Variant report

Variant	rs73711124
Chromosome Location	chr7:100151634-100151635
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:100149945-100152248	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:100148923-100163249	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100144895..100147255-chr7:100148488..100151702,4	K562	blood:
2	chr7:100135933..100137949-chr7:100149828..100152348,2	K562	blood:
3	chr7:100063244..100066111-chr7:100151596..100153457,2	K562	blood:
4	chr7:100149390..100151901-chr7:100182154..100184116,2	K562	blood:
5	chr7:100150420..100152350-chr7:100160632..100163258,2	K562	blood:

No data

Variant related genes	Relation type
AGFG2	TF binding region
ENSG00000106351	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000166925	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56854887	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58742225	1.00[AMR][1000 genomes]
rs59009660	1.00[AMR][1000 genomes]
rs61385156	1.00[AMR][1000 genomes]
rs61423399	1.00[AMR][1000 genomes]
rs61679952	1.00[AMR][1000 genomes]
rs73711111	1.00[AMR][1000 genomes]
rs73711116	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711117	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711138	1.00[AMR][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	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
3	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
4	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
5	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
6	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
8	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100144200-100167000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:100144400-100153000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:100144400-100154000	Weak transcription	HSMMtube	muscle
4	chr7:100144600-100153200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:100144600-100153200	Weak transcription	HMEC	breast
6	chr7:100145000-100153200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:100145200-100153200	Weak transcription	Aorta	Aorta
8	chr7:100145200-100167400	Weak transcription	HSMM	muscle
9	chr7:100145400-100153200	Weak transcription	NHLF	lung
10	chr7:100145600-100157000	Weak transcription	Fetal Brain Male	brain
11	chr7:100145800-100157600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:100146200-100153800	Weak transcription	NHDF-Ad	bronchial
13	chr7:100146200-100156200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:100146200-100165000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:100146400-100152000	Strong transcription	Duodenum Mucosa	Duodenum
16	chr7:100146400-100154600	Strong transcription	Fetal Muscle Leg	muscle
17	chr7:100146400-100155200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:100146400-100157400	Strong transcription	Fetal Stomach	stomach
19	chr7:100146600-100151800	Strong transcription	Fetal Intestine Large	intestine
20	chr7:100146600-100155800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:100146600-100167200	Weak transcription	Fetal Heart	heart
22	chr7:100146800-100152200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:100146800-100152200	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:100146800-100154000	Strong transcription	Adipose Nuclei	Adipose
25	chr7:100146800-100154600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:100146800-100154600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:100147000-100154000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:100147000-100157200	Weak transcription	Stomach Mucosa	stomach
29	chr7:100147000-100157400	Weak transcription	Right Atrium	heart
30	chr7:100147400-100154400	Strong transcription	Brain Anterior Caudate	brain
31	chr7:100147400-100154800	Strong transcription	Left Ventricle	heart
32	chr7:100147600-100152200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:100147600-100155800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:100148000-100151800	Strong transcription	Osteobl	bone
35	chr7:100148000-100152200	Strong transcription	HUVEC	blood vessel
36	chr7:100148000-100153800	Strong transcription	K562	blood
37	chr7:100148000-100154400	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr7:100148000-100154400	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr7:100148000-100156400	Strong transcription	Ovary	ovary
40	chr7:100148200-100151800	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr7:100148200-100152000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:100148400-100151800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr7:100148400-100152200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr7:100148400-100153200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:100148400-100153200	Strong transcription	Liver	Liver
46	chr7:100148400-100154800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:100148600-100152600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr7:100148600-100153200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr7:100148600-100154600	Strong transcription	GM12878-XiMat	blood
50	chr7:100148600-100157200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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