Variant report

Variant	rs13116397
Chromosome Location	chr4:15774984-15774985
allele	A/C
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	POLR2A	chr4:15774954-15775386	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:15481667..15484454-chr4:15772642..15775403,2	MCF-7	breast:
2	chr4:15745915..15748047-chr4:15772262..15775120,2	MCF-7	breast:

Variant related genes	Relation type
CD38	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10002171	0.83[ASN][1000 genomes]
rs10002394	0.83[ASN][1000 genomes]
rs10013987	0.84[ASN][1000 genomes]
rs11930667	0.83[ASN][1000 genomes]
rs11939567	0.90[ASN][1000 genomes]
rs13116669	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13120356	0.83[ASN][1000 genomes]
rs13121175	0.83[ASN][1000 genomes]
rs13134405	0.82[ASN][1000 genomes]
rs16892396	0.83[ASN][1000 genomes]
rs16892407	0.89[ASN][1000 genomes]
rs34347605	0.82[ASN][1000 genomes]
rs34689171	0.82[ASN][1000 genomes]
rs35802132	0.82[ASN][1000 genomes]
rs3756241	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3775954	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4257648	0.89[ASN][1000 genomes]
rs4698417	0.89[ASN][1000 genomes]
rs68040828	0.83[ASN][1000 genomes]
rs6824164	0.83[ASN][1000 genomes]
rs6831585	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6839601	0.89[ASN][1000 genomes]
rs6841924	0.82[ASN][1000 genomes]
rs7681005	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv10460	chr4:15757611-15818206	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2760884	chr4:15759680-15776181	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1013204	chr4:15762970-15836237	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15764800-15775800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr4:15767200-15779400	Weak transcription	Spleen	Spleen
3	chr4:15768200-15775200	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr4:15768200-15777200	Enhancers	Fetal Thymus	thymus
5	chr4:15769200-15778600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:15771200-15779400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr4:15772400-15775800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:15772400-15776000	Enhancers	Thymus	Thymus
9	chr4:15772400-15776200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:15772400-15776600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:15772800-15776200	Enhancers	Duodenum Mucosa	Duodenum
12	chr4:15772800-15778000	Flanking Active TSS	Dnd41	blood
13	chr4:15773400-15776000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr4:15773600-15779200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:15773800-15775000	Enhancers	GM12878-XiMat	blood
16	chr4:15774000-15779800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:15774200-15775600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr4:15774200-15775600	Enhancers	A549	lung
19	chr4:15774400-15775400	Weak transcription	Primary T cells from cord blood	blood
20	chr4:15774400-15779400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr4:15774400-15779600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr4:15774400-15780000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr4:15774400-15780000	Weak transcription	Small Intestine	intestine
24	chr4:15774600-15775600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:15774600-15779200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr4:15774600-15779600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr4:15774800-15776400	Enhancers	Stomach Mucosa	stomach
28	chr4:15774800-15779000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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