Variant report

Variant	rs17249633
Chromosome Location	chr10:3843745-3843746
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:3842625..3845056-chr10:3845647..3847558,3	MCF-7	breast:
2	chr10:3822110..3831216-chr10:3843525..3857606,41	MCF-7	breast:
3	chr10:3843369..3848661-chr10:3868056..3873522,8	K562	blood:

Variant related genes	Relation type
ENSG00000067082	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10508267	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10508268	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11596884	0.98[EUR][1000 genomes]
rs12248147	1.00[CHB][hapmap];0.80[AMR][1000 genomes]
rs12761012	0.80[AMR][1000 genomes]
rs12773202	0.94[EUR][1000 genomes]
rs34414469	0.80[AMR][1000 genomes]
rs61829729	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61829733	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61829734	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043680	chr10:3551191-4038002	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv540447	chr10:3777819-3847629	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv540450	chr10:3804336-3859639	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv540451	chr10:3804336-3868002	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv540453	chr10:3811996-3847629	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv540455	chr10:3820854-3847629	Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	46 gene(s)	inside rSNPs	n/a
7	nsv540456	chr10:3820854-3868002	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	n/a
8	nsv540457	chr10:3822531-3847629	Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	46 gene(s)	inside rSNPs	n/a
9	nsv1045571	chr10:3839308-3874184	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
10	nsv540458	chr10:3839308-3874184	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
11	esv3324337	chr10:3842852-3847150	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:3829200-3844800	Weak transcription	Right Ventricle	heart
2	chr10:3833000-3847600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:3834800-3846600	Weak transcription	NHLF	lung
4	chr10:3838600-3844800	Weak transcription	Gastric	stomach
5	chr10:3840000-3846400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr10:3840400-3844400	Weak transcription	K562	blood
7	chr10:3841400-3844800	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr10:3841800-3846400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr10:3842000-3844600	Weak transcription	Dnd41	blood
10	chr10:3842000-3844800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr10:3842400-3843800	Enhancers	Primary T cells from cord blood	blood
12	chr10:3842800-3843800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr10:3842800-3843800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr10:3842800-3846400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr10:3842800-3846400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr10:3843000-3844600	Enhancers	Fetal Heart	heart
17	chr10:3843000-3847800	Enhancers	Primary T cells fromperipheralblood	blood
18	chr10:3843000-3852000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr10:3843200-3844400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr10:3843200-3844600	Enhancers	Fetal Muscle Leg	muscle
21	chr10:3843400-3843800	Enhancers	Fetal Thymus	thymus
22	chr10:3843400-3843800	Enhancers	HepG2	liver
23	chr10:3843400-3844400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr10:3843400-3844600	Weak transcription	Lung	lung
25	chr10:3843400-3845400	Enhancers	Left Ventricle	heart
26	chr10:3843400-3846400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr10:3843400-3848200	Weak transcription	Spleen	Spleen
28	chr10:3843600-3843800	Enhancers	HSMMtube	muscle
29	chr10:3843600-3844800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr10:3843600-3844800	Weak transcription	Fetal Lung	lung
31	chr10:3843600-3845000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr10:3843600-3845400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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