Variant report

Variant	rs9291121
Chromosome Location	chr4:6928358-6928359
allele	A/C
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6926884..6928623-chr4:6939746..6942582,2	MCF-7	breast:
2	chr4:6917201..6921579-chr4:6924492..6930074,6	MCF-7	breast:
3	chr4:6909963..6912664-chr4:6925024..6930247,5	MCF-7	breast:
4	chr4:6926678..6929634-chr4:6988002..6989801,2	K562	blood:
5	chr4:6927493..6929739-chr4:6946981..6949624,2	K562	blood:
6	chr4:6928082..6930342-chr4:6930567..6933330,2	MCF-7	breast:
7	chr4:6927079..6929497-chr4:6940863..6942665,2	K562	blood:
8	chr4:6927466..6930094-chr4:7020098..7022400,2	MCF-7	breast:
9	chr4:6926678..6930436-chr4:6987384..6989801,3	K562	blood:
10	chr4:6925139..6926793-chr4:6927424..6929653,2	K562	blood:
11	chr4:6927079..6929042-chr4:6940771..6942363,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000132405	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10009332	0.82[ASN][1000 genomes]
rs10012305	0.89[ASN][1000 genomes]
rs10013211	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10015163	0.85[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs10019900	0.88[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10804990	0.95[JPT][hapmap]
rs10937762	0.84[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs10937763	0.95[JPT][hapmap]
rs10937766	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10937768	0.95[JPT][hapmap];0.82[YRI][hapmap]
rs10937769	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10937771	0.82[ASN][1000 genomes]
rs11723686	0.82[ASN][1000 genomes]
rs11728984	1.00[JPT][hapmap]
rs11731681	0.80[ASN][1000 genomes]
rs11732389	0.80[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11942739	0.86[ASN][1000 genomes]
rs12119	0.81[CHD][hapmap]
rs12646620	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12646621	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13103361	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13114976	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs13435015	0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs17742611	0.86[JPT][hapmap]
rs2301820	0.86[JPT][hapmap]
rs28392702	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28463777	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28523495	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28601619	0.81[ASN][1000 genomes]
rs28703753	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34760356	0.86[ASN][1000 genomes]
rs35296019	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35490604	0.81[ASN][1000 genomes]
rs3857170	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs3892145	0.84[CHD][hapmap]
rs41516949	0.80[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs4234790	0.82[ASN][1000 genomes]
rs4290891	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4315786	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs4346651	0.95[JPT][hapmap]
rs4432749	0.90[JPT][hapmap]
rs4484301	0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4513567	0.83[ASN][1000 genomes]
rs4608812	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4689055	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4689558	0.85[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs4689562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6446550	0.80[ASN][1000 genomes]
rs6446551	0.80[ASN][1000 genomes]
rs6446552	0.80[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6446553	0.80[CHB][hapmap];1.00[JPT][hapmap]
rs6831368	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs6834007	0.80[ASN][1000 genomes]
rs6848114	0.82[CHD][hapmap];1.00[JPT][hapmap]
rs6852468	0.94[ASN][1000 genomes]
rs7657702	0.85[ASN][1000 genomes]
rs7668186	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7668673	0.85[JPT][hapmap]
rs7670187	0.81[CHD][hapmap];0.88[GIH][hapmap];0.84[TSI][hapmap]
rs7689337	0.80[ASN][1000 genomes]
rs9291122	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9291123	0.83[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.85[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9790586	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs9999127	0.82[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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6919600-6942200	Weak transcription	Hela-S3	cervix
2	chr4:6920200-6939600	Weak transcription	HUVEC	blood vessel
3	chr4:6920400-6928600	Weak transcription	Psoas Muscle	Psoas
4	chr4:6920400-6931000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:6923200-6930800	Weak transcription	Stomach Mucosa	stomach
6	chr4:6924400-6930600	Weak transcription	Fetal Brain Male	brain
7	chr4:6924600-6928600	Weak transcription	Osteobl	bone
8	chr4:6924600-6929000	Strong transcription	Fetal Stomach	stomach
9	chr4:6924800-6928400	Strong transcription	Stomach Smooth Muscle	stomach
10	chr4:6925000-6928800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:6925200-6928400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:6925400-6928800	Genic enhancers	Spleen	Spleen
13	chr4:6925600-6928400	Genic enhancers	HepG2	liver
14	chr4:6925800-6931400	Weak transcription	HSMMtube	muscle
15	chr4:6926000-6928600	Weak transcription	A549	lung
16	chr4:6926000-6930600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr4:6926200-6928400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:6926200-6930800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:6926200-6942000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:6926200-6942600	Weak transcription	NHEK	skin
21	chr4:6926200-6943200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:6926400-6928400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr4:6926400-6928600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:6926400-6928600	Weak transcription	NHLF	lung
25	chr4:6926600-6928400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:6926600-6928400	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr4:6926600-6928600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr4:6926600-6928600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:6926600-6928600	Weak transcription	Left Ventricle	heart
30	chr4:6926600-6928800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:6926600-6929600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr4:6926600-6930800	Weak transcription	Brain Angular Gyrus	brain
33	chr4:6926600-6930800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr4:6926600-6931000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr4:6926600-6932200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:6926600-6933400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr4:6926600-6935000	Enhancers	Liver	Liver
38	chr4:6926600-6939200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:6926800-6929600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:6926800-6930600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr4:6926800-6932200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr4:6927000-6928600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr4:6927000-6928600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr4:6927000-6928600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:6927000-6928600	Weak transcription	Ovary	ovary
46	chr4:6927000-6929200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr4:6927000-6930600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:6927200-6928800	Genic enhancers	GM12878-XiMat	blood
49	chr4:6927200-6929000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
50	chr4:6927200-6932200	Enhancers	Adipose Nuclei	Adipose

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