Variant report

Variant	rs11779339
Chromosome Location	chr8:125694411-125694412
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125685458..125688128-chr8:125691791..125694776,4	K562	blood:
2	chr8:125692471..125696543-chr8:125697551..125702907,8	MCF-7	breast:
3	chr8:125688216..125690595-chr8:125693629..125695701,2	MCF-7	breast:
4	chr8:125681064..125685199-chr8:125693703..125697375,3	MCF-7	breast:
5	chr8:125684155..125685745-chr8:125693552..125695356,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11778149	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11779315	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12677084	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16899960	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	esv1795075	chr8:125692343-125713791	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125673000-125699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:125676200-125699200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:125681200-125701000	Weak transcription	HMEC	breast
4	chr8:125685800-125694600	Weak transcription	Gastric	stomach
5	chr8:125686200-125694600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:125686200-125695600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:125686200-125695800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:125686200-125696000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:125686200-125697600	Weak transcription	HUVEC	blood vessel
10	chr8:125686200-125699600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:125686400-125694800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:125686400-125698400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:125686400-125698400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:125686400-125699400	Weak transcription	Primary T cells from cord blood	blood
15	chr8:125686800-125694600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:125686800-125699600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr8:125687600-125699200	Weak transcription	Fetal Intestine Small	intestine
18	chr8:125687800-125694600	Weak transcription	Spleen	Spleen
19	chr8:125688200-125699600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:125689800-125694600	Weak transcription	Fetal Stomach	stomach
21	chr8:125690400-125694800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:125690400-125694800	Weak transcription	Colon Smooth Muscle	Colon
23	chr8:125690400-125696600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr8:125691600-125697600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:125691800-125694600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:125691800-125696200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:125692600-125699200	Enhancers	Brain Germinal Matrix	brain
28	chr8:125692800-125694600	Weak transcription	Right Ventricle	heart
29	chr8:125692800-125695400	Enhancers	Primary B cells from peripheral blood	blood
30	chr8:125692800-125699400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:125693000-125695000	Enhancers	Brain Hippocampus Middle	brain
32	chr8:125693000-125697200	Enhancers	Liver	Liver
33	chr8:125693200-125695000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:125693200-125699400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr8:125693400-125695200	Enhancers	Primary B cells from cord blood	blood
36	chr8:125693400-125697200	Enhancers	Fetal Kidney	kidney
37	chr8:125693800-125694600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr8:125693800-125695800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr8:125694000-125694600	Enhancers	HepG2	liver
40	chr8:125694000-125695000	Enhancers	Psoas Muscle	Psoas
41	chr8:125694000-125696800	Enhancers	Fetal Brain Male	brain
42	chr8:125694200-125694800	Enhancers	Brain Substantia Nigra	brain
43	chr8:125694200-125694800	Enhancers	Fetal Brain Female	brain
44	chr8:125694200-125695000	Enhancers	Adipose Nuclei	Adipose
45	chr8:125694200-125695000	Enhancers	Brain Anterior Caudate	brain
46	chr8:125694200-125695200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr8:125694200-125695200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr8:125694200-125701400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr8:125694400-125695000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:125694400-125695000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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