Variant report

Variant	rs28409610
Chromosome Location	chr15:44827024-44827025
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:44827010-44827028	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPG11-1	chr15:44825691-44827672	ENSG00000179523.4
2	lnc-SPG11-1	chr15:44826613-44827672	NONHSAT042162
3	lnc-SPG11-1	chr15:44826703-44827672	NR_034170
4	lnc-SPG11-1	chr15:44826703-44827672	NR_034171
5	lnc-SPG11-1	chr15:44826735-44827672	NONHSAT042163

No data

Variant related genes	Relation type
EIF3J	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11070431	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs11634253	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11635596	1.00[LWK][hapmap]
rs12437493	1.00[LWK][hapmap]
rs28458328	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28486675	1.00[CEU][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs28566474	1.00[LWK][hapmap]
rs28661212	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34327950	1.00[LWK][hapmap]
rs961163	1.00[CEU][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44721000-44828000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:44750000-44827400	Weak transcription	Pancreas	Pancrea
3	chr15:44750200-44828000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:44757000-44827400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr15:44778000-44827800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr15:44778000-44827800	Weak transcription	Psoas Muscle	Psoas
7	chr15:44779800-44827800	Weak transcription	Aorta	Aorta
8	chr15:44783200-44827800	Weak transcription	NHLF	lung
9	chr15:44783600-44828000	Weak transcription	HSMMtube	muscle
10	chr15:44790400-44827200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr15:44790800-44827800	Weak transcription	Small Intestine	intestine
12	chr15:44796200-44827200	Weak transcription	K562	blood
13	chr15:44796200-44827800	Weak transcription	Brain Anterior Caudate	brain
14	chr15:44796200-44828000	Weak transcription	Brain Substantia Nigra	brain
15	chr15:44796400-44827800	Weak transcription	Esophagus	oesophagus
16	chr15:44796400-44827800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr15:44797000-44828000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:44798800-44828000	Weak transcription	A549	lung
19	chr15:44800800-44828000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr15:44807400-44828200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr15:44807800-44827200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr15:44812800-44827800	Weak transcription	Spleen	Spleen
23	chr15:44814000-44827600	Weak transcription	NH-A	brain
24	chr15:44815200-44827400	Weak transcription	Osteobl	bone
25	chr15:44815400-44827400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr15:44815800-44827200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:44815800-44827200	Weak transcription	Ovary	ovary
28	chr15:44815800-44827800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr15:44815800-44828000	Weak transcription	Fetal Kidney	kidney
30	chr15:44816000-44827800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr15:44816400-44827800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr15:44816600-44827400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr15:44816600-44828000	Weak transcription	Brain Angular Gyrus	brain
34	chr15:44816600-44828000	Weak transcription	Thymus	Thymus
35	chr15:44816800-44827200	Weak transcription	HepG2	liver
36	chr15:44816800-44827400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr15:44816800-44827600	Weak transcription	HUVEC	blood vessel
38	chr15:44817200-44827400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr15:44817400-44827600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr15:44817400-44827600	Weak transcription	GM12878-XiMat	blood
41	chr15:44817600-44827400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr15:44817600-44827400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr15:44817600-44827400	Weak transcription	Colonic Mucosa	Colon
44	chr15:44817600-44827600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr15:44817600-44827600	Weak transcription	Primary B cells from cord blood	blood
46	chr15:44817600-44827600	Weak transcription	Primary T cells from cord blood	blood
47	chr15:44817600-44827600	Weak transcription	Fetal Brain Male	brain
48	chr15:44817600-44828000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr15:44817600-44828200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr15:44817800-44827600	Weak transcription	Fetal Intestine Large	intestine

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