes]
rs11944897	0.86[ASN][1000 genomes]
rs12503027	0.86[ASN][1000 genomes]
rs12510715	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12511796	0.90[EUR][1000 genomes]
rs12512484	0.80[ASN][1000 genomes]
rs13107989	0.86[ASN][1000 genomes]
rs13108082	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13115245	0.80[ASN][1000 genomes]
rs13122119	0.93[ASN][1000 genomes]
rs13144485	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13148395	0.86[ASN][1000 genomes]
rs13149411	0.93[ASN][1000 genomes]
rs13149923	0.87[ASN][1000 genomes]
rs2301817	0.86[ASN][1000 genomes]
rs2301818	0.80[ASN][1000 genomes]
rs2301819	0.80[ASN][1000 genomes]
rs3188939	0.86[ASN][1000 genomes]
rs34221933	0.86[ASN][1000 genomes]
rs34335938	0.93[ASN][1000 genomes]
rs34379427	0.80[ASN][1000 genomes]
rs34463709	0.93[ASN][1000 genomes]
rs34481892	0.93[ASN][1000 genomes]
rs34860182	0.80[ASN][1000 genomes]
rs34953654	0.81[ASN][1000 genomes]
rs34959511	0.93[ASN][1000 genomes]
rs34990775	0.80[ASN][1000 genomes]
rs35170004	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35680216	0.87[ASN][1000 genomes]
rs3894945	0.86[ASN][1000 genomes]
rs4234788	1.00[ASN][1000 genomes]
rs4234791	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4234793	0.86[ASN][1000 genomes]
rs4296677	0.88[ASN][1000 genomes]
rs4428285	0.83[ASN][1000 genomes]
rs4458452	0.88[ASN][1000 genomes]
rs4544710	0.86[ASN][1000 genomes]
rs4645214	0.88[ASN][1000 genomes]
rs4689056	0.80[ASN][1000 genomes]
rs4689059	0.83[ASN][1000 genomes]
rs4689060	0.83[ASN][1000 genomes]
rs4689560	0.80[ASN][1000 genomes]
rs4689563	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4689564	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4689565	0.93[ASN][1000 genomes]
rs4689566	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4689567	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4689568	0.81[ASN][1000 genomes]
rs4689575	0.86[ASN][1000 genomes]
rs4689579	0.80[ASN][1000 genomes]
rs62289166	0.86[ASN][1000 genomes]
rs66530709	0.93[ASN][1000 genomes]
rs66640699	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66841627	0.87[ASN][1000 genomes]
rs66931928	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66992702	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6811496	0.86[ASN][1000 genomes]
rs6816660	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6818744	0.80[ASN][1000 genomes]
rs6834102	0.86[ASN][1000 genomes]
rs6840780	0.86[ASN][1000 genomes]
rs6854776	0.86[ASN][1000 genomes]
rs7655773	0.86[ASN][1000 genomes]
rs7661952	0.86[ASN][1000 genomes]
rs7673901	0.86[ASN][1000 genomes]
rs7675524	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7685667	0.86[ASN][1000 genomes]
rs8180337	0.83[ASN][1000 genomes]
rs9291126	0.87[ASN][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	nsv878529	chr4:6883012-6983677	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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	30 gene(s)	inside rSNPs	diseases
2	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6928000-6969600	Weak transcription	Aorta	Aorta
2	chr4:6939000-6946800	Enhancers	Adipose Nuclei	Adipose
3	chr4:6939200-6947000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:6939200-6947200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr4:6939200-6948000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr4:6939600-6947000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:6941400-6947200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr4:6941600-6946800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:6941600-6947000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr4:6941800-6947000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:6941800-6947000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:6941800-6947800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:6942000-6946600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr4:6942000-6948000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr4:6942200-6947400	Enhancers	Fetal Intestine Large	intestine
16	chr4:6942400-6947000	Enhancers	Small Intestine	intestine
17	chr4:6942600-6947000	Enhancers	Brain Anterior Caudate	brain
18	chr4:6943000-6946800	Enhancers	Liver	Liver
19	chr4:6943200-6946800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr4:6943200-6947000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:6943200-6947200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr4:6943400-6946600	Enhancers	Fetal Brain Male	brain
23	chr4:6943800-6955400	Weak transcription	Brain Substantia Nigra	brain
24	chr4:6944200-6947200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:6944400-6947000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:6944400-6949800	Weak transcription	Fetal Lung	lung
27	chr4:6944600-6946800	Enhancers	NHDF-Ad	bronchial
28	chr4:6944600-6947000	Enhancers	A549	lung
29	chr4:6944600-6947200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr4:6944600-6947800	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr4:6944800-6946800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr4:6944800-6947400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:6944800-6955400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:6945000-6947200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr4:6945000-6949000	Genic enhancers	Fetal Intestine Small	intestine
36	chr4:6945000-6949600	Weak transcription	Fetal Kidney	kidney
37	chr4:6945000-6955400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:6945000-6970200	Weak transcription	Hela-S3	cervix
39	chr4:6945200-6946800	Enhancers	Primary B cells from cord blood	blood
40	chr4:6945200-6946800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr4:6945200-6947000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr4:6945200-6955600	Weak transcription	Fetal Brain Female	brain
43	chr4:6945400-6946600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr4:6945400-6946800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:6945400-6947000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr4:6945400-6947000	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr4:6945400-6953600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:6945400-6955400	Weak transcription	Fetal Stomach	stomach
49	chr4:6945600-6947000	Enhancers	Colonic Mucosa	Colon
50	chr4:6945600-6949800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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