Variant report

Variant	rs72706088
Chromosome Location	chr1:169457862-169457863
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
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	CEBPB	chr1:169457858-169458197	A549	lung:	n/a	n/a
2	POLR2A	chr1:169457852-169457877	MCF10A-Er-Src	breast:	n/a	n/a
3	CTCF	chr1:169457820-169457970	HPAF	blood vessel:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:169457855-169457905	HL-60	blood:	n/a
2	chr1:169457855-169457905	AG04449	skin:	fetal
3	chr1:169457855-169457905	SK-N-SH	brain:	n/a
4	chr1:169457855-169457905	NT2-D1	testis:	n/a
5	chr1:169457855-169457905	Caco-2	colon:	n/a
6	chr1:169457855-169457905	HNPCEpiC	eye:	n/a
7	chr1:169457855-169457905	Hepatocyte	liver:	n/a
8	chr1:169457855-169457905	MCF-7	breast:	n/a
9	chr1:169457855-169457905	AoSMC	blood vessel:	n/a
10	chr1:169457855-169457905	ovcar-3	ovarian:	n/a
11	chr1:169457855-169457905	SKMC	muscle:	n/a
12	chr1:169457855-169457905	NH-A	brain:	n/a
13	chr1:169457855-169457905	SAEC	small airway:	n/a
14	chr1:169457855-169457905	SK-N-MC	brain:	n/a
15	chr1:169457855-169457905	BJ	skin:	n/a
16	chr1:169457855-169457905	GM12891	blood:	n/a
17	chr1:169457855-169457905	ProgFib	skin:	n/a
18	chr1:169457855-169457905	AG09309	skin:	n/a
19	chr1:169457855-169457905	HRPEpiC	eye:	n/a
20	chr1:169457855-169457905	AG10803	skin:	n/a
21	chr1:169457855-169457905	U87	brain:	n/a
22	chr1:169457855-169457905	IMR90	lung:	fetal
23	chr1:169457855-169457905	HEEpiC	esophagus:	n/a
24	chr1:169457855-169457905	LNCaP	prostate:	n/a
25	chr1:169457855-169457905	PrEC	prostate:	n/a
26	chr1:169457855-169457905	H1-hESC	embryonic stem cell:	embryo
27	chr1:169457855-169457905	HUVEC	blood vessel:	n/a
28	chr1:169457855-169457905	RPTEC	kidney:	n/a
29	chr1:169457855-169457905	GM12892	blood:	n/a
30	chr1:169457855-169457905	HPAEpiC	pulmonary alveolar:	n/a
31	chr1:169457855-169457905	NHBE	bronchial:	n/a
32	chr1:169457855-169457905	NHDF-neo	bronchial:	n/a
33	chr1:169457855-169457905	Hela-S3	cervix:	n/a
34	chr1:169457855-169457905	HepG2	liver:	n/a
35	chr1:169457855-169457905	GM12878	blood:	n/a
36	chr1:169457855-169457905	HAEpiC	amniotic membrane:	n/a
37	chr1:169457855-169457905	ECC-1	luminal epithelium:	n/a
38	chr1:169457855-169457905	AG09319	gingival:	n/a
39	chr1:169457855-169457905	HIPEpiC	eye:	n/a
40	chr1:169457855-169457905	BE2_C	brain:	n/a
41	chr1:169457855-169457905	GM06990	blood:	n/a
42	chr1:169457855-169457905	SK-N-SH_RA	brain:	n/a
43	chr1:169457855-169457905	HEK293	kidney:	embryo
44	chr1:169457855-169457905	NB4	blood:	n/a
45	chr1:169457855-169457905	HCT-116	colon:	n/a
46	chr1:169457855-169457905	A549	lung:	n/a
47	chr1:169457855-169457905	K562	blood:	n/a
48	chr1:169457855-169457905	MCF10A-Er-Src	breast:	n/a
49	chr1:169457855-169457905	GM19239	blood:	n/a
50	chr1:169457855-169457905	HRE	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169449894..169459462-chr1:169475885..169501963,75	MCF-7	breast:
2	chr1:169456428..169460568-chr1:169464667..169468195,6	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BLZF1-2	chr1:169455353-169458414	NONHSAT007465

No data

Variant related genes	Relation type
SLC19A2	TF binding region
SLC19A2	CpG island
ENSG00000198734	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10919177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12022575	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12024849	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12563507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1894703	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2008784	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2285212	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35337011	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv831871	chr1:169320673-169486680	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1001454	chr1:169387381-169465274	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169454400-169458400	Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr1:169455800-169461400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:169456000-169460400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:169456200-169464000	Weak transcription	Esophagus	oesophagus
5	chr1:169456400-169458000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:169456400-169461000	Weak transcription	Fetal Lung	lung
7	chr1:169456600-169461000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:169456600-169461000	Weak transcription	NHDF-Ad	bronchial
9	chr1:169456600-169462200	Weak transcription	Placenta	Placenta
10	chr1:169456600-169464200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:169456600-169464200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:169456600-169464200	Weak transcription	HMEC	breast
13	chr1:169456800-169458400	Enhancers	Fetal Heart	heart
14	chr1:169456800-169460800	Weak transcription	Osteobl	bone
15	chr1:169456800-169461200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:169457000-169458800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:169457000-169459000	Enhancers	HepG2	liver
18	chr1:169457000-169460400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:169457000-169460400	Weak transcription	GM12878-XiMat	blood
20	chr1:169457000-169461000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:169457000-169463800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:169457000-169464400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr1:169457200-169458000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:169457200-169458000	Flanking Active TSS	Psoas Muscle	Psoas
25	chr1:169457200-169458600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:169457400-169458200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:169457400-169461000	Weak transcription	HSMMtube	muscle
28	chr1:169457600-169458400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr1:169457600-169458800	Enhancers	Liver	Liver
30	chr1:169457600-169460800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:169457600-169460800	Weak transcription	HSMM	muscle
32	chr1:169457800-169458000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:169457800-169458000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:169457800-169458200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr1:169457800-169459000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:169457800-169461400	Weak transcription	Left Ventricle	heart
37	chr1:169457800-169464400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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