Variant report

Variant	rs1781715
Chromosome Location	chr6:38667852-38667853
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:38656860..38659853-chr6:38666153..38668324,2	MCF-7	breast:
2	chr6:38606456..38608908-chr6:38667468..38670067,2	MCF-7	breast:
3	chr6:38626742..38628981-chr6:38666689..38669446,2	K562	blood:

Variant related genes	Relation type
ENSG00000183826	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1049346	0.96[ASN][1000 genomes]
rs1615887	0.87[ASN][1000 genomes]
rs1699012	0.87[ASN][1000 genomes]
rs1781717	0.94[ASN][1000 genomes]
rs1781719	0.94[ASN][1000 genomes]
rs1781735	0.96[ASN][1000 genomes]
rs2490027	0.84[ASN][1000 genomes]
rs2736655	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv2758049	chr6:38588969-38711085	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv2759421	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats 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	11 gene(s)	inside rSNPs	diseases
5	nsv427754	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv428144	chr6:38588969-38711085	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv830642	chr6:38645056-38800657	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38641200-38670000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:38641600-38668000	Weak transcription	NHLF	lung
3	chr6:38642800-38669800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:38646000-38670000	Weak transcription	A549	lung
5	chr6:38646800-38668200	Weak transcription	Primary T cells from cord blood	blood
6	chr6:38648800-38669800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:38651200-38668000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr6:38651200-38668000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:38651200-38669800	Weak transcription	HSMM	muscle
10	chr6:38651200-38670000	Weak transcription	Fetal Kidney	kidney
11	chr6:38651400-38669400	Weak transcription	Osteobl	bone
12	chr6:38652000-38668000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:38652400-38668000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:38653000-38668000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:38653000-38670000	Weak transcription	NHDF-Ad	bronchial
16	chr6:38653600-38669400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:38654400-38669800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:38654600-38668000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr6:38654600-38668000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:38654600-38668000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:38654600-38669400	Weak transcription	Hela-S3	cervix
22	chr6:38655200-38669800	Weak transcription	Pancreas	Pancrea
23	chr6:38655200-38670000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:38655400-38668000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr6:38655600-38668000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:38656800-38668000	Weak transcription	Fetal Stomach	stomach
27	chr6:38656800-38668000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr6:38657000-38668000	Weak transcription	Adipose Nuclei	Adipose
29	chr6:38657000-38668000	Weak transcription	Fetal Lung	lung
30	chr6:38657000-38668000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr6:38657000-38668000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr6:38657000-38669400	Weak transcription	Thymus	Thymus
33	chr6:38657000-38669800	Weak transcription	Colonic Mucosa	Colon
34	chr6:38657000-38669800	Weak transcription	Lung	lung
35	chr6:38657000-38670000	Weak transcription	Left Ventricle	heart
36	chr6:38657000-38670000	Weak transcription	Psoas Muscle	Psoas
37	chr6:38657200-38668000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr6:38657200-38668000	Weak transcription	Colon Smooth Muscle	Colon
39	chr6:38657200-38668200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr6:38657400-38668000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr6:38657600-38668000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr6:38657600-38668000	Weak transcription	HepG2	liver
43	chr6:38657600-38669600	Weak transcription	Fetal Brain Male	brain
44	chr6:38658400-38668000	Weak transcription	Liver	Liver
45	chr6:38660800-38668200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:38663600-38668000	Weak transcription	Ovary	ovary
47	chr6:38663600-38670200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr6:38663800-38668000	Weak transcription	HUVEC	blood vessel
49	chr6:38664600-38668000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr6:38665000-38668000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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