Variant report

Variant	rs6979670
Chromosome Location	chr7:64500042-64500043
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:64498619..64500351-chr7:65337220..65338727,3	MCF-7	breast:
2	chr7:64465846..64468983-chr7:64497347..64500243,4	MCF-7	breast:
3	chr7:64499257..64501633-chr7:64540419..64543070,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152926	Chromatin interaction
ENSG00000213462	Chromatin interaction
ENSG00000196715	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11768242	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13234920	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34736446	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56130756	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56364688	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67047829	0.84[EUR][1000 genomes]
rs71562958	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73139811	0.81[EUR][1000 genomes]
rs7789856	0.84[EUR][1000 genomes]
rs7794744	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9791587	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9791589	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active 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 miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv888282	chr7:64299645-64511564	Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	esv3506582	chr7:64323055-64563984	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv3506583	chr7:64323055-64563984	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv1019180	chr7:64329889-64512842	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv888283	chr7:64343985-64511564	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	esv2752165	chr7:64345822-65208605	Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
12	nsv888284	chr7:64406439-64562139	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv1033517	chr7:64443052-64942418	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
14	nsv538893	chr7:64443052-64942418	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
15	nsv1034625	chr7:64456197-64850413	Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
16	nsv1019089	chr7:64456197-64874187	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
17	nsv1023699	chr7:64456197-64942418	Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
18	nsv517778	chr7:64462326-65326821	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
19	nsv429767	chr7:64473713-65415647	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
20	nsv917231	chr7:64478253-65300317	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
21	esv34341	chr7:64478386-65012082	Bivalent/Poised TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
22	esv2752166	chr7:64478386-65208605	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
23	nsv1029796	chr7:64494934-65302696	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
24	nsv916005	chr7:64499811-65012082	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
25	nsv533081	chr7:64499945-65208605	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6979670	ASL	Cis_chr	lymphoblastoid	RTeQTL
rs6979670	VKORC1L1	cis	Whole Blood	GTEx
rs6979670	GUSB	cis	Whole Blood	GTEx

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64498000-64500200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:64498000-64500200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:64498000-64500400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:64498000-64500400	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr7:64498200-64500200	Active TSS	H1 Cell Line	embryonic stem cell
6	chr7:64498200-64500200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr7:64498200-64500200	Active TSS	Fetal Kidney	kidney
8	chr7:64498200-64500200	Active TSS	Right Atrium	heart
9	chr7:64498200-64500200	Active TSS	Stomach Smooth Muscle	stomach
10	chr7:64498200-64500400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:64498200-64500400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr7:64498200-64500400	Active TSS	Fetal Intestine Large	intestine
13	chr7:64498200-64500400	Active TSS	Fetal Intestine Small	intestine
14	chr7:64498200-64500400	Active TSS	NHLF	lung
15	chr7:64498200-64500600	Active TSS	GM12878-XiMat	blood
16	chr7:64498400-64500200	Active TSS	K562	blood
17	chr7:64498600-64500200	Active TSS	Primary hematopoietic stem cells	blood
18	chr7:64498600-64500200	Active TSS	HMEC	breast
19	chr7:64498800-64500200	Active TSS	NHDF-Ad	bronchial
20	chr7:64498800-64500400	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr7:64498800-64500600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:64498800-64501000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:64499400-64500200	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr7:64499400-64500200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:64499400-64500200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:64499400-64500200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:64499400-64500200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:64499400-64500200	Active TSS	Fetal Brain Male	brain
29	chr7:64499400-64500400	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr7:64499400-64500400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:64499400-64500400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr7:64499400-64500600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr7:64499600-64500200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:64499600-64500200	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr7:64499600-64500200	Flanking Active TSS	NHEK	skin
36	chr7:64499600-64500200	Flanking Active TSS	Osteobl	bone
37	chr7:64499600-64500400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr7:64499600-64500400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr7:64499600-64500400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:64499600-64500400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr7:64499600-64500400	Flanking Active TSS	Dnd41	blood
42	chr7:64499600-64517400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:64499600-64531200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr7:64499600-64531400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:64499600-64541000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:64499800-64500200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:64499800-64500200	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr7:64499800-64500200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr7:64499800-64500200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr7:64499800-64500200	Enhancers	Brain Cingulate Gyrus	brain

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