Variant report

Variant	rs7000925
Chromosome Location	chr8:124244972-124244973
allele	C/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	GATA3	chr8:124244256-124245300	SK-N-SH	brain:	n/a	chr8:124244935-124244948
2	RAD21	chr8:124244567-124245030	SK-N-SH_RA	brain:	n/a	chr8:124244737-124244749 chr8:124244857-124244866
3	SIN3AK20	chr8:124244399-124245025	SK-N-SH	brain:	n/a	n/a
4	PBX3	chr8:124244234-124245112	SK-N-SH	brain:	n/a	n/a
5	EP300	chr8:124244394-124245034	SK-N-SH_RA	brain:	n/a	n/a
6	TCF12	chr8:124244100-124245273	SK-N-SH	brain:	n/a	n/a
7	PBX3	chr8:124244394-124244998	SK-N-SH	brain:	n/a	n/a
8	NFIC	chr8:124244212-124245077	SK-N-SH	brain:	n/a	n/a
9	GATA2	chr8:124244486-124245145	SH-SY5Y	brain:	n/a	chr8:124244935-124244948
10	POLR2A	chr8:124244936-124244978	HUVEC	blood vessel:	n/a	n/a
11	GATA3	chr8:124244275-124245140	SK-N-SH	brain:	n/a	chr8:124244935-124244948
12	EP300	chr8:124244411-124245034	SK-N-SH_RA	brain:	n/a	n/a
13	JUND	chr8:124244237-124244981	SK-N-SH	brain:	n/a	chr8:124244423-124244432 chr8:124244784-124244798
14	TCF12	chr8:124244116-124245257	SK-N-SH	brain:	n/a	n/a
15	GATA3	chr8:124244670-124245171	SH-SY5Y	brain:	n/a	chr8:124244935-124244948

No.	Distal block	Cell Line	Cell type
1	chr8:124242969..124246444-chr8:124250871..124254572,7	K562	blood:
2	chr8:124244263..124246245-chr8:124261758..124263943,2	MCF-7	breast:
3	chr8:124243496..124245966-chr8:124284944..124287102,2	MCF-7	breast:

Variant related genes	Relation type
C8orf76	TF binding region
UBA52P5	TF binding region
ENSG00000165156	Chromatin interaction
ENSG00000189376	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10102371	0.91[AFR][1000 genomes]
rs10105355	0.94[AFR][1000 genomes]
rs11985341	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11990683	1.00[EUR][1000 genomes]
rs11990772	1.00[EUR][1000 genomes]
rs11994660	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16898127	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16898165	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16898247	1.00[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs4871356	0.81[AFR][1000 genomes]
rs55708440	1.00[EUR][1000 genomes]
rs59355895	1.00[EUR][1000 genomes]
rs59413499	1.00[EUR][1000 genomes]
rs61288481	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6989437	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6996427	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6998407	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs73703766	1.00[EUR][1000 genomes]
rs73703768	1.00[EUR][1000 genomes]
rs73703779	1.00[EUR][1000 genomes]
rs73703788	1.00[EUR][1000 genomes]
rs73703796	0.95[AFR][1000 genomes]
rs7835285	0.86[AFR][1000 genomes]
rs7838103	1.00[CEU][hapmap]
rs900628	1.00[CEU][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 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	chr8:124219200-124245800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:124220200-124252800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:124229000-124252200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:124229200-124251400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:124229400-124251200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:124229400-124252000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:124230200-124247800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:124230200-124251200	Weak transcription	Stomach Mucosa	stomach
9	chr8:124233400-124250200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:124233600-124251200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr8:124234400-124251200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr8:124234600-124248000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:124234600-124252400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:124235200-124252400	Weak transcription	Psoas Muscle	Psoas
15	chr8:124235800-124245200	Strong transcription	Primary B cells from cord blood	blood
16	chr8:124235800-124248800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:124235800-124249800	Strong transcription	Primary T cells from cord blood	blood
18	chr8:124235800-124250600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:124236000-124247600	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr8:124236000-124250600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:124236200-124245200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr8:124236200-124245600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:124236400-124245200	Strong transcription	Primary hematopoietic stem cells	blood
24	chr8:124236400-124248000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr8:124236400-124249000	Strong transcription	Dnd41	blood
26	chr8:124236400-124250200	Strong transcription	Fetal Muscle Trunk	muscle
27	chr8:124236400-124250600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:124236400-124250600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr8:124236600-124245000	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr8:124236600-124247600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:124236600-124247800	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr8:124236600-124250600	Strong transcription	Fetal Stomach	stomach
33	chr8:124236600-124251000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr8:124236600-124251000	Strong transcription	Placenta	Placenta
35	chr8:124236600-124251200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:124236600-124251200	Strong transcription	K562	blood
37	chr8:124236800-124248400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:124237000-124245600	Strong transcription	Fetal Lung	lung
39	chr8:124237200-124247800	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr8:124237400-124249400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr8:124237600-124250200	Strong transcription	Hela-S3	cervix
42	chr8:124237600-124251400	Strong transcription	Duodenum Mucosa	Duodenum
43	chr8:124237800-124245800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:124238200-124246200	Weak transcription	Fetal Heart	heart
45	chr8:124238400-124250200	Strong transcription	Gastric	stomach
46	chr8:124238800-124251400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:124239000-124247400	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr8:124239000-124247800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr8:124239400-124251600	Strong transcription	Fetal Thymus	thymus
50	chr8:124239800-124247800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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