Variant report

Variant	rs3793718
Chromosome Location	chr10:6254656-6254657
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:6253749..6256671-chr10:6278525..6281459,3	MCF-7	breast:
2	chr10:6131719..6134216-chr10:6253022..6254903,2	MCF-7	breast:
3	chr10:6249765..6251465-chr10:6254272..6257150,3	MCF-7	breast:
4	chr10:6249451..6252477-chr10:6252656..6257901,6	MCF-7	breast:
5	chr10:6254275..6256496-chr10:6272419..6274768,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2073628	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2148294	0.82[EUR][1000 genomes]
rs72777866	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72777872	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72777876	0.91[EUR][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	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1040721	chr10:6155144-6322566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv540476	chr10:6155144-6322566	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1054044	chr10:6155144-6487217	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv1041039	chr10:6217724-6354858	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv894833	chr10:6237156-6261704	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv894834	chr10:6237156-6272169	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv894835	chr10:6242176-6268422	Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv894836	chr10:6246678-6435374	Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	esv3371335	chr10:6250546-6254844	Genic enhancers Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv525622	chr10:6251252-6281215	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 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	chr10:6246000-6272200	Weak transcription	K562	blood
2	chr10:6246800-6256800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr10:6247000-6254800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr10:6247000-6255600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr10:6247000-6255600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr10:6247000-6255600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr10:6247000-6255600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr10:6247000-6255800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr10:6247000-6258000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr10:6247000-6280600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr10:6247200-6255000	Weak transcription	Hela-S3	cervix
12	chr10:6247200-6255400	Weak transcription	Liver	Liver
13	chr10:6247200-6255600	Weak transcription	Fetal Thymus	thymus
14	chr10:6247200-6255600	Weak transcription	HUVEC	blood vessel
15	chr10:6247200-6255800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr10:6247200-6255800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr10:6247200-6281000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr10:6247400-6255600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr10:6247400-6255600	Weak transcription	NHEK	skin
20	chr10:6247400-6255800	Weak transcription	Osteobl	bone
21	chr10:6247600-6255600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr10:6247800-6255800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr10:6249800-6255600	Weak transcription	Fetal Intestine Large	intestine
24	chr10:6250000-6255000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr10:6250000-6255400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr10:6250000-6255400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr10:6250200-6255400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr10:6250800-6255800	Weak transcription	HepG2	liver
29	chr10:6251200-6255200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr10:6251200-6255600	Weak transcription	GM12878-XiMat	blood
31	chr10:6251400-6255000	Weak transcription	Primary B cells from cord blood	blood
32	chr10:6252000-6258200	Weak transcription	Psoas Muscle	Psoas
33	chr10:6252800-6254800	Enhancers	Fetal Stomach	stomach
34	chr10:6253000-6255200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr10:6253000-6255200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr10:6253000-6255600	Enhancers	NH-A	brain
37	chr10:6253000-6255800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr10:6253000-6258000	Transcr. at gene 5' and 3'	A549	lung
39	chr10:6253200-6255200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr10:6253200-6255200	Enhancers	Ovary	ovary
41	chr10:6253200-6256200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr10:6253200-6256400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr10:6253200-6278800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr10:6253400-6257200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr10:6253400-6276600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr10:6253400-6276800	Strong transcription	Fetal Intestine Small	intestine
47	chr10:6253400-6278400	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr10:6253600-6255400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr10:6253600-6255600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr10:6253600-6255600	Weak transcription	Small Intestine	intestine

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