Variant report

Variant	rs73407316
Chromosome Location	chr7:100146619-100146620
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:9)
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	chr7:100145085-100146623	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:100146288-100147121	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100140983..100146932-chr7:100182357..100186194,10	MCF-7	breast:
2	chr7:100145746..100147750-chr7:100180240..100183063,2	K562	blood:
3	chr7:100145586..100147127-chr7:100152126..100154333,2	K562	blood:
4	chr7:100145206..100146855-chr7:100182658..100185253,2	K562	blood:
5	chr7:100144895..100147255-chr7:100148488..100151702,4	K562	blood:
6	chr7:100146512..100148018-chr7:100154524..100156081,2	K562	blood:
7	chr7:100076149..100078056-chr7:100145849..100148358,2	MCF-7	breast:
8	chr7:100144343..100147077-chr7:100156607..100158371,2	MCF-7	breast:
9	chr7:100030016..100034371-chr7:100142404..100146654,4	K562	blood:

No data

Variant related genes	Relation type
AGFG2	TF binding region
ENSG00000106336	Chromatin interaction
ENSG00000106351	Chromatin interaction
ENSG00000240211	Chromatin interaction
ENSG00000241357	Chromatin interaction
ENSG00000166925	Chromatin interaction
ENSG00000160813	Chromatin interaction
ENSG00000077454	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs61709787	0.94[AFR][1000 genomes]
rs73407314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73407324	0.90[AFR][1000 genomes]
rs73407330	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv971157	chr7:100143688-100148402	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr7:100140000-100148000	Enhancers	Primary B cells from peripheral blood	blood
2	chr7:100141800-100147000	Enhancers	Right Atrium	heart
3	chr7:100141800-100147000	Enhancers	Stomach Mucosa	stomach
4	chr7:100142000-100147000	Enhancers	Placenta	Placenta
5	chr7:100142600-100148600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:100142800-100146800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr7:100142800-100147200	Enhancers	Spleen	Spleen
8	chr7:100143600-100147400	Enhancers	Primary T cells from cord blood	blood
9	chr7:100144000-100147000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:100144000-100150000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr7:100144200-100146800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:100144200-100146800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:100144200-100147000	Enhancers	Ovary	ovary
14	chr7:100144200-100151400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:100144200-100151600	Weak transcription	NHEK	skin
16	chr7:100144200-100167000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:100144400-100147000	Enhancers	Brain Anterior Caudate	brain
18	chr7:100144400-100147400	Weak transcription	Thymus	Thymus
19	chr7:100144400-100147600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr7:100144400-100153000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:100144400-100154000	Weak transcription	HSMMtube	muscle
22	chr7:100144600-100146800	Enhancers	Primary T cells fromperipheralblood	blood
23	chr7:100144600-100148000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr7:100144600-100148000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:100144600-100150000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:100144600-100150200	Weak transcription	Fetal Kidney	kidney
27	chr7:100144600-100151000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:100144600-100153200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr7:100144600-100153200	Weak transcription	HMEC	breast
30	chr7:100144800-100147000	Enhancers	HUVEC	blood vessel
31	chr7:100144800-100147600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr7:100145000-100147400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:100145000-100148400	Genic enhancers	HepG2	liver
34	chr7:100145000-100148600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:100145000-100150800	Weak transcription	Brain Germinal Matrix	brain
36	chr7:100145000-100153200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:100145200-100146800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:100145200-100153200	Weak transcription	Aorta	Aorta
39	chr7:100145200-100167400	Weak transcription	HSMM	muscle
40	chr7:100145400-100146800	Enhancers	A549	lung
41	chr7:100145400-100147200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr7:100145400-100151000	Weak transcription	Psoas Muscle	Psoas
43	chr7:100145400-100153200	Weak transcription	NHLF	lung
44	chr7:100145600-100146800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:100145600-100147600	Enhancers	Lung	lung
46	chr7:100145600-100150200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr7:100145600-100157000	Weak transcription	Fetal Brain Male	brain
48	chr7:100145800-100146800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr7:100145800-100146800	Weak transcription	Brain Substantia Nigra	brain
50	chr7:100145800-100146800	Weak transcription	Fetal Lung	lung

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