Variant report

Variant	rs7903788
Chromosome Location	chr10:50733979-50733980
allele	C/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	POLR2A	chr10:50733866-50734041	GM12878	blood:	n/a	n/a
2	CCNT2	chr10:50733830-50734024	K562	blood:	n/a	n/a
3	NFYA	chr10:50733792-50734079	K562	blood:	n/a	n/a
4	POLR2A	chr10:50733903-50734011	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:50733015..50734544-chr10:50744395..50746528,2	MCF-7	breast:
2	chr10:50724821..50729589-chr10:50731335..50734731,5	K562	blood:
3	chr10:50732404..50734142-chr10:50745663..50748821,3	MCF-7	breast:

Variant related genes	Relation type
PGBD3	TF binding region
ENSG00000225830	Chromatin interaction
ENSG00000258838	Chromatin interaction
ENSG00000243251	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1018603	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10745261	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10776572	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776573	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776577	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10857502	1.00[ASN][1000 genomes]
rs11101147	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1475255	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1917800	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1924490	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1924492	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2103201	1.00[ASN][1000 genomes]
rs2104346	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4240509	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4253026	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4253073	1.00[ASN][1000 genomes]
rs4253077	1.00[ASN][1000 genomes]
rs4253087	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253120	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253132	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253162	1.00[ASN][1000 genomes]
rs4253164	1.00[ASN][1000 genomes]
rs4253179	1.00[ASN][1000 genomes]
rs4838523	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838524	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838530	1.00[ASN][1000 genomes]
rs57509152	1.00[ASN][1000 genomes]
rs6537536	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6537538	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7076173	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7080017	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7091005	1.00[ASN][1000 genomes]
rs72792895	1.00[ASN][1000 genomes]
rs72793798	1.00[ASN][1000 genomes]
rs7902661	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7903930	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7916873	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7923762	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912470	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs958967	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50707600-50735600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr10:50717200-50736200	Weak transcription	Colon Smooth Muscle	Colon
3	chr10:50717200-50746000	Weak transcription	Fetal Heart	heart
4	chr10:50717400-50737000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr10:50720400-50746200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:50721600-50734800	Weak transcription	A549	lung
7	chr10:50723000-50734400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:50723000-50741000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr10:50723200-50741000	Strong transcription	Primary T cells from cord blood	blood
10	chr10:50723200-50741000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:50723200-50741000	Strong transcription	HMEC	breast
12	chr10:50723200-50741800	Strong transcription	Osteobl	bone
13	chr10:50723400-50739600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr10:50723400-50741000	Strong transcription	Fetal Intestine Large	intestine
15	chr10:50723400-50741000	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr10:50723400-50741600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr10:50723400-50741600	Strong transcription	NHEK	skin
18	chr10:50723600-50741000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr10:50724400-50734800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr10:50725000-50746200	Weak transcription	Psoas Muscle	Psoas
21	chr10:50726600-50734000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr10:50726800-50739600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:50727600-50734000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr10:50727800-50741000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr10:50727800-50741000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:50727800-50741000	Strong transcription	Adipose Nuclei	Adipose
27	chr10:50727800-50741200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr10:50728000-50734400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr10:50728200-50734200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr10:50728200-50741000	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr10:50728200-50741400	Strong transcription	HSMM	muscle
32	chr10:50728400-50738600	Strong transcription	Fetal Thymus	thymus
33	chr10:50728400-50741000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr10:50728400-50741000	Strong transcription	Placenta	Placenta
35	chr10:50728600-50736800	Strong transcription	Fetal Lung	lung
36	chr10:50728600-50736800	Weak transcription	Gastric	stomach
37	chr10:50728600-50740600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr10:50728600-50741400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr10:50728800-50741000	Strong transcription	Dnd41	blood
40	chr10:50728800-50742000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr10:50729000-50745800	Weak transcription	Stomach Mucosa	stomach
42	chr10:50729200-50734400	Weak transcription	Brain Germinal Matrix	brain
43	chr10:50729200-50738600	Strong transcription	Fetal Muscle Leg	muscle
44	chr10:50729200-50741400	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr10:50729200-50742400	Strong transcription	Hela-S3	cervix
46	chr10:50729600-50740000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr10:50730000-50737400	Weak transcription	Right Atrium	heart
48	chr10:50730000-50746400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr10:50730600-50741000	Strong transcription	Duodenum Mucosa	Duodenum
50	chr10:50730600-50741200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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