Variant report

Variant	rs72929277
Chromosome Location	chr1:70780495-70780496
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:70780480-70780630	SK-N-SH_RA	brain:	n/a	n/a
2	CTCF	chr1:70780480-70780630	HCPEpiC	choroid plexus:	n/a	n/a
3	CTCF	chr1:70780440-70780590	GM06990	blood:	n/a	n/a
4	CTCF	chr1:70780480-70780630	HPAF	blood vessel:	n/a	n/a
5	CTCF	chr1:70780440-70780590	HMF	breast:	n/a	n/a
6	CTCF	chr1:70780440-70780590	HCT-116	colon:	n/a	n/a
7	CTCF	chr1:70780460-70780610	HMEC	breast:	n/a	n/a
8	CTCF	chr1:70780460-70780610	HPAF	blood vessel:	n/a	n/a
9	CTCF	chr1:70780460-70780610	HRPEpiC	eye:	n/a	n/a
10	CTCF	chr1:70780440-70780590	HepG2	liver:	n/a	n/a
11	CTCF	chr1:70780480-70780630	AG10803	skin:	n/a	n/a
12	CTCF	chr1:70780460-70780610	AoAF	blood vessel:	n/a	n/a
13	CTCF	chr1:70780440-70780590	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr1:70780460-70780610	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr1:70780480-70780630	HCFaa	heart:	n/a	n/a
16	CTCF	chr1:70780440-70780590	HBMEC	blood vessel:	n/a	n/a
17	CTCF	chr1:70780440-70780590	HA-sp	spinal cord:	n/a	n/a
18	CTCF	chr1:70780480-70780630	HCT-116	colon:	n/a	n/a
19	CTCF	chr1:70780460-70780610	HEEpiC	esophagus:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70779446..70781152-chr1:70876074..70878497,2	MCF-7	breast:

No data

Variant related genes	Relation type
ANKRD13C	TF binding region
ENSG00000116761	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10889867	0.86[AFR][1000 genomes]
rs56688715	1.00[AMR][1000 genomes]
rs57480626	1.00[AFR][1000 genomes]
rs57627286	1.00[AMR][1000 genomes]
rs57928672	1.00[AMR][1000 genomes]
rs59856193	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61084750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61493071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917819	1.00[AMR][1000 genomes]
rs72917823	1.00[AMR][1000 genomes]
rs72921081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72929203	1.00[AMR][1000 genomes]
rs72929206	1.00[AMR][1000 genomes]
rs72929207	1.00[AMR][1000 genomes]
rs72929211	1.00[AMR][1000 genomes]
rs72929214	1.00[AMR][1000 genomes]
rs72929215	1.00[AMR][1000 genomes]
rs72929225	1.00[AMR][1000 genomes]
rs72929226	1.00[AMR][1000 genomes]
rs72929228	1.00[AMR][1000 genomes]
rs72929237	1.00[AMR][1000 genomes]
rs72929241	1.00[AMR][1000 genomes]
rs72929267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72929270	1.00[AFR][1000 genomes]
rs72929272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72929274	1.00[AFR][1000 genomes]
rs72929275	1.00[AFR][1000 genomes]
rs72929286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72929291	1.00[AFR][1000 genomes]
rs72929299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014292	chr1:70689215-70799065	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv999219	chr1:70730556-71014911	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv1012563	chr1:70753332-70832118	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	esv1792702	chr1:70755511-70818576	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1801665	chr1:70755511-70832053	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv871430	chr1:70765659-70819912	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv830137	chr1:70765921-70958718	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70688000-70819200	Weak transcription	Esophagus	oesophagus
2	chr1:70716800-70815800	Weak transcription	Brain Angular Gyrus	brain
3	chr1:70717800-70788200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:70719200-70783800	Weak transcription	A549	lung
5	chr1:70734000-70786000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:70734400-70786000	Weak transcription	Psoas Muscle	Psoas
7	chr1:70734400-70813000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:70752800-70793400	Weak transcription	Gastric	stomach
9	chr1:70757000-70799800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:70757400-70813200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:70757800-70786000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:70757800-70799400	Weak transcription	Brain Germinal Matrix	brain
13	chr1:70757800-70812400	Weak transcription	Fetal Brain Male	brain
14	chr1:70759400-70785400	Weak transcription	HMEC	breast
15	chr1:70760200-70799800	Weak transcription	Lung	lung
16	chr1:70760400-70802400	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:70760400-70813200	Weak transcription	Fetal Brain Female	brain
18	chr1:70760600-70783600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:70760600-70818200	Weak transcription	Aorta	Aorta
20	chr1:70760600-70818600	Weak transcription	Thymus	Thymus
21	chr1:70761800-70785400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:70762000-70817600	Weak transcription	NHLF	lung
23	chr1:70762200-70818200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:70765400-70799200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr1:70765600-70818200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:70765800-70783800	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:70765800-70788200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:70765800-70799400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:70765800-70812200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:70766200-70780600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:70767400-70789800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:70767600-70783600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:70767600-70784800	Weak transcription	Primary B cells from cord blood	blood
34	chr1:70767600-70785600	Weak transcription	NHDF-Ad	bronchial
35	chr1:70767600-70786600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr1:70767600-70788000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:70767600-70798600	Weak transcription	K562	blood
38	chr1:70767800-70785200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:70767800-70785200	Weak transcription	HUVEC	blood vessel
40	chr1:70767800-70785400	Weak transcription	NH-A	brain
41	chr1:70767800-70785600	Weak transcription	HSMM	muscle
42	chr1:70767800-70786600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:70767800-70789800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr1:70767800-70799200	Weak transcription	Placenta	Placenta
45	chr1:70767800-70819000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:70768000-70785600	Weak transcription	Hela-S3	cervix
47	chr1:70768200-70784000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:70768200-70817000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr1:70768800-70787200	Weak transcription	GM12878-XiMat	blood
50	chr1:70770400-70809200	Weak transcription	Ovary	ovary

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