Variant report

Variant	rs7766767
Chromosome Location	chr6:38123483-38123484
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37786224..37788976-chr6:38123206..38127132,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156639	Chromatin interaction
ENSG00000225945	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs13195333	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13212369	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13217630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs16890301	0.85[CEU][hapmap];0.81[YRI][hapmap]
rs16890365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2645104	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2645115	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2645126	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28360531	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2842524	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34038972	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs34054123	0.81[AMR][1000 genomes]
rs34406273	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs35549511	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35559973	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35597126	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs35815938	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6458037	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs6908761	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs6916057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6916535	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6917208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6921475	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6923132	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs6923254	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs6940491	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs71571304	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7740636	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7776025	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs9296236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats 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	20 gene(s)	inside rSNPs	diseases
4	esv2754649	chr6:37985025-38147910	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv524213	chr6:38106844-38160627	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv981301	chr6:38119797-38124102	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7766767	ELOVL2	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38084600-38124200	Weak transcription	Hela-S3	cervix
2	chr6:38091400-38141800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:38103000-38127200	Weak transcription	Colon Smooth Muscle	Colon
4	chr6:38109200-38129000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:38111800-38138200	Weak transcription	Fetal Brain Female	brain
6	chr6:38112400-38128400	Weak transcription	Brain Germinal Matrix	brain
7	chr6:38112400-38138200	Weak transcription	Fetal Brain Male	brain
8	chr6:38113000-38127800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:38113200-38134400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:38113200-38138000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr6:38114400-38138200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:38114600-38127200	Weak transcription	HSMM	muscle
13	chr6:38117200-38131800	Weak transcription	Stomach Mucosa	stomach
14	chr6:38117600-38123600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:38117600-38137200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:38119400-38127800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:38119800-38123600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:38119800-38129400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr6:38119800-38134800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:38120200-38125600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr6:38120400-38132800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:38120600-38123600	Enhancers	Primary B cells from cord blood	blood
23	chr6:38120600-38125400	Weak transcription	Primary T cells from cord blood	blood
24	chr6:38120800-38123600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:38120800-38125400	Enhancers	Fetal Thymus	thymus
26	chr6:38121000-38123600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr6:38121000-38125800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr6:38121000-38126200	Weak transcription	GM12878-XiMat	blood
29	chr6:38121000-38126400	Weak transcription	NHEK	skin
30	chr6:38121000-38159600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr6:38121200-38123800	Genic enhancers	Fetal Stomach	stomach
32	chr6:38121200-38128400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:38121200-38136400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr6:38121400-38136600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr6:38121400-38141000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr6:38121600-38127600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr6:38121600-38128400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:38121600-38131600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr6:38121600-38132600	Weak transcription	Osteobl	bone
40	chr6:38121600-38137800	Weak transcription	Colonic Mucosa	Colon
41	chr6:38121800-38123600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr6:38121800-38123600	Enhancers	Adipose Nuclei	Adipose
43	chr6:38121800-38123600	Enhancers	Placenta	Placenta
44	chr6:38121800-38123800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:38121800-38126600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr6:38121800-38132200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:38121800-38132600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:38121800-38132800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:38121800-38138000	Weak transcription	Dnd41	blood
50	chr6:38121800-38153600	Weak transcription	Primary B cells from peripheral blood	blood

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