Variant report

Variant	rs16903706
Chromosome Location	chr5:37723672-37723673
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:125)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:125 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:37723660-37723810	GM12866	blood:	n/a	n/a
2	CTCF	chr5:37723660-37723810	HCFaa	heart:	n/a	n/a
3	CTCF	chr5:37723620-37723770	HPF	lung:	n/a	n/a
4	CTCF	chr5:37723662-37723810	GM12892	blood:	n/a	n/a
5	CTCF	chr5:37723539-37723929	K562	blood:	n/a	n/a
6	CTCF	chr5:37723624-37723840	Fibrobl	skin:	n/a	n/a
7	CTCF	chr5:37723660-37723810	HMEC	breast:	n/a	n/a
8	CTCF	chr5:37723533-37723959	MCF-7	breast:	n/a	n/a
9	CTCF	chr5:37723598-37723859	Gliobla	brain:	n/a	n/a
10	SMC3	chr5:37723590-37723891	GM12878	blood:	n/a	n/a
11	CTCF	chr5:37723511-37723926	K562	blood:	n/a	n/a
12	CTCF	chr5:37723660-37723810	A549	lung:	n/a	n/a
13	CTCF	chr5:37723640-37723790	GM12868	blood:	n/a	n/a
14	CTCF	chr5:37723617-37723834	HepG2	liver:	n/a	n/a
15	CTCF	chr5:37723640-37723790	AG09309	skin:	n/a	n/a
16	CTCF	chr5:37723651-37723815	MCF-7	breast:	n/a	n/a
17	CTCF	chr5:37723639-37723817	GM10266	blood:	n/a	n/a
18	RAD21	chr5:37723610-37723839	A549	lung:	n/a	n/a
19	MAZ	chr5:37723593-37723861	K562	blood:	n/a	n/a
20	RAD21	chr5:37723619-37723810	K562	blood:	n/a	n/a
21	JUND	chr5:37722928-37724070	SK-N-SH	brain:	n/a	chr5:37723207-37723218 chr5:37723718-37723729
22	CTCF	chr5:37723537-37723837	A549	lung:	n/a	n/a
23	SMC3	chr5:37723569-37723807	K562	blood:	n/a	n/a
24	RAD21	chr5:37723614-37723857	K562	blood:	n/a	n/a
25	CTCF	chr5:37723598-37723867	MCF-7	breast:	n/a	n/a
26	CTCF	chr5:37723641-37723829	GM19238	blood:	n/a	n/a
27	CTCF	chr5:37723660-37723810	GM06990	blood:	n/a	n/a
28	CTCF	chr5:37723660-37723810	Hela-S3	cervix:	n/a	n/a
29	RAD21	chr5:37723537-37723849	HepG2	liver:	n/a	n/a
30	CTCF	chr5:37723668-37723812	GM10248	blood:	n/a	n/a
31	SMC3	chr5:37723571-37723898	HepG2	liver:	n/a	n/a
32	CTCF	chr5:37723620-37723770	BJ	skin:	n/a	n/a
33	CTCF	chr5:37723489-37723937	MCF-7	breast:	n/a	n/a
34	CTCF	chr5:37723632-37723848	MCF-7	breast:	n/a	n/a
35	CTCF	chr5:37723635-37723842	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr5:37723660-37723810	AoAF	blood vessel:	n/a	n/a
37	RAD21	chr5:37723533-37723969	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr5:37723640-37723790	SAEC	small airway:	n/a	n/a
39	CTCF	chr5:37723645-37723838	MCF-7	breast:	n/a	n/a
40	CTCF	chr5:37723620-37723770	AG09319	gingival:	n/a	n/a
41	TCF12	chr5:37722628-37723988	SK-N-SH	brain:	n/a	n/a
42	GATA3	chr5:37722648-37723852	SK-N-SH	brain:	n/a	n/a
43	CTCF	chr5:37723660-37723810	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr5:37723640-37723790	HEK293	kidney:	n/a	n/a
45	CTCF	chr5:37723652-37723823	GM12891	blood:	n/a	n/a
46	CTCF	chr5:37723444-37724125	A549	lung:	n/a	n/a
47	CTCF	chr5:37723631-37723801	GM19239	blood:	n/a	n/a
48	CTCFL	chr5:37723635-37723819	K562	blood:	n/a	n/a
49	MAFK	chr5:37723665-37723850	K562	blood:	n/a	n/a
50	CTCF	chr5:37723600-37723750	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:37723504..37724231-chr5:38192917..38193504,2	MCF-7	breast:
2	chr5:37723298..37724139-chr5:38192927..38193812,2	K562	blood:
3	chr5:37412783..37413436-chr5:37723453..37724202,2	K562	blood:
4	chr5:37413185..37413702-chr5:37723532..37724165,2	MCF-7	breast:

