Variant report

Variant	rs12504480
Chromosome Location	chr4:15770322-15770323
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10002171	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10002394	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10013987	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11930667	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13120356	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13121175	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13134405	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16892396	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34347605	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34689171	0.85[ASN][1000 genomes]
rs35802132	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs68040828	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6824164	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6841924	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7681005	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv967727	chr4:15768208-15770683	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15764800-15775800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr4:15766800-15771000	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr4:15766800-15771200	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr4:15767000-15771200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr4:15767200-15771000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:15767200-15771200	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr4:15767200-15771200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:15767200-15771200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr4:15767200-15779400	Weak transcription	Spleen	Spleen
10	chr4:15768000-15771000	Weak transcription	Right Ventricle	heart
11	chr4:15768200-15770600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:15768200-15772400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr4:15768200-15775200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr4:15768200-15777200	Enhancers	Fetal Thymus	thymus
15	chr4:15768400-15772800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr4:15768800-15770800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr4:15768800-15771000	Weak transcription	GM12878-XiMat	blood
18	chr4:15768800-15773400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:15768800-15774800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr4:15769000-15770600	Enhancers	Dnd41	blood
21	chr4:15769000-15771200	Enhancers	Primary T cells from cord blood	blood
22	chr4:15769000-15772400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:15769000-15772400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:15769000-15772800	Weak transcription	Primary B cells from cord blood	blood
25	chr4:15769000-15772800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr4:15769000-15773400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr4:15769200-15778600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr4:15769800-15772400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:15769800-15772400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:15769800-15773400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr4:15770000-15770800	Weak transcription	Thymus	Thymus
32	chr4:15770000-15773000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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