Variant report

Variant	rs804270
Chromosome Location	chr8:11627621-11627622
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:11625966..11628578-chr8:11704558..11706433,2	MCF-7	breast:
2	chr8:11626986..11628635-chr8:11724070..11726191,2	K562	blood:
3	chr8:11625866..11628884-chr8:11724599..11727626,3	MCF-7	breast:
4	chr8:11625684..11627765-chr8:11645905..11648269,2	K562	blood:
5	chr8:11625747..11629309-chr8:11658765..11661345,4	K562	blood:
6	chr8:11625432..11628777-chr8:11664764..11667821,4	MCF-7	breast:
7	chr8:11625967..11628744-chr8:11645697..11648212,2	MCF-7	breast:
8	chr5:42992943..42993905-chr8:11627464..11628186,2	Hela-S3	cervix:
9	chr8:11626596..11628658-chr8:11659514..11662088,3	K562	blood:
10	chr8:11624784..11628111-chr8:11660073..11663416,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000227203	Chromatin interaction
ENSG00000079459	Chromatin interaction
ENSG00000255046	Chromatin interaction
ENSG00000164733	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10101195	0.89[ASN][1000 genomes]
rs1090107	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17153782	0.81[ASN][1000 genomes]
rs2740435	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4639	0.85[AMR][1000 genomes]
rs4840581	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs804261	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs804262	0.83[EUR][1000 genomes]
rs804263	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs804264	0.89[EUR][1000 genomes]
rs804265	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs804266	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs804268	0.87[EUR][1000 genomes]
rs804271	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs804276	0.80[EUR][1000 genomes]
rs809202	0.89[EUR][1000 genomes]
rs8191530	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv890360	chr8:11619163-11639991	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1023803	chr8:11623570-11721655	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv539476	chr8:11623570-11721655	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv890361	chr8:11625808-11755513	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs804270	NEIL2	cis	Thyroid	GTEx
rs804270	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs804270	NEIL2	cis	Nerve Tibial	GTEx
rs804270	FCRL4	trans	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11626000-11628200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:11626000-11628200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:11626000-11628200	Active TSS	Lung	lung
4	chr8:11626400-11627800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr8:11626400-11627800	Active TSS	Hela-S3	cervix
6	chr8:11626400-11628200	Active TSS	Rectal Smooth Muscle	rectum
7	chr8:11626400-11628200	Active TSS	HSMM	muscle
8	chr8:11626600-11627800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:11626600-11627800	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr8:11626600-11627800	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr8:11626600-11627800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:11626600-11627800	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr8:11626600-11627800	Active TSS	Primary T cells from cord blood	blood
14	chr8:11626600-11627800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr8:11626600-11627800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:11626600-11627800	Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr8:11626600-11627800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:11626600-11627800	Active TSS	Duodenum Mucosa	Duodenum
19	chr8:11626600-11627800	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr8:11626600-11628000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:11626600-11628000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:11626600-11628000	Active TSS	Fetal Brain Female	brain
23	chr8:11626600-11628000	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr8:11626600-11628000	Active TSS	Right Ventricle	heart
25	chr8:11626600-11628000	Active TSS	Osteobl	bone
26	chr8:11626600-11628200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:11626600-11628200	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr8:11626600-11628200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:11626600-11628200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:11626600-11628200	Active TSS	Brain Anterior Caudate	brain
31	chr8:11626600-11628200	Active TSS	Brain Hippocampus Middle	brain
32	chr8:11626600-11628200	Active TSS	Brain Substantia Nigra	brain
33	chr8:11626600-11628200	Active TSS	Colon Smooth Muscle	Colon
34	chr8:11626600-11628200	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr8:11626600-11628200	Active TSS	Psoas Muscle	Psoas
36	chr8:11626600-11628200	Active TSS	Right Atrium	heart
37	chr8:11626600-11628200	Active TSS	HepG2	liver
38	chr8:11626600-11628400	Active TSS	H9 Cell Line	embryonic stem cell
39	chr8:11626600-11628400	Active TSS	A549	lung
40	chr8:11626600-11628400	Active TSS	HSMMtube	muscle
41	chr8:11626800-11627800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr8:11626800-11627800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:11626800-11627800	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr8:11626800-11627800	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr8:11626800-11627800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:11626800-11627800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr8:11626800-11627800	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr8:11626800-11627800	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr8:11626800-11627800	Active TSS	Fetal Lung	lung
50	chr8:11626800-11627800	Active TSS	Pancreas	Pancrea

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