Variant report

Variant	rs7791000
Chromosome Location	chr7:127627974-127627975
allele	A/G
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	GATA1	chr7:127626076-127629016	K562	blood:	n/a	chr7:127626858-127626865 chr7:127627084-127627101 chr7:127626286-127626293

No.	Distal block	Cell Line	Cell type
1	chr7:127627591..127629980-chr7:127636383..127638800,3	K562	blood:
2	chr7:127627877..127629726-chr7:127640099..127643709,3	K562	blood:
3	chr7:127626923..127628620-chr7:127629498..127632158,2	MCF-7	breast:

Variant related genes	Relation type
SND1	TF binding region
ENSG00000197157	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

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];0.95[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];0.83[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17133046	1.00[EUR][1000 genomes]
rs17151515	0.90[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];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]
rs17151575	0.89[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];0.92[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	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1966517	1.00[EUR][1000 genomes]
rs2402873	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[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	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3757772	1.00[JPT][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];0.97[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];0.97[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	0.94[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]
rs6467154	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]
rs6946590	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950211	1.00[EUR][1000 genomes]
rs6952123	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6952734	1.00[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];1.00[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	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6972816	1.00[ASN][1000 genomes]
rs6975274	0.99[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];0.99[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]
rs7794303	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7794328	0.91[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:4 , 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	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:124 , 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	chr7:127609200-127630800	Weak transcription	NH-A	brain
5	chr7:127609400-127635200	Weak transcription	Fetal Kidney	kidney
6	chr7:127614000-127631000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:127614400-127630600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:127617000-127628800	Weak transcription	Spleen	Spleen
9	chr7:127617200-127628400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:127617200-127630600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:127617200-127631000	Weak transcription	Esophagus	oesophagus
12	chr7:127617600-127640600	Weak transcription	Brain Germinal Matrix	brain
13	chr7:127618200-127633400	Weak transcription	Hela-S3	cervix
14	chr7:127618600-127631200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:127618800-127637800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:127619000-127630600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:127619400-127631000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:127619400-127631000	Weak transcription	A549	lung
19	chr7:127619600-127628400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:127619600-127628600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:127619600-127628600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:127619600-127630000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr7:127619600-127630200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr7:127619600-127630400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:127619600-127630400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr7:127619600-127630600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:127619600-127630600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:127619600-127630600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:127619600-127630600	Weak transcription	Liver	Liver
30	chr7:127619600-127630600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr7:127619600-127630600	Weak transcription	Dnd41	blood
32	chr7:127619600-127630800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:127619600-127630800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:127619600-127630800	Weak transcription	Fetal Stomach	stomach
35	chr7:127619600-127630800	Weak transcription	HSMM	muscle
36	chr7:127619600-127631000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr7:127619600-127631000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr7:127619600-127631000	Weak transcription	Thymus	Thymus
39	chr7:127619600-127631400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr7:127619600-127631600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:127619800-127628400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:127619800-127631600	Weak transcription	HUVEC	blood vessel
43	chr7:127620000-127630800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:127621000-127643600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:127621600-127631600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:127622000-127630600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr7:127622000-127630600	Weak transcription	Fetal Thymus	thymus
48	chr7:127622000-127633400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr7:127622600-127630600	Weak transcription	Primary T cells from cord blood	blood
50	chr7:127622600-127630800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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