Variant report

Variant	rs7783478
Chromosome Location	chr7:127328537-127328538
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127292635..127294692-chr7:127327406..127330053,2	MCF-7	breast:
2	chr7:127328273..127331929-chr7:127333052..127335984,3	K562	blood:
3	chr7:127292385..127294984-chr7:127328196..127329892,2	K562	blood:
4	chr7:127322349..127324124-chr7:127326869..127328716,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197157	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10229165	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10238047	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10239440	0.82[EUR][1000 genomes]
rs10249616	0.80[EUR][1000 genomes]
rs10265516	0.83[ASN][1000 genomes]
rs10270127	0.90[EUR][1000 genomes]
rs10280863	0.83[ASN][1000 genomes]
rs11765620	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11767317	0.81[ASN][1000 genomes]
rs1440971	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1440972	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3808089	0.83[ASN][1000 genomes]
rs57103099	0.83[ASN][1000 genomes]
rs6467152	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6943219	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6943385	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947779	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6953134	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6965698	0.80[ASN][1000 genomes]
rs6979634	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73450923	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7778413	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7781189	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7783102	0.83[ASN][1000 genomes]
rs7786786	0.85[ASN][1000 genomes]
rs7792695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801118	0.90[EUR][1000 genomes]
rs806179	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv1031658	chr7:127266882-127376775	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127299000-127334400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:127307000-127330200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:127308800-127333600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:127309400-127333600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:127309600-127339600	Weak transcription	Brain Germinal Matrix	brain
6	chr7:127314400-127330400	Weak transcription	Esophagus	oesophagus
7	chr7:127318200-127333800	Weak transcription	Brain Angular Gyrus	brain
8	chr7:127319200-127330400	Weak transcription	Aorta	Aorta
9	chr7:127320000-127330400	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:127320400-127329600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr7:127322600-127329800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr7:127322800-127329600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:127324000-127329200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:127324200-127333800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:127324200-127338200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:127324400-127329600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:127324400-127349000	Strong transcription	K562	blood
18	chr7:127324600-127334800	Weak transcription	Psoas Muscle	Psoas
19	chr7:127324800-127338400	Weak transcription	Small Intestine	intestine
20	chr7:127324800-127344200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:127324800-127349400	Weak transcription	Stomach Mucosa	stomach
22	chr7:127324800-127350800	Weak transcription	Fetal Brain Female	brain
23	chr7:127324800-127372200	Weak transcription	Fetal Heart	heart
24	chr7:127325000-127330600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr7:127325000-127346400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:127325200-127328600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:127325200-127334600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:127325600-127331200	Strong transcription	Fetal Intestine Large	intestine
29	chr7:127325600-127347200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:127325600-127363000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr7:127325800-127331000	Strong transcription	Primary T cells from cord blood	blood
32	chr7:127325800-127331000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:127325800-127334600	Weak transcription	Colonic Mucosa	Colon
34	chr7:127325800-127350200	Strong transcription	HepG2	liver
35	chr7:127326000-127332400	Strong transcription	Fetal Intestine Small	intestine
36	chr7:127326000-127352200	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr7:127326000-127354400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:127326000-127355600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr7:127326200-127328600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:127326200-127328600	Strong transcription	Brain Hippocampus Middle	brain
41	chr7:127326200-127328600	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr7:127326200-127329000	Strong transcription	Adipose Nuclei	Adipose
43	chr7:127326200-127329200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:127326200-127330200	Strong transcription	Fetal Thymus	thymus
45	chr7:127326200-127331400	Strong transcription	Liver	Liver
46	chr7:127326200-127331600	Strong transcription	GM12878-XiMat	blood
47	chr7:127326200-127332200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:127326200-127332800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:127326200-127333000	Strong transcription	Fetal Muscle Trunk	muscle
50	chr7:127326200-127338400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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