Variant report

Variant	rs11715505
Chromosome Location	chr3:112929334-112929335
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr3:112929268-112929689	H1-hESC	embryonic stem cell:	n/a	n/a
2	RFX5	chr3:112929246-112929588	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAFK	chr3:112929324-112929566	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr3:112929109-112930171	H1-hESC	embryonic stem cell:	n/a	n/a
5	SP1	chr3:112929136-112929675	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr3:112929310-112929641	H1-hESC	embryonic stem cell:	n/a	n/a
7	GTF2F1	chr3:112929305-112929478	H1-hESC	embryonic stem cell:	n/a	n/a
8	SIN3A	chr3:112929169-112931694	H1-hESC	embryonic stem cell:	n/a	chr3:112929815-112929828 chr3:112930962-112930971
9	SP1	chr3:112929142-112929689	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:112929165..112932026-chr3:112933299..112935458,2	K562	blood:
2	chr3:112875811..112877981-chr3:112929321..112930900,2	MCF-7	breast:

Variant related genes	Relation type
BOC	TF binding region
ENSG00000144857	Chromatin interaction
ENSG00000240057	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1027553	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12630707	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13064015	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13072047	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2016165	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7641880	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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
4	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv877346	chr3:112893640-112938683	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv877347	chr3:112895679-112934752	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv877348	chr3:112914756-113012509	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	esv3394751	chr3:112928562-112932960	Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112928400-112929400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr3:112928800-112929400	Enhancers	Fetal Lung	lung
3	chr3:112929000-112929400	Enhancers	Fetal Brain Male	brain
4	chr3:112929000-112929600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:112929000-112929600	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr3:112929000-112929800	Enhancers	Pancreas	Pancrea
7	chr3:112929000-112930000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr3:112929200-112929400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
9	chr3:112929200-112929400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr3:112929200-112929400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:112929200-112929400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr3:112929200-112929400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:112929200-112929400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:112929200-112929400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:112929200-112929400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:112929200-112929400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:112929200-112929400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
18	chr3:112929200-112929400	Enhancers	Esophagus	oesophagus
19	chr3:112929200-112929400	Bivalent Enhancer	Fetal Intestine Large	intestine
20	chr3:112929200-112929400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
21	chr3:112929200-112929400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
22	chr3:112929200-112929400	Flanking Active TSS	NHDF-Ad	bronchial
23	chr3:112929200-112929400	Enhancers	NHEK	skin
24	chr3:112929200-112929600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:112929200-112929600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:112929200-112929600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:112929200-112929600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:112929200-112929600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr3:112929200-112929600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr3:112929200-112929600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:112929200-112929600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:112929200-112929600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:112929200-112929600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr3:112929200-112929600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:112929200-112929600	Flanking Active TSS	Fetal Brain Female	brain
36	chr3:112929200-112929600	Flanking Active TSS	Fetal Stomach	stomach
37	chr3:112929200-112929600	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr3:112929200-112929600	Flanking Active TSS	Osteobl	bone
39	chr3:112929200-112929800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:112929200-112929800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:112929200-112929800	Active TSS	Adipose Nuclei	Adipose
42	chr3:112929200-112929800	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr3:112929200-112930000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr3:112929200-112930000	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr3:112929200-112930000	Flanking Active TSS	Fetal Muscle Trunk	muscle
46	chr3:112929200-112930200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr3:112929200-112930200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr3:112929200-112930200	Bivalent/Poised TSS	Primary B cells from cord blood	blood
49	chr3:112929200-112930400	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr3:112929200-112931200	Active TSS	HUES64 Cell Line	embryonic stem cell

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