Variant report

Variant	rs73713939
Chromosome Location	chr7:99677647-99677648
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	RAD21	chr7:99677612-99680025	SK-N-SH	brain:	n/a	chr7:99679559-99679573 chr7:99679555-99679574 chr7:99679115-99679125 chr7:99679557-99679569
2	POLR2A	chr7:99676279-99678089	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:99677580-99679844	SK-N-MC	brain:	n/a	n/a
4	MXI1	chr7:99676664-99679993	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:99611430..99615857-chr7:99675156..99681193,15	K562	blood:
2	chr7:99576524..99578899-chr7:99677600..99679193,2	K562	blood:
3	chr7:99668310..99676246-chr7:99677185..99681836,16	MCF-7	breast:
4	chr7:99676617..99678184-chr7:99678757..99681254,2	MCF-7	breast:
5	chr7:99677604..99679757-chr7:100032184..100034035,2	K562	blood:
6	chr7:99645911..99648901-chr7:99677073..99680526,5	MCF-7	breast:
7	chr7:99034954..99037866-chr7:99677567..99679393,3	K562	blood:
8	chr7:99677060..99680949-chr7:100024846..100027547,5	MCF-7	breast:

Variant related genes	Relation type
ZNF3	TF binding region
ENSG00000146834	Chromatin interaction
ENSG00000160917	Chromatin interaction
ENSG00000106261	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000214313	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000166529	Chromatin interaction
ENSG00000241357	Chromatin interaction
ENSG00000160813	Chromatin interaction
ENSG00000240211	Chromatin interaction
ENSG00000166526	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs59119284	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711111	1.00[AMR][1000 genomes]
rs73713937	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73713948	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	nsv469687	chr7:99572543-99755141	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
5	nsv482601	chr7:99572543-99755141	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
6	nsv607931	chr7:99664817-99796146	Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1097 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99666400-99678000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:99673000-99677800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:99673400-99677800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:99673400-99677800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:99673400-99678200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:99673600-99677800	Strong transcription	H9 Cell Line	embryonic stem cell
7	chr7:99673600-99677800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:99673600-99677800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:99674800-99678600	Weak transcription	Aorta	Aorta
10	chr7:99675000-99677800	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr7:99675000-99677800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:99675200-99677800	Strong transcription	A549	lung
13	chr7:99675200-99677800	Weak transcription	HSMMtube	muscle
14	chr7:99675200-99678600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr7:99676000-99677800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr7:99676000-99677800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
17	chr7:99676200-99677800	Genic enhancers	Adipose Nuclei	Adipose
18	chr7:99676400-99677800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr7:99676400-99677800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
20	chr7:99676400-99678000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr7:99676400-99678400	Enhancers	Fetal Heart	heart
22	chr7:99676600-99677800	Flanking Active TSS	Brain Substantia Nigra	brain
23	chr7:99676600-99677800	Genic enhancers	Stomach Smooth Muscle	stomach
24	chr7:99676600-99678000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
25	chr7:99676600-99678000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:99676600-99678000	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
27	chr7:99676600-99678000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
28	chr7:99676600-99678400	Enhancers	Fetal Brain Male	brain
29	chr7:99676600-99678400	Enhancers	Right Atrium	heart
30	chr7:99676800-99677800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:99676800-99677800	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
32	chr7:99676800-99678000	Genic enhancers	Fetal Muscle Leg	muscle
33	chr7:99676800-99678200	Genic enhancers	Fetal Stomach	stomach
34	chr7:99676800-99678200	Transcr. at gene 5' and 3'	Dnd41	blood
35	chr7:99676800-99678400	Enhancers	Brain Anterior Caudate	brain
36	chr7:99677000-99677800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:99677000-99677800	Genic enhancers	Muscle Satellite Cultured Cells	--
38	chr7:99677000-99677800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:99677000-99677800	Weak transcription	Thymus	Thymus
40	chr7:99677000-99678000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr7:99677000-99678000	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:99677000-99678000	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr7:99677000-99678000	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr7:99677000-99678000	Genic enhancers	Fetal Thymus	thymus
45	chr7:99677000-99678000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
46	chr7:99677000-99678000	Enhancers	Small Intestine	intestine
47	chr7:99677000-99678000	Genic enhancers	K562	blood
48	chr7:99677000-99678000	Genic enhancers	NHEK	skin
49	chr7:99677000-99678200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:99677000-99678200	Genic enhancers	Primary hematopoietic stem cells	blood

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