Variant report

Variant	rs7213069
Chromosome Location	chr17:33761988-33761989
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	EBF1	chr17:33761964-33762084	GM12878	blood:	n/a	chr17:33762007-33762018 chr17:33762007-33762020 chr17:33762009-33762018

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:33760769..33763748-chr17:33765471..33767342,2	MCF-7	breast:

Variant related genes	Relation type
SLFN12	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1060879	0.93[AFR][1000 genomes]
rs16970912	0.87[AFR][1000 genomes]
rs1849740	0.90[AFR][1000 genomes]
rs58874528	0.83[AFR][1000 genomes]
rs59491817	0.84[AFR][1000 genomes]
rs7216628	0.87[AFR][1000 genomes]
rs7217701	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055936	chr17:33327166-33884184	Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer 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	112 gene(s)	inside rSNPs	diseases
2	nsv543317	chr17:33327166-33884184	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers 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	112 gene(s)	inside rSNPs	diseases
3	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv574741	chr17:33552275-33827134	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
5	nsv457725	chr17:33664044-33774159	Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv574743	chr17:33664044-33774159	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv515566	chr17:33664818-33768199	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1064831	chr17:33676494-33768199	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv2762399	chr17:33676506-33768199	Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv908077	chr17:33677495-33763678	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv908078	chr17:33677495-33769862	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv869869	chr17:33677545-33773100	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	esv3346898	chr17:33680445-33768671	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv574746	chr17:33684035-33762317	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv457726	chr17:33684035-33763678	Bivalent/Poised TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv574747	chr17:33684035-33763678	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	nsv457727	chr17:33684035-33766947	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv574748	chr17:33684035-33766947	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv457728	chr17:33684035-33768199	Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
20	nsv574749	chr17:33684035-33768199	Enhancers Genic enhancers Strong transcription Weak 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	10 gene(s)	inside rSNPs	diseases
21	nsv457730	chr17:33684107-33763678	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
22	nsv574750	chr17:33684107-33763678	Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
23	nsv1056952	chr17:33684107-33766206	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
24	nsv1055525	chr17:33684107-33768199	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
25	nsv1067402	chr17:33684107-33769206	Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
26	nsv1056116	chr17:33691457-33815452	Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
27	esv3432530	chr17:33738621-33802241	Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33760200-33762000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:33760200-33765600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:33760600-33762000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr17:33760600-33762000	Enhancers	Left Ventricle	heart
5	chr17:33760600-33762400	Enhancers	Dnd41	blood
6	chr17:33760600-33762600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr17:33760600-33774400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr17:33761000-33762000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
9	chr17:33761000-33762000	Enhancers	Fetal Muscle Leg	muscle
10	chr17:33761000-33763400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr17:33761000-33773400	Weak transcription	Primary T cells from cord blood	blood
12	chr17:33761000-33774200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr17:33761000-33774400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr17:33761000-33774400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr17:33761000-33774400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr17:33761000-33775200	Weak transcription	Spleen	Spleen
17	chr17:33761200-33762000	Enhancers	NHDF-Ad	bronchial
18	chr17:33761200-33762000	Enhancers	Osteobl	bone
19	chr17:33761200-33762200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr17:33761200-33767600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr17:33761200-33767800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr17:33761200-33767800	Weak transcription	GM12878-XiMat	blood
23	chr17:33761200-33771000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr17:33761200-33774000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr17:33761200-33774400	Weak transcription	Primary B cells from cord blood	blood
26	chr17:33761200-33774400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr17:33761200-33774400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr17:33761200-33774400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr17:33761200-33774400	Weak transcription	Fetal Thymus	thymus
30	chr17:33761200-33774400	Weak transcription	HMEC	breast
31	chr17:33761200-33774600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr17:33761400-33767200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr17:33761400-33770600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr17:33761400-33770600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr17:33761400-33771000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr17:33761400-33775200	Weak transcription	Lung	lung
37	chr17:33761600-33762200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr17:33761600-33763800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr17:33761800-33762000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
40	chr17:33761800-33762000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr17:33761800-33762200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
42	chr17:33761800-33770400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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