Variant report

Variant	rs73428427
Chromosome Location	chr7:112061920-112061921
allele	C/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	ELF1	chr7:112061779-112062540	K562	blood:	n/a	chr7:112062301-112062312
2	MYC	chr7:112061751-112062670	NB4	blood:	n/a	chr7:112062073-112062082
3	CEBPB	chr7:112061919-112062579	Hela-S3	cervix:	n/a	n/a
4	MAX	chr7:112061682-112062661	NB4	blood:	n/a	chr7:112062073-112062082
5	USF2	chr7:112061917-112061955	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:112058693..112068099-chr7:112086961..112092875,22	MCF-7	breast:
2	chr7:112060910..112062508-chr7:112065563..112067389,2	K562	blood:
3	chr7:112058803..112077296-chr7:112087519..112096464,50	MCF-7	breast:
4	chr7:112060645..112065287-chr7:112088150..112093147,11	K562	blood:
5	chr7:112060641..112062150-chr7:112065491..112067917,2	K562	blood:
6	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: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs58457277	0.91[AFR][1000 genomes]
rs73424456	0.87[AFR][1000 genomes]
rs73426417	0.87[AFR][1000 genomes]
rs73426460	0.91[AFR][1000 genomes]
rs73426479	0.91[AFR][1000 genomes]
rs73428424	1.00[AFR][1000 genomes]
rs73428425	1.00[AFR][1000 genomes]
rs73428453	0.96[AFR][1000 genomes]
rs73428460	0.96[AFR][1000 genomes]
rs73428471	0.84[AFR][1000 genomes]
rs73428474	0.84[AFR][1000 genomes]
rs7804274	0.91[AFR][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:80 , 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	chr7:112056800-112062400	Weak transcription	HUVEC	blood vessel
4	chr7:112059800-112064400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:112060000-112062000	Weak transcription	Esophagus	oesophagus
6	chr7:112060200-112063200	Weak transcription	Fetal Heart	heart
7	chr7:112060400-112062000	Enhancers	NH-A	brain
8	chr7:112060400-112063000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr7:112060400-112063200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:112060600-112062800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:112060600-112064000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:112060800-112062000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:112060800-112062000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:112060800-112062000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:112060800-112062000	Weak transcription	Psoas Muscle	Psoas
16	chr7:112060800-112062200	Enhancers	HepG2	liver
17	chr7:112060800-112062600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr7:112060800-112064000	Enhancers	Brain Anterior Caudate	brain
19	chr7:112061000-112062000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:112061000-112062000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:112061000-112062000	Weak transcription	Adipose Nuclei	Adipose
22	chr7:112061000-112062200	Enhancers	A549	lung
23	chr7:112061000-112062400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:112061000-112063000	Weak transcription	HSMM	muscle
25	chr7:112061000-112063400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr7:112061000-112063600	Enhancers	Brain Angular Gyrus	brain
27	chr7:112061000-112063800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:112061000-112063800	Enhancers	Brain Cingulate Gyrus	brain
29	chr7:112061000-112063800	Enhancers	Brain Hippocampus Middle	brain
30	chr7:112061000-112063800	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr7:112061000-112064000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:112061000-112064000	Enhancers	NHEK	skin
33	chr7:112061000-112064200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:112061000-112064400	Enhancers	HMEC	breast
35	chr7:112061000-112089800	Weak transcription	Aorta	Aorta
36	chr7:112061200-112062000	Enhancers	Dnd41	blood
37	chr7:112061200-112062400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr7:112061200-112062600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:112061200-112062600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:112061200-112062600	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:112061200-112062600	Weak transcription	Osteobl	bone
42	chr7:112061200-112062800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:112061200-112062800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:112061200-112063000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr7:112061200-112064400	Enhancers	Brain Substantia Nigra	brain
46	chr7:112061400-112062600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:112061400-112064400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:112061600-112062000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:112061600-112062000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:112061600-112062000	Enhancers	Monocytes-CD14+_RO01746	blood

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