Variant report

Variant	rs2283042
Chromosome Location	chr7:107206106-107206107
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:107205690-107206179	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:107203806-107206209	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr7:107204139-107206138	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:107189106..107191821-chr7:107204481..107207285,3	K562	blood:
2	chr7:107202021..107207492-chr7:107217594..107222531,11	MCF-7	breast:
3	chr7:107204495..107206045-chr7:107206098..107207701,2	MCF-7	breast:
4	chr7:106831294..106833913-chr7:107204882..107206554,2	K562	blood:
5	chr7:107201923..107207041-chr7:107381527..107386474,7	K562	blood:
6	chr7:107202895..107206908-chr7:107531209..107533385,3	K562	blood:
7	chr7:107202748..107209925-chr7:107217558..107222659,11	MCF-7	breast:

No data

Variant related genes	Relation type
COG5	TF binding region
DUS4L	TF binding region
ENSG00000272072	Chromatin interaction
ENSG00000164597	Chromatin interaction
ENSG00000272854	Chromatin interaction
ENSG00000241764	Chromatin interaction
ENSG00000091140	Chromatin interaction
ENSG00000105879	Chromatin interaction
ENSG00000075790	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1015410	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1018869	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1024401	0.91[EUR][1000 genomes]
rs10244871	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10245210	0.82[EUR][1000 genomes]
rs10267978	0.92[EUR][1000 genomes]
rs10276321	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10953538	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12532304	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1468335	0.97[EUR][1000 genomes]
rs1858889	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2250410	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2253856	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2520257	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2520258	0.92[EUR][1000 genomes]
rs2520259	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2520262	0.92[EUR][1000 genomes]
rs2520266	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2520270	0.95[EUR][1000 genomes]
rs2520272	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2520276	0.82[EUR][1000 genomes]
rs2520278	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2520279	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2712186	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2712188	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2712192	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2712194	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2712203	0.91[EUR][1000 genomes]
rs2712213	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2712217	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2712223	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2712225	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28410326	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4588787	0.81[AMR][1000 genomes]
rs4610672	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4727682	0.92[EUR][1000 genomes]
rs60490203	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62483724	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6466172	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6466174	0.89[EUR][1000 genomes]
rs6945488	0.84[EUR][1000 genomes]
rs6962433	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6968804	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7786186	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7787113	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7791955	0.80[EUR][1000 genomes]
rs7805630	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[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	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1028571	chr7:107114479-107299723	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539053	chr7:107114479-107299723	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv482365	chr7:107122401-107271861	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv608074	chr7:107179131-107260856	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107204800-107210600	Weak transcription	Spleen	Spleen
2	chr7:107205000-107206200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:107205000-107210600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:107205000-107219600	Weak transcription	Pancreas	Pancrea
5	chr7:107205000-107220000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:107205000-107220000	Weak transcription	Gastric	stomach
7	chr7:107205000-107220200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:107205000-107220200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:107205200-107206200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr7:107205200-107206400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr7:107205200-107210400	Weak transcription	Fetal Thymus	thymus
12	chr7:107205200-107210600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr7:107205200-107210600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:107205200-107210600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr7:107205200-107210600	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:107205200-107210600	Weak transcription	Placenta	Placenta
17	chr7:107205200-107210600	Weak transcription	Left Ventricle	heart
18	chr7:107205200-107210800	Weak transcription	Ovary	ovary
19	chr7:107205200-107219600	Weak transcription	Esophagus	oesophagus
20	chr7:107205200-107219600	Weak transcription	Right Ventricle	heart
21	chr7:107205200-107220000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:107205200-107220000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:107205200-107220000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:107205200-107220000	Weak transcription	Lung	lung
25	chr7:107205200-107220000	Weak transcription	Psoas Muscle	Psoas
26	chr7:107205400-107206200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:107205400-107206600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr7:107205400-107206600	Enhancers	Fetal Heart	heart
29	chr7:107205400-107207600	Weak transcription	Primary B cells from cord blood	blood
30	chr7:107205400-107210600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr7:107205400-107210800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr7:107205400-107211800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:107205400-107219800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr7:107205400-107220000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr7:107205400-107220000	Weak transcription	Colonic Mucosa	Colon
36	chr7:107205400-107220000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr7:107205600-107206200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:107205600-107206200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:107205600-107206200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:107205600-107206200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:107205600-107206200	Enhancers	NHDF-Ad	bronchial
42	chr7:107205600-107206400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:107205600-107206400	Enhancers	HUVEC	blood vessel
44	chr7:107205600-107206600	Enhancers	Hela-S3	cervix
45	chr7:107205600-107206600	Enhancers	HepG2	liver
46	chr7:107205600-107207400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:107205600-107208000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:107205600-107210000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:107205600-107210000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr7:107205600-107210200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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