Variant report

Variant	rs6783663
Chromosome Location	chr3:112867479-112867480
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:112865633..112868819-chr3:112877200..112880555,3	MCF-7	breast:
2	chr3:112866581..112868430-chr3:112875306..112877224,2	K562	blood:

Variant related genes	Relation type
ENSG00000240057	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12486277	0.92[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs13071497	0.81[EUR][1000 genomes]
rs17316696	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1797620	0.84[EUR][1000 genomes]
rs1881943	0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs1920080	0.91[ASN][1000 genomes]
rs2613963	0.91[ASN][1000 genomes]
rs2700208	0.83[EUR][1000 genomes]
rs28645753	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35097436	0.84[EUR][1000 genomes]
rs9810734	0.95[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9811344	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9829983	0.92[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs9834189	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1003511	chr3:112858775-112989045	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6783663	RP11-572M11.3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112863400-112870600	Weak transcription	Left Ventricle	heart
2	chr3:112864600-112867600	Enhancers	Colon Smooth Muscle	Colon
3	chr3:112865200-112871400	Enhancers	Fetal Stomach	stomach
4	chr3:112865400-112867600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr3:112865600-112870000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr3:112865600-112870000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:112865800-112870400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:112866000-112868200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr3:112866200-112868200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:112866400-112867600	Enhancers	Adipose Nuclei	Adipose
11	chr3:112866400-112867800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:112866400-112867800	Enhancers	NHEK	skin
13	chr3:112866400-112869800	Enhancers	Fetal Muscle Leg	muscle
14	chr3:112866600-112867800	Enhancers	Fetal Kidney	kidney
15	chr3:112866600-112868000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr3:112866600-112868200	Enhancers	Placenta	Placenta
17	chr3:112866600-112868200	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr3:112866800-112867600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:112866800-112867600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:112866800-112867600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:112866800-112867600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:112866800-112867600	Enhancers	Esophagus	oesophagus
23	chr3:112866800-112867600	Enhancers	Psoas Muscle	Psoas
24	chr3:112866800-112867600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr3:112866800-112867600	Enhancers	Small Intestine	intestine
26	chr3:112866800-112867800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:112866800-112867800	Enhancers	Ovary	ovary
28	chr3:112866800-112867800	Flanking Active TSS	Rectal Smooth Muscle	rectum
29	chr3:112866800-112867800	Enhancers	HMEC	breast
30	chr3:112866800-112868000	Enhancers	Fetal Brain Female	brain
31	chr3:112866800-112868200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr3:112866800-112868200	Enhancers	Fetal Lung	lung
33	chr3:112866800-112869600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr3:112867000-112867600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr3:112867000-112867600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:112867000-112867600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:112867000-112867600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr3:112867000-112867600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr3:112867000-112867600	Enhancers	Spleen	Spleen
40	chr3:112867000-112869000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:112867000-112869200	Weak transcription	Pancreas	Pancrea
42	chr3:112867200-112867600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr3:112867200-112867600	Enhancers	Stomach Mucosa	stomach
44	chr3:112867200-112867800	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr3:112867200-112868200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr3:112867200-112868400	Enhancers	Fetal Intestine Small	intestine
47	chr3:112867400-112867600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr3:112867400-112867600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:112867400-112867600	Enhancers	Fetal Muscle Trunk	muscle
50	chr3:112867400-112867600	Enhancers	Right Atrium	heart

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