Variant report

Variant	rs16859967
Chromosome Location	chr2:172945083-172945084
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESR1	chr2:172944948-172945256	ECC-1	luminal epithelium:	n/a	n/a
2	CTCF	chr2:172945000-172945150	HEK293	kidney:	n/a	n/a
3	SUZ12	chr2:172944764-172950829	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr2:172944869-172945257	H1-hESC	embryonic stem cell:	n/a	n/a
5	ESR1	chr2:172944981-172945310	ECC-1	luminal epithelium:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:172945058-172945108	HNPCEpiC	eye:	n/a
2	chr2:172945058-172945108	HCT-116	colon:	n/a
3	chr2:172945058-172945108	H1-hESC	embryonic stem cell:	embryo
4	chr2:172945058-172945108	SK-N-SH	brain:	n/a
5	chr2:172945058-172945108	GM06990	blood:	n/a
6	chr2:172945058-172945108	ovcar-3	ovarian:	n/a
7	chr2:172945058-172945108	HepG2	liver:	n/a
8	chr2:172945058-172945108	HPAEpiC	pulmonary alveolar:	n/a
9	chr2:172945058-172945108	PANC-1	pancreas:	n/a
10	chr2:172945058-172945108	MCF-7	breast:	n/a
11	chr2:172945058-172945108	HRCEpiC	kidney:	n/a
12	chr2:172945058-172945108	NT2-D1	testis:	n/a
13	chr2:172945058-172945108	SAEC	small airway:	n/a
14	chr2:172945058-172945108	HCPEpiC	choroid plexus:	n/a
15	chr2:172945058-172945108	SK-N-MC	brain:	n/a
16	chr2:172945058-172945108	HL-60	blood:	n/a
17	chr2:172945058-172945108	AoSMC	blood vessel:	n/a
18	chr2:172945058-172945108	LNCaP	prostate:	n/a
19	chr2:172945058-172945108	ECC-1	luminal epithelium:	n/a
20	chr2:172945058-172945108	RPTEC	kidney:	n/a
21	chr2:172945058-172945108	AG09309	skin:	n/a
22	chr2:172945058-172945108	A549	lung:	n/a
23	chr2:172945058-172945108	K562	blood:	n/a
24	chr2:172945058-172945108	GM12891	blood:	n/a
25	chr2:172945058-172945108	HEK293	kidney:	embryo
26	chr2:172945058-172945108	PFSK-1	brain:	n/a
27	chr2:172945058-172945108	Jurkat	blood:	n/a
28	chr2:172945058-172945108	NH-A	brain:	n/a
29	chr2:172945058-172945108	ProgFib	skin:	n/a
30	chr2:172945058-172945108	GM12878	blood:	n/a
31	chr2:172945058-172945108	HCF	heart:	n/a
32	chr2:172945058-172945108	T-47D	breast:	n/a
33	chr2:172945058-172945108	HEEpiC	esophagus:	n/a
34	chr2:172945058-172945108	NHBE	bronchial:	n/a
35	chr2:172945058-172945108	BJ	skin:	n/a
36	chr2:172945058-172945108	HRE	kidney:	n/a
37	chr2:172945058-172945108	CMK	blood:	n/a
38	chr2:172945058-172945108	HRPEpiC	eye:	n/a
39	chr2:172945058-172945108	GM19239	blood:	n/a
40	chr2:172945058-172945108	SK-N-SH_RA	brain:	n/a
41	chr2:172945058-172945108	IMR90	lung:	fetal
42	chr2:172945058-172945108	Caco-2	colon:	n/a
43	chr2:172945058-172945108	HMEC	breast:	n/a
44	chr2:172945058-172945108	BE2_C	brain:	n/a
45	chr2:172945058-172945108	GM12892	blood:	n/a
46	chr2:172945058-172945108	NHDF-neo	bronchial:	n/a
47	chr2:172945058-172945108	SKMC	muscle:	n/a
48	chr2:172945058-172945108	Hepatocyte	liver:	n/a
49	chr2:172945058-172945108	AG10803	skin:	n/a
50	chr2:172945058-172945108	HAEpiC	amniotic membrane:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:172940631..172943115-chr2:172943509..172946716,3	MCF-7	breast:
2	chr2:172859788..172868192-chr2:172944876..172951443,18	MCF-7	breast:
3	chr2:172925324..172928251-chr2:172942699..172945765,3	K562	blood:

No data

Variant related genes	Relation type
DLX1	TF binding region
DLX1	CpG island
ENSG00000115840	Chromatin interaction
ENSG00000172878	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7570796	0.82[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172911200-172947200	Weak transcription	HSMM	muscle
2	chr2:172942000-172947000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:172944000-172949200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:172944400-172945200	Active TSS	Brain Germinal Matrix	brain
5	chr2:172944600-172945800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
6	chr2:172944600-172947000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr2:172944600-172949400	Bivalent/Poised TSS	Fetal Brain Female	brain
8	chr2:172944800-172945200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
9	chr2:172944800-172945200	Bivalent/Poised TSS	Primary B cells from cord blood	blood
10	chr2:172944800-172945200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
11	chr2:172944800-172945200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:172944800-172945200	Strong transcription	Ovary	ovary
13	chr2:172944800-172945400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr2:172944800-172945400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
15	chr2:172944800-172945400	Bivalent Enhancer	NH-A	brain
16	chr2:172944800-172945600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
17	chr2:172944800-172945600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
18	chr2:172944800-172946400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:172945000-172945200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
20	chr2:172945000-172945200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:172945000-172945200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:172945000-172945200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:172945000-172945200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:172945000-172945200	Bivalent Enhancer	Fetal Stomach	stomach
25	chr2:172945000-172945400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:172945000-172945600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
27	chr2:172945000-172945600	Enhancers	HepG2	liver
28	chr2:172945000-172945800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
29	chr2:172945000-172946000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr2:172945000-172946200	Bivalent Enhancer	Fetal Intestine Small	intestine
31	chr2:172945000-172946400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:172945000-172946400	Bivalent Enhancer	Placenta	Placenta
33	chr2:172945000-172946600	ZNF genes & repeats	Lung	lung
34	chr2:172945000-172948200	ZNF genes & repeats	Spleen	Spleen
35	chr2:172945000-172948600	Weak transcription	K562	blood
36	chr2:172945000-172949400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr2:172945000-172949400	Bivalent Enhancer	Fetal Thymus	thymus
38	chr2:172945000-172949600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:172945000-172951400	Enhancers	Pancreas	Pancrea

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