Variant report

Variant	rs6467154
Chromosome Location	chr7:127623840-127623841
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127621460..127624086-chr7:127655580..127657464,2	MCF-7	breast:
2	chr7:127385334..127388251-chr7:127622163..127625030,2	K562	blood:
3	chr7:127613884..127616731-chr7:127622987..127625650,2	MCF-7	breast:
4	chr7:127622847..127627413-chr7:127635236..127639415,6	K562	blood:
5	chr7:127614080..127617711-chr7:127619804..127624160,5	K562	blood:
6	chr7:127622034..127626432-chr7:127627902..127631016,5	K562	blood:

Variant related genes	Relation type
ENSG00000197157	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1019578	1.00[EUR][1000 genomes]
rs10228031	1.00[EUR][1000 genomes]
rs1025075	1.00[EUR][1000 genomes]
rs10487503	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1073155	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12536253	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1440973	1.00[EUR][1000 genomes]
rs1468702	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17133046	1.00[EUR][1000 genomes]
rs17151515	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17151567	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151575	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151629	1.00[EUR][1000 genomes]
rs17151639	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17151650	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151837	1.00[EUR][1000 genomes]
rs1833146	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1966517	1.00[EUR][1000 genomes]
rs2402873	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs325438	1.00[EUR][1000 genomes]
rs325439	1.00[EUR][1000 genomes]
rs325443	1.00[EUR][1000 genomes]
rs325448	1.00[EUR][1000 genomes]
rs325449	1.00[EUR][1000 genomes]
rs325450	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3757772	1.00[JPT][hapmap]
rs3808056	0.82[LWK][hapmap]
rs4728078	1.00[EUR][1000 genomes]
rs4728082	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4728084	1.00[GIH][hapmap]
rs4728085	1.00[GIH][hapmap]
rs4731379	1.00[EUR][1000 genomes]
rs4731382	1.00[EUR][1000 genomes]
rs4731383	1.00[EUR][1000 genomes]
rs4731384	1.00[EUR][1000 genomes]
rs4731390	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4731391	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58395975	1.00[EUR][1000 genomes]
rs61743021	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467146	1.00[EUR][1000 genomes]
rs6467149	1.00[EUR][1000 genomes]
rs6946590	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950211	1.00[EUR][1000 genomes]
rs6952123	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6952734	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953530	1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6964714	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6972398	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6972816	1.00[ASN][1000 genomes]
rs6975274	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976145	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73721253	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73721258	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73721261	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73721264	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7783560	1.00[EUR][1000 genomes]
rs7791000	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794303	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7794328	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7804310	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7809182	1.00[CHD][hapmap];1.00[JPT][hapmap]

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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127583200-127630600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:127587400-127635200	Weak transcription	NHDF-Ad	bronchial
3	chr7:127600600-127630600	Weak transcription	Adipose Nuclei	Adipose
4	chr7:127603000-127627000	Weak transcription	Aorta	Aorta
5	chr7:127607400-127624000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr7:127607800-127626800	Weak transcription	Ovary	ovary
7	chr7:127609200-127630800	Weak transcription	NH-A	brain
8	chr7:127609400-127635200	Weak transcription	Fetal Kidney	kidney
9	chr7:127614000-127631000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:127614400-127630600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:127615800-127625000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:127616200-127624600	Weak transcription	Right Ventricle	heart
13	chr7:127616400-127624800	Weak transcription	Left Ventricle	heart
14	chr7:127616800-127625000	Weak transcription	Lung	lung
15	chr7:127617000-127628800	Weak transcription	Spleen	Spleen
16	chr7:127617200-127625200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:127617200-127625800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:127617200-127627000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:127617200-127628400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:127617200-127630600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:127617200-127631000	Weak transcription	Esophagus	oesophagus
22	chr7:127617400-127626000	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:127617400-127626600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr7:127617400-127626800	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:127617400-127627400	Weak transcription	Fetal Brain Male	brain
26	chr7:127617600-127626000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:127617600-127627200	Weak transcription	Brain Anterior Caudate	brain
28	chr7:127617600-127640600	Weak transcription	Brain Germinal Matrix	brain
29	chr7:127618200-127626800	Weak transcription	Fetal Lung	lung
30	chr7:127618200-127633400	Weak transcription	Hela-S3	cervix
31	chr7:127618600-127624000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr7:127618600-127627000	Weak transcription	Osteobl	bone
33	chr7:127618600-127627600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:127618600-127631200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr7:127618800-127637800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:127619000-127630600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:127619400-127631000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:127619400-127631000	Weak transcription	A549	lung
39	chr7:127619600-127624000	Weak transcription	GM12878-XiMat	blood
40	chr7:127619600-127624800	Weak transcription	HepG2	liver
41	chr7:127619600-127625000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:127619600-127625000	Weak transcription	Fetal Intestine Small	intestine
43	chr7:127619600-127625200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:127619600-127625600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr7:127619600-127625800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:127619600-127626200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr7:127619600-127626600	Weak transcription	Fetal Intestine Large	intestine
48	chr7:127619600-127627000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:127619600-127627000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr7:127619600-127627000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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