Variant report

Variant	rs2899650
Chromosome Location	chr15:59982997-59982998
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:59980032-59984022	A549	lung:	n/a	n/a
2	CTCF	chr15:59982860-59983010	GM12869	blood:	n/a	n/a
3	ZNF384	chr15:59982832-59983857	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:59979548..59984505-chr15:60688391..60691990,7	K562	blood:
2	chr15:59946363..59951356-chr15:59979923..59984049,7	K562	blood:
3	chr15:59982442..59985079-chr15:60617660..60619822,3	K562	blood:
4	chr15:59945879..59953077-chr15:59978622..59984049,13	K562	blood:
5	chr15:59982661..59985453-chr15:60307670..60309447,2	K562	blood:
6	chr15:59981413..59984505-chr15:60688549..60691597,3	K562	blood:

No data

Variant related genes	Relation type
BNIP2	TF binding region
ENSG00000182718	Chromatin interaction
ENSG00000140307	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12050786	0.85[EUR][1000 genomes]
rs12161947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12161992	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12161993	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17302608	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2306359	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28395445	0.85[EUR][1000 genomes]
rs28654927	0.84[EUR][1000 genomes]
rs28883924	0.84[EUR][1000 genomes]
rs4775198	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6151443	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6151457	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6151492	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6151497	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6151505	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6151522	0.85[EUR][1000 genomes]
rs6151534	0.85[EUR][1000 genomes]
rs6151538	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6151540	0.85[EUR][1000 genomes];0.80[ASN][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	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv533240	chr15:59858093-59998176	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv1824522	chr15:59919844-59987181	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59982200-59983200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:59982200-59983400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr15:59982200-59983400	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr15:59982200-59986600	Weak transcription	Stomach Mucosa	stomach
5	chr15:59982400-59983000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr15:59982400-59983200	Enhancers	Fetal Intestine Small	intestine
7	chr15:59982400-59983400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr15:59982400-59983400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr15:59982400-59983400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr15:59982400-59983400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr15:59982400-59983400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr15:59982400-59983400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr15:59982400-59983400	Enhancers	HepG2	liver
14	chr15:59982400-59983600	Enhancers	Colon Smooth Muscle	Colon
15	chr15:59982400-59984200	Enhancers	Primary B cells from peripheral blood	blood
16	chr15:59982600-59983000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr15:59982600-59983000	Weak transcription	Colonic Mucosa	Colon
18	chr15:59982600-59983200	Enhancers	Brain Hippocampus Middle	brain
19	chr15:59982600-59983200	Enhancers	Fetal Intestine Large	intestine
20	chr15:59982600-59983200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr15:59982600-59983400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr15:59982600-59983600	Enhancers	Hela-S3	cervix
23	chr15:59982600-59987200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:59982800-59983000	Enhancers	Primary hematopoietic stem cells	blood
25	chr15:59982800-59983000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr15:59982800-59983000	Enhancers	Thymus	Thymus
27	chr15:59982800-59983000	Enhancers	Dnd41	blood
28	chr15:59982800-59983200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr15:59982800-59983400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr15:59982800-59983600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr15:59982800-59983600	Enhancers	A549	lung
32	chr15:59982800-59983800	Enhancers	Primary B cells from cord blood	blood
33	chr15:59982800-59983800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr15:59982800-59984000	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr15:59982800-59984200	Enhancers	Liver	Liver
36	chr15:59982800-59986400	Weak transcription	Duodenum Mucosa	Duodenum

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