Variant report

Variant	rs12651439
Chromosome Location	chr4:15778848-15778849
allele	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	POLR2A	chr4:15778649-15781332	Raji	blood:	n/a	n/a

Variant related genes	Relation type
CD38	TF binding region

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11574921	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12644506	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2302229	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3796867	0.91[ASN][1000 genomes]
rs4634217	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73224697	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73226560	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73226564	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73226572	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73226574	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7436920	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[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	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
5	nsv1010597	chr4:15776181-15836237	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer 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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15767200-15779400	Weak transcription	Spleen	Spleen
2	chr4:15771200-15779400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr4:15773600-15779200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr4:15774000-15779800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:15774400-15779400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:15774400-15779600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr4:15774400-15780000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:15774400-15780000	Weak transcription	Small Intestine	intestine
9	chr4:15774600-15779200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr4:15774600-15779600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr4:15774800-15779000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr4:15775200-15779200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr4:15775800-15779000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:15776000-15779600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr4:15776200-15779000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:15776200-15779200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:15776200-15779400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr4:15776200-15780000	Weak transcription	Right Atrium	heart
19	chr4:15776600-15779600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:15776800-15779200	Weak transcription	Primary T cells from cord blood	blood
21	chr4:15777400-15779600	Weak transcription	A549	lung
22	chr4:15777400-15779600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr4:15777400-15779800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr4:15778400-15779800	Flanking Active TSS	Dnd41	blood
25	chr4:15778600-15779000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr4:15778600-15779200	Enhancers	GM12878-XiMat	blood
27	chr4:15778600-15779400	Enhancers	Fetal Thymus	thymus
28	chr4:15778800-15779400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr4:15778800-15779600	Enhancers	Primary B cells from peripheral blood	blood
30	chr4:15778800-15779800	Enhancers	Primary B cells from cord blood	blood
31	chr4:15778800-15779800	Flanking Active TSS	Thymus	Thymus

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