Variant report

Variant	rs12903602
Chromosome Location	chr15:99698550-99698551
allele	C/T
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:2)
LncRNA
region (count:1)
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	CTCF	chr15:99698434-99698721	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:99697354..99699660-chr15:99705124..99708746,3	K562	blood:
2	chr15:99697848..99700499-chr15:99704472..99706624,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PGPEP1L-3	chr15:99697436-99701345	ENSG00000259921.1

No data

Variant related genes	Relation type
TTC23	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs260090	0.88[CHB][hapmap];0.88[CHD][hapmap]
rs260115	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs260118	1.00[CHB][hapmap]
rs2602014	1.00[CHB][hapmap]
rs2602027	1.00[CHB][hapmap]
rs2602028	1.00[CHB][hapmap];0.91[YRI][hapmap]
rs2602039	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2623194	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2623196	0.85[CHB][hapmap];0.85[YRI][hapmap];0.80[ASN][1000 genomes]
rs2623197	0.88[CHB][hapmap]
rs2665082	0.83[TSI][hapmap]
rs7162708	0.83[CEU][hapmap];0.86[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531079	chr15:98907913-99878547	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1039575	chr15:98982045-99924685	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv869529	chr15:99416774-99903351	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv1050982	chr15:99450004-99725825	Enhancers Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv530685	chr15:99452377-99713365	Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv1045124	chr15:99504843-99847210	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv1038870	chr15:99510479-99768374	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv904543	chr15:99513231-99991506	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
10	nsv533926	chr15:99519820-99997114	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
11	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
12	nsv1051782	chr15:99621061-99792967	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	nsv916822	chr15:99621061-99878564	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv949203	chr15:99621061-99932797	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
15	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
16	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
17	nsv570716	chr15:99629901-99916332	Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
18	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99665000-99714200	Weak transcription	NHEK	skin
2	chr15:99673200-99789400	Weak transcription	Small Intestine	intestine
3	chr15:99674400-99704200	Weak transcription	Fetal Kidney	kidney
4	chr15:99676200-99703400	Weak transcription	GM12878-XiMat	blood
5	chr15:99678200-99708800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr15:99684600-99698800	Weak transcription	Aorta	Aorta
7	chr15:99684600-99706600	Weak transcription	Right Atrium	heart
8	chr15:99684800-99709200	Weak transcription	Colonic Mucosa	Colon
9	chr15:99684800-99721600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr15:99685000-99720200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:99689400-99699800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr15:99689600-99699000	Weak transcription	Dnd41	blood
13	chr15:99689600-99707600	Weak transcription	Brain Hippocampus Middle	brain
14	chr15:99689600-99709600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr15:99689800-99699400	Weak transcription	Brain Substantia Nigra	brain
16	chr15:99689800-99703400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr15:99689800-99709400	Weak transcription	Brain Angular Gyrus	brain
18	chr15:99690000-99708200	Weak transcription	Right Ventricle	heart
19	chr15:99690000-99709400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr15:99690200-99699000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr15:99690200-99699000	Weak transcription	A549	lung
22	chr15:99690200-99704800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr15:99690400-99705400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr15:99690400-99706600	Weak transcription	Spleen	Spleen
25	chr15:99690400-99707400	Weak transcription	Gastric	stomach
26	chr15:99690400-99709800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr15:99690600-99709000	Weak transcription	Fetal Heart	heart
28	chr15:99691800-99698600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr15:99691800-99699000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr15:99692000-99698600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr15:99692000-99707200	Weak transcription	HSMMtube	muscle
32	chr15:99692000-99717000	Weak transcription	HSMM	muscle
33	chr15:99692400-99698800	Weak transcription	Pancreas	Pancrea
34	chr15:99692400-99699200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:99692600-99698800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:99693000-99700600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr15:99693400-99698800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr15:99694800-99698800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr15:99694800-99699200	Weak transcription	Fetal Lung	lung
40	chr15:99694800-99699400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr15:99694800-99702800	Weak transcription	HUVEC	blood vessel
42	chr15:99694800-99711000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr15:99694800-99721200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr15:99694800-99732600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:99694800-99732600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr15:99695200-99699200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr15:99695200-99721600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr15:99695200-99721800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr15:99695200-99732400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr15:99696000-99700600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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