Variant report

Variant	rs12216563
Chromosome Location	chr7:112060989-112060990
allele	A/G
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	MYC	chr7:112060856-112061035	NB4	blood:	n/a	n/a
2	MAX	chr7:112060100-112061054	ECC-1	luminal epithelium:	n/a	chr7:112060324-112060337 chr7:112060326-112060335 chr7:112060324-112060337 chr7:112060325-112060334 chr7:112060325-112060335 chr7:112060327-112060334 chr7:112060325-112060336 chr7:112060326-112060336 chr7:112060326-112060335 chr7:112060326-112060336 chr7:112060325-112060336
3	TCF12	chr7:112060197-112061017	ECC-1	luminal epithelium:	n/a	chr7:112060775-112060785
4	MYC	chr7:112060195-112061025	MCF10A-Er-Src	breast:	n/a	chr7:112060324-112060337 chr7:112060326-112060335 chr7:112060324-112060337 chr7:112060325-112060334 chr7:112060325-112060335 chr7:112060327-112060334 chr7:112060325-112060336 chr7:112060326-112060336 chr7:112060326-112060335 chr7:112060326-112060336 chr7:112060325-112060336
5	NFIC	chr7:112060241-112061115	ECC-1	luminal epithelium:	n/a	n/a
6	TEAD4	chr7:112060172-112061110	ECC-1	luminal epithelium:	n/a	n/a
7	NFIC	chr7:112060161-112061128	ECC-1	luminal epithelium:	n/a	n/a
8	TCF12	chr7:112060201-112061054	ECC-1	luminal epithelium:	n/a	chr7:112060775-112060785
9	TEAD4	chr7:112060236-112061063	ECC-1	luminal epithelium:	n/a	n/a
10	MAX	chr7:112060232-112061061	ECC-1	luminal epithelium:	n/a	chr7:112060324-112060337 chr7:112060326-112060335 chr7:112060324-112060337 chr7:112060325-112060334 chr7:112060325-112060335 chr7:112060327-112060334 chr7:112060325-112060336 chr7:112060326-112060336 chr7:112060326-112060335 chr7:112060326-112060336 chr7:112060325-112060336
11	EP300	chr7:112060214-112061158	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:112058693..112068099-chr7:112086961..112092875,22	MCF-7	breast:
2	chr7:112055161..112057071-chr7:112058715..112061690,2	MCF-7	breast:
3	chr7:112054145..112057717-chr7:112058317..112061377,3	K562	blood:
4	chr7:112060910..112062508-chr7:112065563..112067389,2	K562	blood:
5	chr7:112058803..112077296-chr7:112087519..112096464,50	MCF-7	breast:
6	chr7:112060645..112065287-chr7:112088150..112093147,11	K562	blood:
7	chr7:112060641..112062150-chr7:112065491..112067917,2	K562	blood:
8	chr7:112059129..112067568-chr7:112088387..112093703,18	K562	blood:

Variant related genes	Relation type
IFRD1	TF binding region
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11761827	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771128	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13223482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34020242	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35734252	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4727770	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4730544	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58295122	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62474016	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6944057	0.86[EUR][1000 genomes]
rs6969907	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976652	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs720639	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7780160	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7798715	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7810707	0.86[EUR][1000 genomes]
rs9649350	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112051600-112062000	Weak transcription	Right Atrium	heart
2	chr7:112053800-112062000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr7:112056400-112061800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:112056400-112061800	Weak transcription	Thymus	Thymus
5	chr7:112056600-112061800	Weak transcription	Fetal Thymus	thymus
6	chr7:112056800-112062400	Weak transcription	HUVEC	blood vessel
7	chr7:112057000-112061600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:112057200-112061600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:112057400-112061200	Weak transcription	Dnd41	blood
10	chr7:112059400-112061800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:112059800-112061000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:112059800-112061200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:112059800-112061800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr7:112059800-112064400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:112060000-112061800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:112060000-112062000	Weak transcription	Esophagus	oesophagus
17	chr7:112060200-112061000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:112060200-112061000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:112060200-112061000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:112060200-112061000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:112060200-112061000	Flanking Active TSS	NHEK	skin
22	chr7:112060200-112063200	Weak transcription	Fetal Heart	heart
23	chr7:112060400-112061000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:112060400-112061000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:112060400-112061000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:112060400-112061000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr7:112060400-112061000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:112060400-112061000	Flanking Active TSS	Brain Angular Gyrus	brain
29	chr7:112060400-112061000	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr7:112060400-112061000	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr7:112060400-112061000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr7:112060400-112061000	Flanking Active TSS	Colon Smooth Muscle	Colon
33	chr7:112060400-112061000	Flanking Active TSS	HMEC	breast
34	chr7:112060400-112061000	Flanking Active TSS	Osteobl	bone
35	chr7:112060400-112061200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:112060400-112061200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr7:112060400-112061200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:112060400-112061200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:112060400-112061200	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr7:112060400-112061200	Flanking Active TSS	NHDF-Ad	bronchial
41	chr7:112060400-112061400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:112060400-112061400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:112060400-112062000	Enhancers	NH-A	brain
44	chr7:112060400-112063000	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr7:112060400-112063200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr7:112060600-112061000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:112060600-112061000	Enhancers	Adipose Nuclei	Adipose
48	chr7:112060600-112061000	Enhancers	Aorta	Aorta
49	chr7:112060600-112061000	Flanking Active TSS	A549	lung
50	chr7:112060600-112061800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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