Variant report

Variant	rs997315
Chromosome Location	chr17:18085286-18085287
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:18085171-18087601	HepG2	liver:	n/a	n/a
2	KAP1	chr17:18085280-18087212	U2OS	brain:	n/a	n/a
3	MAX	chr17:18085216-18085374	GM12878	blood:	n/a	n/a
4	POLR2A	chr17:18085216-18087458	GM12891	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:18085249..18088032-chr17:18163903..18166046,2	MCF-7	breast:
2	chr17:18057350..18061680-chr17:18083813..18088656,8	K562	blood:
3	chr17:18057503..18062681-chr17:18084968..18089396,8	MCF-7	breast:
4	chr17:18085197..18089449-chr17:18160313..18164902,6	K562	blood:
5	chr17:18061742..18067292-chr17:18083221..18089651,7	K562	blood:
6	chr17:18085097..18087844-chr17:18150702..18152403,2	MCF-7	breast:
7	chr17:18063606..18070028-chr17:18081885..18087934,10	MCF-7	breast:

No data

Variant related genes	Relation type
ALKBH5	TF binding region
ENSG00000091536	Chromatin interaction
ENSG00000177427	Chromatin interaction
ENSG00000177731	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10048161	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10451244	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11078411	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11078412	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11652964	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11653988	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11654146	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11654177	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11654741	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11655588	0.94[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11655731	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11655797	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11656035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11657194	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11658477	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11868832	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11868886	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11869582	0.87[CEU][hapmap]
rs11871039	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11871491	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12600694	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13284	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1563371	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1563373	0.93[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16960980	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16960983	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16960986	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16960990	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16960996	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2015336	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28811342	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3088233	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34474249	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36058389	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55918833	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58441148	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59354912	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60285171	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62072464	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62072465	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62072466	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62072467	0.90[EUR][1000 genomes]
rs62072468	0.90[EUR][1000 genomes]
rs62072496	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62072497	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62072498	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62072500	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62073602	0.90[EUR][1000 genomes]
rs62073603	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62073604	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62073605	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62073606	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62073607	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62073608	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62073609	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62073611	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62073615	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62073649	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62073650	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6502640	0.94[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7207276	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs735960	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8065026	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs8069094	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8077577	0.94[CEU][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9916193	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv907770	chr17:18003845-18098018	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv907771	chr17:18013560-18098018	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv907772	chr17:18030524-18098018	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv510702	chr17:18037676-18116801	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18062000-18085600	Weak transcription	Brain Angular Gyrus	brain
2	chr17:18064800-18085400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr17:18072400-18085400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr17:18075600-18085400	Weak transcription	Brain Germinal Matrix	brain
5	chr17:18076000-18085400	Weak transcription	Esophagus	oesophagus
6	chr17:18076000-18086000	Weak transcription	Ovary	ovary
7	chr17:18077400-18085400	Weak transcription	Spleen	Spleen
8	chr17:18079200-18085400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr17:18080000-18085400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr17:18080200-18085400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr17:18080200-18085400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr17:18080200-18085400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr17:18080400-18085400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr17:18081400-18085400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr17:18081400-18085400	Weak transcription	Brain Substantia Nigra	brain
16	chr17:18082600-18085400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr17:18082600-18085400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr17:18082800-18085400	Weak transcription	Colonic Mucosa	Colon
19	chr17:18083000-18085400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr17:18083000-18085400	Enhancers	Osteobl	bone
21	chr17:18083200-18085600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:18083200-18085600	Weak transcription	HSMMtube	muscle
23	chr17:18083400-18085400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:18083400-18085400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr17:18083400-18085400	Weak transcription	Fetal Kidney	kidney
26	chr17:18083400-18085600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr17:18084200-18085400	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr17:18084200-18085400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr17:18084200-18085600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr17:18084400-18085400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr17:18084400-18085400	Enhancers	GM12878-XiMat	blood
32	chr17:18084400-18085600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr17:18084400-18085600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr17:18084400-18085600	Enhancers	Fetal Muscle Trunk	muscle
35	chr17:18084400-18085600	Enhancers	Fetal Muscle Leg	muscle
36	chr17:18084400-18085800	Enhancers	Fetal Thymus	thymus
37	chr17:18084400-18086000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr17:18084400-18086000	Enhancers	Placenta Amnion	Placenta Amnion
39	chr17:18084600-18085400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr17:18084600-18085400	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr17:18084600-18085400	Enhancers	HepG2	liver
42	chr17:18084600-18085600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr17:18084600-18085600	Enhancers	Colon Smooth Muscle	Colon
44	chr17:18084600-18085600	Enhancers	Fetal Stomach	stomach
45	chr17:18084600-18085600	Enhancers	NH-A	brain
46	chr17:18084600-18085800	Enhancers	HMEC	breast
47	chr17:18084800-18085400	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr17:18084800-18085400	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr17:18084800-18085600	Enhancers	Primary T cells fromperipheralblood	blood
50	chr17:18084800-18085600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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