Variant report

Variant	rs16926417
Chromosome Location	chr8:61619023-61619024
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61590260..61597729-chr8:61611560..61624694,18	MCF-7	breast:
2	chr8:61601943..61604368-chr8:61616321..61619419,3	K562	blood:

Variant related genes	Relation type
ENSG00000171316	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16926368	1.00[AMR][1000 genomes]
rs16926384	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16926456	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16926501	1.00[AMR][1000 genomes]
rs16926514	1.00[AMR][1000 genomes]
rs3898502	1.00[AMR][1000 genomes]
rs41272433	1.00[AMR][1000 genomes]
rs7004263	1.00[AMR][1000 genomes]
rs7814111	1.00[AMR][1000 genomes]
rs7827147	1.00[AMR][1000 genomes]
rs7840220	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS 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	33 gene(s)	inside rSNPs	diseases
4	nsv824657	chr8:61555227-61626758	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1019809	chr8:61597918-61624034	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv539631	chr8:61597918-61624034	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv6219	chr8:61599770-61644558	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61597000-61619800	Weak transcription	HMEC	breast
2	chr8:61598200-61619800	Weak transcription	HepG2	liver
3	chr8:61603400-61620600	Weak transcription	Fetal Intestine Large	intestine
4	chr8:61603400-61626200	Weak transcription	Fetal Thymus	thymus
5	chr8:61606400-61620400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:61607200-61619800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:61607400-61619800	Weak transcription	Fetal Lung	lung
8	chr8:61607400-61627000	Weak transcription	Spleen	Spleen
9	chr8:61607600-61620400	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:61609200-61619800	Weak transcription	HSMM	muscle
11	chr8:61609200-61620400	Weak transcription	NH-A	brain
12	chr8:61610600-61620000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:61612600-61622000	Enhancers	Primary B cells from peripheral blood	blood
14	chr8:61613400-61619800	Weak transcription	Gastric	stomach
15	chr8:61613600-61619400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:61613600-61619800	Weak transcription	Stomach Mucosa	stomach
17	chr8:61613600-61620400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr8:61613600-61620400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:61613600-61621000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:61613600-61621000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:61613600-61621000	Weak transcription	Lung	lung
22	chr8:61613800-61620400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr8:61614600-61619800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:61614800-61620000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:61615200-61620400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr8:61615200-61620600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr8:61615200-61621000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:61615400-61619800	Weak transcription	HSMMtube	muscle
29	chr8:61615400-61620400	Weak transcription	K562	blood
30	chr8:61615600-61619600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:61615600-61621000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr8:61615600-61644400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:61615800-61619800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:61615800-61619800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr8:61615800-61620600	Weak transcription	Fetal Brain Male	brain
36	chr8:61616000-61619800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr8:61616000-61621400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr8:61616200-61619800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr8:61616200-61620600	Weak transcription	Fetal Brain Female	brain
40	chr8:61616200-61621200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:61616200-61626000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr8:61616400-61619600	Weak transcription	Fetal Heart	heart
43	chr8:61616400-61619800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:61616400-61619800	Enhancers	Primary B cells from cord blood	blood
45	chr8:61616400-61621400	Weak transcription	Aorta	Aorta
46	chr8:61616600-61619800	Weak transcription	Brain Angular Gyrus	brain
47	chr8:61616600-61621000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr8:61617000-61621800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:61617200-61620000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr8:61617200-61621000	Weak transcription	Primary T cells fromperipheralblood	blood

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