Variant report

Variant	rs2817716
Chromosome Location	chr6:24880814-24880815
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	CEBPB	chr6:24880672-24881208	Hela-S3	cervix:	n/a	n/a
2	EP300	chr6:24880724-24881089	Hela-S3	cervix:	n/a	chr6:24880809-24880823 chr6:24880959-24880967
3	GATA3	chr6:24880228-24880845	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
FAM65B	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1007237	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2747684	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2747685	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2817715	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2817719	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs926850	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][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	nsv830609	chr6:24712086-24896647	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1022966	chr6:24763776-25154212	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv538160	chr6:24763776-25154212	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1019504	chr6:24869174-24994758	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24855200-24895000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
2	chr6:24856200-24882400	Weak transcription	NHLF	lung
3	chr6:24859400-24886800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:24862800-24885600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr6:24862800-24887400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
6	chr6:24870400-24883800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr6:24871800-24886800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr6:24874800-24883200	Weak transcription	Brain Anterior Caudate	brain
9	chr6:24874800-24883600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:24875400-24882000	Weak transcription	NHDF-Ad	bronchial
11	chr6:24875600-24886800	Weak transcription	Fetal Heart	heart
12	chr6:24875800-24887800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:24876000-24901800	Weak transcription	Spleen	Spleen
14	chr6:24876200-24882600	Weak transcription	HSMMtube	muscle
15	chr6:24877000-24883000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:24877000-24888000	Genic enhancers	Primary T cells from cord blood	blood
17	chr6:24877400-24883400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr6:24877400-24888000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:24877600-24881400	Weak transcription	Psoas Muscle	Psoas
20	chr6:24877800-24882000	Strong transcription	Primary B cells from cord blood	blood
21	chr6:24878400-24881200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:24878400-24881800	Weak transcription	Fetal Thymus	thymus
23	chr6:24878400-24884000	Weak transcription	Esophagus	oesophagus
24	chr6:24878400-24887800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr6:24878400-24899800	Weak transcription	Thymus	Thymus
26	chr6:24878600-24882200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:24878800-24885400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr6:24879000-24881000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr6:24879200-24888200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr6:24879400-24882800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:24879400-24883200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr6:24879600-24881000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr6:24879800-24881600	Weak transcription	GM12878-XiMat	blood
34	chr6:24879800-24884400	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr6:24880000-24881200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr6:24880000-24881200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:24880000-24881600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:24880000-24881600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr6:24880000-24882400	Enhancers	Fetal Lung	lung
40	chr6:24880000-24889200	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr6:24880200-24881400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr6:24880200-24882400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr6:24880200-24883600	Weak transcription	Osteobl	bone
44	chr6:24880200-24883800	Enhancers	Hela-S3	cervix
45	chr6:24880200-24886600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr6:24880400-24881400	Strong transcription	Primary B cells from peripheral blood	blood
47	chr6:24880400-24883600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr6:24880400-24888000	Weak transcription	Brain Germinal Matrix	brain
49	chr6:24880600-24881400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:24880600-24881800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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