Variant report

Variant	rs750509
Chromosome Location	chr8:104428856-104428857
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr8:104426610-104428894	K562	blood:	n/a	n/a
2	WRNIP1	chr8:104428354-104428915	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:104426433-104428920	GM12878	blood:	n/a	n/a
4	MXI1	chr8:104428811-104429030	K562	blood:	n/a	n/a
5	POLR2A	chr8:104423258-104429002	IMR90	lung:	n/a	n/a
6	RCOR1	chr8:104428182-104428980	K562	blood:	n/a	n/a
7	SIN3AK20	chr8:104426315-104428888	MCF-7	breast:	n/a	n/a
8	MXI1	chr8:104426353-104428955	GM12878	blood:	n/a	chr8:104426636-104426645 chr8:104426634-104426643
9	BHLHE40	chr8:104428488-104428971	GM12878	blood:	n/a	n/a
10	MXI1	chr8:104425196-104428858	IMR90	lung:	n/a	chr8:104426636-104426645 chr8:104426634-104426643
11	NFATC1	chr8:104428189-104428904	GM12878	blood:	n/a	n/a
12	POLR2A	chr8:104426496-104428912	Raji	blood:	n/a	n/a
13	SIN3A	chr8:104426333-104428856	H1-hESC	embryonic stem cell:	n/a	n/a
14	MXI1	chr8:104425295-104429257	SK-N-SH	brain:	n/a	chr8:104426636-104426645 chr8:104426634-104426643
15	MAZ	chr8:104428306-104428990	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:50353062..50354689-chr8:104427173..104429081,2	MCF-7	breast:
2	chr8:104427774..104429306-chr8:104457033..104459237,2	MCF-7	breast:
3	chr8:104427653..104431566-chr8:104442876..104445476,3	K562	blood:
4	chr8:103875054..103878103-chr8:104425943..104429059,5	K562	blood:
5	chr8:104412488..104416313-chr8:104425793..104429036,7	MCF-7	breast:
6	chr8:104428226..104429911-chr8:104523222..104524939,2	MCF-7	breast:
7	chr16:4743346..4745302-chr8:104426942..104429289,2	MCF-7	breast:
8	chr8:104382707..104385620-chr8:104427062..104430016,2	MCF-7	breast:

Variant related genes	Relation type
SLC25A32	TF binding region
ENSG00000198355	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000168101	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000164932	Chromatin interaction
ENSG00000164933	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs17228576	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17228841	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17803441	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2687356	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2917546	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2917547	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2917548	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098216	1.00[ASN][1000 genomes]
rs3098226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098234	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098235	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098239	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133812	1.00[ASN][1000 genomes]
rs3134252	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134260	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134263	1.00[ASN][1000 genomes]
rs3134268	1.00[ASN][1000 genomes]
rs3134269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73286089	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73286092	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73286095	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs751725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827589	0.83[AMR][1000 genomes]
rs827591	0.83[AMR][1000 genomes]
rs827594	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs827600	0.88[AMR][1000 genomes];0.82[EUR][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	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
3	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1016395	chr8:104327541-104473005	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1023048	chr8:104355188-104872701	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv539705	chr8:104355188-104872701	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1021345	chr8:104361854-104879684	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv1032085	chr8:104362187-104878345	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1033477	chr8:104369940-104439632	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS 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	28 gene(s)	inside rSNPs	diseases
10	nsv539706	chr8:104369940-104439632	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised 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	28 gene(s)	inside rSNPs	diseases
11	nsv1034183	chr8:104369940-104814008	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv539707	chr8:104369940-104814008	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv611832	chr8:104400808-104481735	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	esv2753239	chr8:104404824-104545824	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104422800-104429600	Active TSS	GM12878-XiMat	blood
2	chr8:104423400-104429400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:104425400-104429200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:104425600-104429000	Active TSS	Right Atrium	heart
5	chr8:104425600-104429200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:104425800-104429000	Active TSS	H1 Cell Line	embryonic stem cell
7	chr8:104425800-104429000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:104425800-104429000	Active TSS	HSMM	muscle
9	chr8:104425800-104429200	Active TSS	NHLF	lung
10	chr8:104426000-104429000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:104426000-104429200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr8:104426000-104429200	Active TSS	A549	lung
13	chr8:104426200-104429000	Active TSS	Fetal Intestine Large	intestine
14	chr8:104426200-104429200	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr8:104426400-104429000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:104426400-104429000	Active TSS	H9 Cell Line	embryonic stem cell
17	chr8:104426400-104429200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:104426600-104429000	Active TSS	Ovary	ovary
19	chr8:104427600-104429000	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr8:104427600-104429000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr8:104427800-104429000	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr8:104427800-104429000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr8:104427800-104429000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:104427800-104429000	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr8:104427800-104429000	Flanking Active TSS	Liver	Liver
26	chr8:104427800-104429000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr8:104428000-104429000	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr8:104428000-104429000	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr8:104428000-104429200	Flanking Active TSS	Fetal Brain Female	brain
30	chr8:104428000-104429400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:104428200-104429000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr8:104428200-104429000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr8:104428200-104429000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr8:104428200-104429000	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr8:104428200-104429000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr8:104428200-104429000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:104428200-104429000	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr8:104428200-104429000	Flanking Active TSS	Fetal Heart	heart
39	chr8:104428200-104429000	Flanking Active TSS	Fetal Intestine Small	intestine
40	chr8:104428200-104429000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr8:104428200-104429000	Flanking Active TSS	Thymus	Thymus
42	chr8:104428200-104429200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr8:104428200-104429200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:104428200-104429200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr8:104428200-104429200	Flanking Active TSS	HUVEC	blood vessel
46	chr8:104428200-104429200	Flanking Active TSS	Osteobl	bone
47	chr8:104428200-104429400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr8:104428200-104462400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:104428200-104464800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:104428400-104429000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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