Variant report

Variant	rs7840355
Chromosome Location	chr8:103308523-103308524
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:103298397..103300610-chr8:103306655..103309037,2	MCF-7	breast:
2	chr8:103303183..103305362-chr8:103307869..103309784,2	K562	blood:
3	chr8:103308012..103310056-chr8:103311769..103313826,2	K562	blood:
4	chr8:103308388..103310812-chr8:103313420..103315385,2	MCF-7	breast:
5	chr8:103307064..103308726-chr8:103589205..103591686,2	MCF-7	breast:
6	chr8:103305234..103307379-chr8:103307597..103309375,2	MCF-7	breast:
7	chr8:103272916..103274548-chr8:103306550..103308849,2	MCF-7	breast:
8	chr8:103250313..103253012-chr8:103307347..103308859,2	K562	blood:
9	chr8:103306340..103308594-chr8:103820369..103822986,2	MCF-7	breast:
10	chr8:102445404..102448201-chr8:103307116..103309907,2	K562	blood:
11	chr8:103291796..103293789-chr8:103308408..103310782,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104517	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000246263	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1037699	1.00[ASN][1000 genomes]
rs1037700	1.00[ASN][1000 genomes]
rs11774038	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774772	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11778468	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11780954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11782557	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784155	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13259118	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13261195	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13266055	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13267660	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13268552	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13270916	0.91[AMR][1000 genomes]
rs13273642	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13278113	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13280613	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869344	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869352	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869362	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869417	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2305832	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28973252	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28998469	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34002127	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34609465	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34694718	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34782477	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34837214	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34852161	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35090306	0.91[AMR][1000 genomes]
rs35101027	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35368426	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35537579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35624360	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35769335	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35771800	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3735723	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71518853	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71518855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71518860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs718165	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73698742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7843178	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1020359	chr8:103109921-103318415	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1018990	chr8:103207922-103357742	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv539702	chr8:103207922-103357742	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv528486	chr8:103279922-103373304	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103252200-103318800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:103262600-103329800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:103263400-103327800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:103263400-103327800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:103266800-103329000	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:103267400-103327800	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:103267400-103329000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:103267600-103327800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:103268000-103327200	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr8:103268200-103327600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:103268200-103328000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:103287800-103312800	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:103293800-103329200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:103296000-103312600	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr8:103296600-103327000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:103296800-103311400	Strong transcription	HUVEC	blood vessel
17	chr8:103297000-103312600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:103297000-103315400	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr8:103299800-103327600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:103299800-103329200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:103299800-103329200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:103300000-103312800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:103300000-103312800	Strong transcription	Fetal Intestine Large	intestine
24	chr8:103300000-103312800	Strong transcription	Fetal Thymus	thymus
25	chr8:103300000-103312800	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr8:103300000-103313800	Weak transcription	Brain Angular Gyrus	brain
27	chr8:103300000-103326200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:103300000-103327200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:103300000-103328200	Strong transcription	HSMM	muscle
30	chr8:103300000-103328600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:103300000-103329400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr8:103300000-103329800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr8:103300000-103330000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:103300200-103312800	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr8:103300200-103327000	Strong transcription	Adipose Nuclei	Adipose
36	chr8:103300200-103342800	Weak transcription	Stomach Mucosa	stomach
37	chr8:103300200-103343000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr8:103300400-103326200	Strong transcription	Primary T cells from cord blood	blood
39	chr8:103300400-103327400	Strong transcription	Liver	Liver
40	chr8:103300400-103327600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:103300600-103331600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:103300800-103327200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:103300800-103327600	Strong transcription	Placenta	Placenta
44	chr8:103300800-103328200	Strong transcription	Dnd41	blood
45	chr8:103301000-103327400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:103301800-103326400	Strong transcription	Fetal Lung	lung
47	chr8:103301800-103327000	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr8:103301800-103327200	Strong transcription	NH-A	brain
49	chr8:103301800-103327400	Strong transcription	K562	blood
50	chr8:103302000-103318400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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