No data

Variant related genes	Relation type
WDR70	TF binding region

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10038414	1.00[EUR][1000 genomes]
rs10039768	1.00[EUR][1000 genomes]
rs10042970	1.00[EUR][1000 genomes]
rs10043213	0.90[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10050392	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10050932	1.00[EUR][1000 genomes]
rs10051811	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10053094	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10055123	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10055301	1.00[EUR][1000 genomes]
rs10055334	1.00[EUR][1000 genomes]
rs10055747	1.00[EUR][1000 genomes]
rs10058062	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10059214	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10060693	1.00[EUR][1000 genomes]
rs10063001	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10067239	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10067869	1.00[EUR][1000 genomes]
rs10071967	1.00[CEU][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10074536	1.00[EUR][1000 genomes]
rs10075851	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10076872	1.00[EUR][1000 genomes]
rs10078503	1.00[EUR][1000 genomes]
rs10473065	0.88[YRI][hapmap];0.90[AMR][1000 genomes]
rs1104717	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1104718	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12332422	1.00[EUR][1000 genomes]
rs12332493	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1400855	1.00[EUR][1000 genomes]
rs16903667	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16903675	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16903689	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16903703	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16903704	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16903711	1.00[CEU][hapmap];0.81[YRI][hapmap]
rs1829294	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1973713	1.00[EUR][1000 genomes]
rs28876205	1.00[EUR][1000 genomes]
rs475517	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs481834	1.00[EUR][1000 genomes]
rs488315	1.00[EUR][1000 genomes]
rs489123	1.00[EUR][1000 genomes]
rs563999	1.00[EUR][1000 genomes]
rs587641	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs59176360	1.00[EUR][1000 genomes]
rs596461	1.00[EUR][1000 genomes]
rs61748201	1.00[EUR][1000 genomes]
rs626649	1.00[EUR][1000 genomes]
rs6451332	1.00[EUR][1000 genomes]
rs671077	1.00[EUR][1000 genomes]
rs6859972	1.00[EUR][1000 genomes]
rs6861640	1.00[CEU][hapmap]
rs6863124	1.00[EUR][1000 genomes]
rs6863547	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6888597	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6898225	1.00[EUR][1000 genomes]
rs6898271	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7708301	1.00[CEU][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7708708	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7710547	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7714066	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7719190	1.00[EUR][1000 genomes]
rs7723389	1.00[EUR][1000 genomes]
rs7725297	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7727291	1.00[EUR][1000 genomes]
rs7727603	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7729195	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7732315	1.00[EUR][1000 genomes]
rs7734593	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7736605	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7736862	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7737210	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7737986	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9292658	1.00[EUR][1000 genomes]
rs9292659	1.00[EUR][1000 genomes]
rs9292660	1.00[EUR][1000 genomes]
rs9292661	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9292663	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs951579	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1030250	chr5:37478163-37734859	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37685200-37743200	Weak transcription	Gastric	stomach
2	chr5:37685600-37727000	Weak transcription	Lung	lung
3	chr5:37689600-37726000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:37697000-37743800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr5:37704400-37735400	Weak transcription	Brain Angular Gyrus	brain
6	chr5:37704600-37726800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:37705400-37724400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:37710200-37735400	Weak transcription	Brain Substantia Nigra	brain
9	chr5:37714400-37725600	Enhancers	NHDF-Ad	bronchial
10	chr5:37715000-37724600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:37716400-37734800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:37717600-37737600	Weak transcription	Small Intestine	intestine
13	chr5:37717800-37724400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:37717800-37735200	Weak transcription	Brain Hippocampus Middle	brain
15	chr5:37717800-37735200	Weak transcription	Fetal Brain Male	brain
16	chr5:37717800-37735400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr5:37717800-37735600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:37717800-37756200	Weak transcription	Right Ventricle	heart
19	chr5:37718200-37727000	Weak transcription	Fetal Brain Female	brain
20	chr5:37718200-37727000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:37718200-37727400	Weak transcription	Brain Germinal Matrix	brain
22	chr5:37718400-37735400	Weak transcription	Brain Anterior Caudate	brain
23	chr5:37718400-37735400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr5:37718400-37743200	Weak transcription	Aorta	Aorta
25	chr5:37718400-37745400	Weak transcription	Pancreas	Pancrea
26	chr5:37718400-37755800	Weak transcription	Spleen	Spleen
27	chr5:37718600-37726800	Weak transcription	Liver	Liver
28	chr5:37718800-37725800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr5:37718800-37735600	Weak transcription	Colon Smooth Muscle	Colon
30	chr5:37718800-37735600	Weak transcription	Fetal Heart	heart
31	chr5:37719000-37727000	Weak transcription	Fetal Lung	lung
32	chr5:37719200-37727000	Weak transcription	Fetal Intestine Large	intestine
33	chr5:37719200-37727000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr5:37719400-37724600	Weak transcription	HepG2	liver
35	chr5:37719400-37743000	Weak transcription	Fetal Intestine Small	intestine
36	chr5:37720000-37726000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:37720400-37725600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:37720600-37723800	Strong transcription	Adipose Nuclei	Adipose
39	chr5:37720600-37725600	Enhancers	NHLF	lung
40	chr5:37720800-37723800	Enhancers	HSMMtube	muscle
41	chr5:37720800-37730000	Strong transcription	Primary T cells from cord blood	blood
42	chr5:37721200-37723800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr5:37721200-37728400	Strong transcription	Left Ventricle	heart
44	chr5:37721200-37730200	Strong transcription	Primary B cells from peripheral blood	blood
45	chr5:37721200-37731800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:37721200-37737400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:37721400-37723800	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr5:37721400-37764200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:37721600-37723800	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr5:37721600-37725200	Strong transcription	Rectal Mucosa Donor 29	rectum

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