Variant report

Variant	rs73403324
Chromosome Location	chr7:100034835-100034836
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:100034754-100034986	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr7:100034784-100034890	MCF-7	breast:	n/a	n/a
3	POLR2A	chr7:100034683-100035559	K562	blood:	n/a	n/a
4	POLR2A	chr7:100025670-100034884	K562	blood:	n/a	n/a
5	POLR2A	chr7:100034643-100035523	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:100034822-100034836	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:100034698-100034929	GM12878	blood:	n/a	n/a
8	POLR2A	chr7:100025626-100035518	HepG2	liver:	n/a	n/a
9	HEY1	chr7:100034680-100034939	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100032492..100035080-chr7:100065519..100068625,3	MCF-7	breast:
2	chr7:100034086..100036624-chr7:100146945..100148605,2	K562	blood:
3	chr7:100033372..100035718-chr7:100301969..100303920,2	MCF-7	breast:
4	chr7:99723524..99726119-chr7:100033732..100035408,2	K562	blood:
5	chr7:100033802..100035674-chr7:100086776..100088609,2	MCF-7	breast:
6	chr7:100033593..100036077-chr7:100064067..100067059,3	K562	blood:
7	chr7:100025583..100035841-chr7:100071553..100080023,19	MCF-7	breast:
8	chr7:99997930..100000096-chr7:100032489..100035082,2	MCF-7	breast:
9	chr7:100034415..100037250-chr7:100289483..100291820,2	MCF-7	breast:
10	chr7:100033419..100035678-chr7:100463885..100466048,2	MCF-7	breast:
11	chr7:99715913..99718707-chr7:100032846..100035303,2	MCF-7	breast:

No data

Variant related genes	Relation type
PPP1R35	TF binding region
ENSG00000166925	Chromatin interaction
ENSG00000166924	Chromatin interaction
ENSG00000106351	Chromatin interaction
ENSG00000106290	Chromatin interaction
ENSG00000166997	Chromatin interaction
ENSG00000087077	Chromatin interaction
ENSG00000214309	Chromatin interaction
ENSG00000242798	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000078487	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10256481	1.00[AMR][1000 genomes]
rs57310628	1.00[AMR][1000 genomes]
rs58497263	1.00[AMR][1000 genomes]
rs59251177	1.00[AMR][1000 genomes]
rs61246011	1.00[AMR][1000 genomes]
rs61611428	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs68049253	1.00[AMR][1000 genomes]
rs6958977	1.00[AMR][1000 genomes]
rs6968343	1.00[AMR][1000 genomes]
rs6970350	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399601	1.00[AMR][1000 genomes]
rs73401410	1.00[AMR][1000 genomes]
rs73401448	1.00[AMR][1000 genomes]
rs73401452	1.00[AMR][1000 genomes]
rs73401466	1.00[AMR][1000 genomes]
rs73401469	1.00[AMR][1000 genomes]
rs73401478	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7796885	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	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
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases
4	nsv527107	chr7:100014711-100064719	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	269 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	nsv984550	chr7:100034415-100080060	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100032600-100035000	Enhancers	Fetal Brain Male	brain
2	chr7:100033400-100035000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:100033400-100035000	Active TSS	Brain Substantia Nigra	brain
4	chr7:100033400-100035000	Active TSS	Fetal Lung	lung
5	chr7:100033600-100035000	Active TSS	Brain Cingulate Gyrus	brain
6	chr7:100034200-100035200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:100034200-100037600	Weak transcription	Spleen	Spleen
8	chr7:100034200-100039600	Weak transcription	Lung	lung
9	chr7:100034200-100042000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:100034400-100035000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:100034400-100037400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:100034600-100035000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:100034600-100035000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:100034600-100035000	Enhancers	Primary B cells from cord blood	blood
15	chr7:100034600-100035000	Enhancers	Primary B cells from peripheral blood	blood
16	chr7:100034600-100035000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr7:100034600-100035000	Enhancers	Primary hematopoietic stem cells	blood
18	chr7:100034600-100035000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr7:100034600-100035000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr7:100034600-100035000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr7:100034600-100035000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:100034600-100035000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr7:100034600-100035000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:100034600-100035000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:100034600-100035000	Enhancers	Fetal Muscle Leg	muscle
26	chr7:100034600-100035000	Enhancers	Placenta	Placenta
27	chr7:100034600-100035000	Enhancers	Fetal Thymus	thymus
28	chr7:100034600-100035000	Enhancers	Pancreas	Pancrea
29	chr7:100034600-100035000	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr7:100034600-100035000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr7:100034600-100035000	Enhancers	Hela-S3	cervix
32	chr7:100034600-100035000	Enhancers	HepG2	liver
33	chr7:100034600-100035200	Enhancers	Thymus	Thymus
34	chr7:100034600-100035400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:100034600-100035600	Enhancers	Fetal Muscle Trunk	muscle
36	chr7:100034600-100036600	Weak transcription	NHLF	lung
37	chr7:100034600-100036800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr7:100034600-100037200	Enhancers	K562	blood
39	chr7:100034600-100037200	Weak transcription	NH-A	brain
40	chr7:100034600-100038200	Enhancers	HUVEC	blood vessel
41	chr7:100034600-100039200	Weak transcription	Fetal Stomach	stomach
42	chr7:100034600-100039400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:100034600-100039400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr7:100034600-100039800	Weak transcription	Right Ventricle	heart
45	chr7:100034600-100041600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:100034600-100042000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr7:100034600-100042000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:100034600-100042000	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr7:100034600-100042000	Weak transcription	Right Atrium	heart
50	chr7:100034600-100042000	Weak transcription	HSMM	muscle

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