Variant report

Variant	rs35543354
Chromosome Location	chr8:96280216-96280217
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:96280053-96280315	MCF10A-Er-Src	breast:	n/a	n/a
2	GATA3	chr8:96279976-96280243	SH-SY5Y	brain:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96111950..96115004-chr8:96279819..96283605,3	MCF-7	breast:
2	chr8:95907099..95910081-chr8:96279389..96285203,6	K562	blood:
3	chr8:96115025..96117970-chr8:96278759..96280968,3	MCF-7	breast:
4	chr8:95907501..95911346-chr8:96279945..96283030,5	MCF-7	breast:
5	chr8:96098333..96100158-chr8:96278509..96280957,2	MCF-7	breast:
6	chr8:96267958..96270319-chr8:96278452..96280953,2	K562	blood:
7	chr8:95906455..95910081-chr8:96279389..96281894,5	K562	blood:
8	chr8:96044471..96047276-chr8:96280162..96282608,2	MCF-7	breast:
9	chr8:96082478..96088281-chr8:96279501..96283230,8	MCF-7	breast:
10	chr8:96143208..96147491-chr8:96279441..96282856,8	MCF-7	breast:
11	chr8:96142341..96149648-chr8:96278644..96282772,12	MCF-7	breast:
12	chr8:96279721..96282098-chr8:97246962..97249259,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253773	TF binding region
ENSG00000254248	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000254224	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000245080	Chromatin interaction
ENSG00000156467	Chromatin interaction
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs13248616	0.81[AMR][1000 genomes]
rs13250483	0.81[AMR][1000 genomes]
rs13257305	0.81[AMR][1000 genomes]
rs13260234	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13267037	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13267333	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13267612	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13268060	0.81[AMR][1000 genomes]
rs13271205	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13276926	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1994794	1.00[ASN][1000 genomes]
rs34196697	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34202133	0.81[AMR][1000 genomes]
rs34289076	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34389602	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34463279	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34861861	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34961968	0.81[AMR][1000 genomes]
rs34962193	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35141355	1.00[ASN][1000 genomes]
rs35175236	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35195888	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35273564	1.00[ASN][1000 genomes]
rs35511040	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35530445	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35559164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35690795	0.92[EUR][1000 genomes]
rs35809593	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36032317	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36096184	1.00[ASN][1000 genomes]
rs55677759	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56186143	1.00[ASN][1000 genomes]
rs56237137	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57183551	1.00[ASN][1000 genomes]
rs58191899	1.00[ASN][1000 genomes]
rs58229316	1.00[ASN][1000 genomes]
rs58471124	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58979833	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59707579	1.00[ASN][1000 genomes]
rs60835162	1.00[ASN][1000 genomes]
rs61185934	1.00[ASN][1000 genomes]
rs61730929	1.00[ASN][1000 genomes]
rs61730932	1.00[ASN][1000 genomes]
rs61995709	1.00[ASN][1000 genomes]
rs61997199	1.00[ASN][1000 genomes]
rs6471526	1.00[ASN][1000 genomes]
rs7004873	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71532351	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71532352	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71532353	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73266490	1.00[ASN][1000 genomes]
rs73268303	1.00[ASN][1000 genomes]
rs73268328	1.00[ASN][1000 genomes]
rs73695429	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73695431	1.00[ASN][1000 genomes]
rs73695432	1.00[ASN][1000 genomes]
rs73695433	1.00[ASN][1000 genomes]
rs73695435	1.00[ASN][1000 genomes]
rs73695436	1.00[ASN][1000 genomes]
rs73695437	1.00[ASN][1000 genomes]
rs73695438	1.00[ASN][1000 genomes]
rs73695439	1.00[ASN][1000 genomes]
rs7814173	1.00[ASN][1000 genomes]
rs7815085	1.00[ASN][1000 genomes]
rs7841828	1.00[ASN][1000 genomes]
rs894149	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96242200-96280600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:96243800-96280400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:96245600-96280400	Weak transcription	Fetal Stomach	stomach
4	chr8:96245600-96280400	Weak transcription	Pancreas	Pancrea
5	chr8:96249000-96280800	Weak transcription	Gastric	stomach
6	chr8:96250600-96280400	Weak transcription	Left Ventricle	heart
7	chr8:96251200-96280400	Weak transcription	Psoas Muscle	Psoas
8	chr8:96253400-96280400	Weak transcription	Esophagus	oesophagus
9	chr8:96255200-96280400	Weak transcription	Fetal Brain Male	brain
10	chr8:96256800-96280400	Weak transcription	Lung	lung
11	chr8:96257000-96280400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:96257400-96280400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:96257800-96280400	Weak transcription	Fetal Kidney	kidney
14	chr8:96258000-96280400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:96258200-96280400	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:96258400-96280400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:96260000-96280400	Weak transcription	Fetal Lung	lung
18	chr8:96260400-96280400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:96260800-96280400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:96261000-96280400	Weak transcription	Fetal Heart	heart
21	chr8:96261200-96280400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr8:96261800-96280400	Weak transcription	Brain Hippocampus Middle	brain
23	chr8:96262000-96280400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr8:96262200-96280400	Weak transcription	Adipose Nuclei	Adipose
25	chr8:96262200-96280400	Weak transcription	Fetal Thymus	thymus
26	chr8:96262600-96280400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:96263200-96280400	Weak transcription	Placenta	Placenta
28	chr8:96264200-96280400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:96264200-96280400	Weak transcription	Liver	Liver
30	chr8:96264200-96280400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr8:96264200-96280400	Weak transcription	Brain Substantia Nigra	brain
32	chr8:96266000-96280400	Weak transcription	Fetal Intestine Small	intestine
33	chr8:96267000-96280400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:96268800-96280400	Weak transcription	Thymus	Thymus
35	chr8:96269200-96280400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:96269400-96280600	Weak transcription	HSMMtube	muscle
37	chr8:96269600-96280400	Weak transcription	GM12878-XiMat	blood
38	chr8:96271000-96280400	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:96271800-96280400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:96271800-96280400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:96271800-96280400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr8:96272000-96280400	Weak transcription	Fetal Brain Female	brain
43	chr8:96272000-96280600	Weak transcription	Aorta	Aorta
44	chr8:96272000-96280600	Weak transcription	Ovary	ovary
45	chr8:96272600-96280400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr8:96272800-96280400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr8:96273000-96280400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:96275000-96280400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr8:96275400-96280400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:96277400-96280600	Weak transcription	Primary T cells from cord blood	blood

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