Variant report

Variant	rs33970491
Chromosome Location	chr8:96283240-96283241
allele	-/A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SREBP2	chr8:96280774-96283681	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:96111950..96115004-chr8:96279819..96283605,3	MCF-7	breast:
2	chr8:96262492..96264147-chr8:96281511..96283438,2	MCF-7	breast:
3	chr8:95834579..95836869-chr8:96281817..96284598,2	K562	blood:
4	chr8:95907099..95910081-chr8:96279389..96285203,6	K562	blood:
5	chr8:96282451..96284903-chr8:96296240..96298528,2	K562	blood:
6	chr8:95835507..95837268-chr8:96280531..96283343,2	MCF-7	breast:
7	chr8:96266342..96268440-chr8:96282035..96284401,2	K562	blood:

No data

Variant related genes	Relation type
C8orf37	TF binding region
ENSG00000164941	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000156170	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs13248616	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13250483	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13252268	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13257305	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13268060	0.94[AMR][1000 genomes]
rs13271205	0.80[AMR][1000 genomes]
rs13272104	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13272361	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13276119	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13278690	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34079000	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34202133	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34961968	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35120548	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35306808	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35363033	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35432451	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35482239	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71532354	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023866	chr8:96273255-96306378	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv1178396	chr8:96283239-96283241	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96282200-96283400	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr8:96282200-96283400	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr8:96282200-96283400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr8:96282400-96283400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:96282400-96283400	Enhancers	Small Intestine	intestine
6	chr8:96282400-96285600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:96282600-96283400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:96282600-96283400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr8:96282800-96283400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr8:96282800-96283400	Enhancers	Primary B cells from peripheral blood	blood
11	chr8:96282800-96283400	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr8:96282800-96283400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr8:96282800-96283400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:96282800-96283400	Enhancers	Brain Angular Gyrus	brain
15	chr8:96282800-96283400	Enhancers	Brain Hippocampus Middle	brain
16	chr8:96282800-96283400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr8:96282800-96283400	Enhancers	Colon Smooth Muscle	Colon
18	chr8:96282800-96283400	Enhancers	Duodenum Mucosa	Duodenum
19	chr8:96282800-96283400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr8:96282800-96283400	Flanking Active TSS	Fetal Intestine Large	intestine
21	chr8:96282800-96283400	Enhancers	Fetal Intestine Small	intestine
22	chr8:96282800-96283400	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr8:96282800-96283400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr8:96282800-96283400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr8:96282800-96283400	Enhancers	Stomach Smooth Muscle	stomach
26	chr8:96282800-96283400	Flanking Active TSS	Dnd41	blood
27	chr8:96282800-96283400	Enhancers	NHLF	lung
28	chr8:96282800-96283600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr8:96282800-96283600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr8:96282800-96283600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr8:96282800-96283600	Enhancers	Primary T cells fromperipheralblood	blood
32	chr8:96282800-96283600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr8:96282800-96283600	Enhancers	Fetal Brain Female	brain
34	chr8:96282800-96283600	Enhancers	Fetal Heart	heart
35	chr8:96282800-96283600	Enhancers	Fetal Muscle Leg	muscle
36	chr8:96282800-96283600	Enhancers	Fetal Stomach	stomach
37	chr8:96282800-96283600	Enhancers	Stomach Mucosa	stomach
38	chr8:96282800-96285600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr8:96282800-96286200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:96283000-96283400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:96283000-96283400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:96283000-96283400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr8:96283000-96283400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr8:96283000-96283400	Enhancers	Brain Cingulate Gyrus	brain
45	chr8:96283000-96283400	Enhancers	Fetal Brain Male	brain
46	chr8:96283000-96283400	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr8:96283000-96283400	Enhancers	HepG2	liver
48	chr8:96283000-96283600	Enhancers	Brain Anterior Caudate	brain
49	chr8:96283000-96283600	Enhancers	Osteobl	bone
50	chr8:96283000-96283800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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