Variant report

Variant	rs17731305
Chromosome Location	chr7:18329329-18329330
allele	A/G/T
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	chr7:18329208-18329413	ECC-1	luminal epithelium:	n/a	chr7:18329301-18329312 chr7:18329301-18329314 chr7:18329339-18329352
2	CEBPB	chr7:18329159-18329444	K562	blood:	n/a	chr7:18329301-18329312 chr7:18329301-18329314 chr7:18329339-18329352
3	CEBPB	chr7:18329187-18329443	A549	lung:	n/a	chr7:18329301-18329312 chr7:18329301-18329314 chr7:18329339-18329352
4	CEBPB	chr7:18329191-18329470	HepG2	liver:	n/a	chr7:18329301-18329312 chr7:18329301-18329314 chr7:18329339-18329352
5	CEBPB	chr7:18329174-18329463	IMR90	lung:	n/a	chr7:18329301-18329312 chr7:18329301-18329314 chr7:18329339-18329352
6	JUND	chr7:18329240-18329381	HepG2	liver:	n/a	n/a
7	CEBPB	chr7:18329159-18329461	Hela-S3	cervix:	n/a	chr7:18329301-18329312 chr7:18329301-18329314 chr7:18329339-18329352
8	CEBPB	chr7:18329213-18329481	H1-hESC	embryonic stem cell:	n/a	chr7:18329301-18329312 chr7:18329301-18329314 chr7:18329339-18329352

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:18321787..18324563-chr7:18327488..18329360,2	K562	blood:

Variant related genes	Relation type
HDAC9	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1178317	0.84[EUR][1000 genomes]
rs1178319	0.84[EUR][1000 genomes]
rs1178330	0.87[EUR][1000 genomes]
rs1178375	0.84[EUR][1000 genomes]
rs1178376	0.87[EUR][1000 genomes]
rs1178377	0.87[EUR][1000 genomes]
rs1178378	0.84[EUR][1000 genomes]
rs1178379	0.87[EUR][1000 genomes]
rs1178380	0.87[EUR][1000 genomes]
rs1178381	0.87[EUR][1000 genomes]
rs1178383	0.84[EUR][1000 genomes]
rs1178384	0.84[EUR][1000 genomes]
rs1178385	0.80[EUR][1000 genomes]
rs17346975	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17347060	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17347173	0.85[AMR][1000 genomes]
rs17418779	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17418786	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17418807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17663430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17663510	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17674701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17731016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17731333	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs302149	0.87[EUR][1000 genomes]
rs302151	0.80[EUR][1000 genomes]
rs302154	0.84[EUR][1000 genomes]
rs302156	0.87[EUR][1000 genomes]
rs302157	0.87[EUR][1000 genomes]
rs302158	0.84[EUR][1000 genomes]
rs413369	0.84[EUR][1000 genomes]
rs455181	0.87[EUR][1000 genomes]
rs7784302	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1026629	chr7:17862477-18362404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1025023	chr7:17865796-18357630	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv606357	chr7:17938491-18375245	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv606358	chr7:18084843-18416097	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
8	nsv887810	chr7:18193589-18391557	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv830914	chr7:18196730-18376047	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1029901	chr7:18205779-18387956	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv830916	chr7:18254299-18433349	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv887811	chr7:18295790-18346230	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18327200-18329800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr7:18327200-18332000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:18327800-18329400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:18328000-18329400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:18328000-18329800	Enhancers	Primary B cells from peripheral blood	blood
6	chr7:18328400-18329400	Enhancers	Primary hematopoietic stem cells	blood
7	chr7:18328600-18329400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr7:18328600-18329400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:18328600-18330200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr7:18328600-18332200	Enhancers	Fetal Heart	heart
11	chr7:18328800-18330000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:18329200-18329600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr7:18329200-18329800	Enhancers	Brain Germinal Matrix	brain
14	chr7:18329200-18330000	Enhancers	Fetal Thymus	thymus
15	chr7:18329200-18330000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr7:18329200-18330200	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr7:18329200-18330200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:18329200-18331600	Enhancers	Small Intestine	intestine

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