Variant report

Variant	rs73254771
Chromosome Location	chr8:87441432-87441433
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87440126..87442804-chr8:87449363..87451230,2	K562	blood:
2	chr8:87440656..87442407-chr8:87447766..87450661,2	MCF-7	breast:
3	chr8:87427807..87429419-chr8:87440053..87442565,2	MCF-7	breast:
4	chr8:87439947..87441861-chr8:87445213..87448185,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123124	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10090107	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10099858	0.89[AFR][1000 genomes]
rs10101337	0.88[EUR][1000 genomes]
rs10101658	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10106735	0.88[EUR][1000 genomes]
rs10107469	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11994220	0.87[AFR][1000 genomes]
rs16907490	0.88[EUR][1000 genomes]
rs16911667	0.88[EUR][1000 genomes]
rs16912199	0.88[EUR][1000 genomes]
rs16914543	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs28361918	0.90[AFR][1000 genomes]
rs28446298	0.88[EUR][1000 genomes]
rs28504305	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs28593581	0.90[AFR][1000 genomes]
rs28801137	0.88[EUR][1000 genomes]
rs3916649	0.88[EUR][1000 genomes]
rs56280479	0.88[EUR][1000 genomes]
rs60177164	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61661701	0.88[EUR][1000 genomes]
rs7012745	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73254743	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73257062	1.00[EUR][1000 genomes]
rs73271003	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73273124	1.00[EUR][1000 genomes]
rs73688826	0.88[EUR][1000 genomes]
rs7461904	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7464360	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7812422	0.88[EUR][1000 genomes]
rs7839610	0.88[EUR][1000 genomes]
rs7841007	0.88[EUR][1000 genomes]
rs7841939	0.88[EUR][1000 genomes]
rs9656826	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9656828	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87379600-87444000	Weak transcription	Brain Germinal Matrix	brain
2	chr8:87382400-87444000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:87405400-87443600	Weak transcription	NHLF	lung
4	chr8:87416400-87443600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr8:87426000-87446400	Weak transcription	K562	blood
6	chr8:87427400-87452600	Weak transcription	HSMMtube	muscle
7	chr8:87427600-87485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:87428200-87443800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr8:87428600-87460800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:87429400-87443600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:87429400-87443600	Weak transcription	Small Intestine	intestine
12	chr8:87429400-87443800	Weak transcription	Brain Angular Gyrus	brain
13	chr8:87429400-87453600	Weak transcription	Stomach Mucosa	stomach
14	chr8:87429800-87443800	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:87429800-87444000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:87431600-87443800	Weak transcription	Colonic Mucosa	Colon
17	chr8:87431800-87443600	Weak transcription	GM12878-XiMat	blood
18	chr8:87432400-87443800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:87432600-87451200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:87432800-87443800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:87436400-87443600	Weak transcription	Fetal Brain Female	brain
22	chr8:87436400-87451800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:87436800-87442400	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr8:87436800-87451600	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr8:87436800-87483200	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr8:87437000-87441600	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr8:87437200-87445600	Strong transcription	Fetal Intestine Large	intestine
28	chr8:87437200-87450400	Strong transcription	Dnd41	blood
29	chr8:87437400-87441600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:87437400-87441800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr8:87437400-87441800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr8:87437400-87441800	Strong transcription	Adipose Nuclei	Adipose
33	chr8:87437400-87441800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr8:87437400-87442200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:87437400-87442200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr8:87437400-87442400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:87437400-87442400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr8:87437400-87442400	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr8:87437400-87442600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:87437400-87451400	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr8:87437400-87451600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:87437400-87451800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:87437400-87451800	Strong transcription	Fetal Lung	lung
44	chr8:87437400-87452200	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr8:87437400-87452600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:87437400-87453000	Strong transcription	Liver	Liver
47	chr8:87437400-87456400	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr8:87437400-87457800	Strong transcription	Fetal Thymus	thymus
49	chr8:87437400-87458000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:87437400-87458000	Strong transcription	HUES48 Cell Line	embryonic stem cell

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