Variant report

Variant	rs73019479
Chromosome Location	chr2:171627219-171627220
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:176)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:176 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP4	chr2:171626965-171627382	H1-hESC	embryonic stem cell:	n/a	chr2:171627151-171627167 chr2:171627153-171627169
2	MYC	chr2:171626646-171627309	MCF10A-Er-Src	breast:	n/a	n/a
3	ELF1	chr2:171627050-171627336	HepG2	liver:	n/a	n/a
4	CHD2	chr2:171626697-171627305	GM12878	blood:	n/a	chr2:171627153-171627163
5	POLR2A	chr2:171626666-171627776	Raji	blood:	n/a	n/a
6	POLR2A	chr2:171626705-171628150	HCT-116	colon:	n/a	n/a
7	POLR2A	chr2:171626992-171628079	HCT-116	colon:	n/a	n/a
8	E2F6	chr2:171626907-171628103	K562	blood:	n/a	chr2:171627722-171627733 chr2:171627155-171627164
9	SIN3A	chr2:171626617-171628262	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr2:171626556-171628445	K562	blood:	n/a	n/a
11	TEAD4	chr2:171626671-171627318	K562	blood:	n/a	n/a
12	TEAD4	chr2:171626530-171628255	K562	blood:	n/a	n/a
13	POLR2A	chr2:171626626-171627431	U87	brain:	n/a	n/a
14	ZKSCAN1	chr2:171627158-171627285	Hela-S3	cervix:	n/a	n/a
15	MAX	chr2:171626743-171627457	A549	lung:	n/a	n/a
16	TAF1	chr2:171626812-171627339	K562	blood:	n/a	n/a
17	RCOR1	chr2:171626577-171628333	K562	blood:	n/a	n/a
18	PML	chr2:171626656-171627296	K562	blood:	n/a	n/a
19	USF2	chr2:171627111-171627288	GM12878	blood:	n/a	n/a
20	POLR2A	chr2:171626550-171627329	K562	blood:	n/a	n/a
21	EGR1	chr2:171627019-171628019	K562	blood:	n/a	chr2:171627156-171627169
22	POLR2A	chr2:171626809-171627489	H1-hESC	embryonic stem cell:	n/a	n/a
23	EBF1	chr2:171627071-171627246	GM12878	blood:	n/a	n/a
24	FOXA2	chr2:171627094-171627301	HepG2	liver:	n/a	n/a
25	JUND	chr2:171626621-171628390	K562	blood:	n/a	chr2:171626874-171626883
26	TAF1	chr2:171626733-171627260	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr2:171626457-171628144	ECC-1	luminal epithelium:	n/a	n/a
28	BHLHE40	chr2:171627131-171627314	GM12878	blood:	n/a	n/a
29	NRF1	chr2:171627054-171627437	K562	blood:	n/a	chr2:171627155-171627164 chr2:171627248-171627259
30	MAX	chr2:171626729-171628211	HepG2	liver:	n/a	n/a
31	MYBL2	chr2:171626727-171627280	HepG2	liver:	n/a	n/a
32	POLR2A	chr2:171627100-171627311	HepG2	liver:	n/a	n/a
33	NR2F2	chr2:171626219-171627371	K562	blood:	n/a	n/a
34	IRF1	chr2:171626652-171627447	K562	blood:	n/a	chr2:171627151-171627165
35	ZMIZ1	chr2:171626644-171627301	K562	blood:	n/a	n/a
36	POLR2A	chr2:171626774-171627283	H1-hESC	embryonic stem cell:	n/a	n/a
37	ZNF143	chr2:171626781-171627831	GM12878	blood:	n/a	n/a
38	POLR2A	chr2:171626815-171627309	HepG2	liver:	n/a	n/a
39	MAX	chr2:171627121-171627828	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr2:171626594-171628138	K562	blood:	n/a	n/a
41	CHD2	chr2:171626876-171627308	H1-hESC	embryonic stem cell:	n/a	chr2:171627153-171627163
42	MAX	chr2:171626988-171627342	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr2:171626734-171627889	MCF-7	breast:	n/a	n/a
44	ELF1	chr2:171627047-171627462	K562	blood:	n/a	n/a
45	TAF1	chr2:171626685-171627322	K562	blood:	n/a	n/a
46	POLR2A	chr2:171627057-171627306	HepG2	liver:	n/a	n/a
47	POLR2A	chr2:171626929-171627318	GM12878	blood:	n/a	n/a
48	POLR2A	chr2:171626471-171627811	MCF10A-Er-Src	breast:	n/a	n/a
49	MAZ	chr2:171626687-171627955	GM12878	blood:	n/a	n/a
50	HEY1	chr2:171626675-171627346	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:171626807..171627736-chr2:171785217..171786089,2	K562	blood:
2	chr2:171551254..171553875-chr2:171627216..171628911,2	MCF-7	breast:
3	chr14:92506019..92506993-chr2:171626597..171627356,2	Hela-S3	cervix:
4	chr2:171627023..171629009-chr2:171784250..171786840,2	K562	blood:
5	chr2:171571171..171574868-chr2:171624858..171628652,5	K562	blood:
6	chr2:171568787..171573894-chr2:171626202..171629385,10	K562	blood:
7	chr2:171626961..171629009-chr2:171784250..171787377,4	K562	blood:
8	chr19:13049038..13049683-chr2:171626534..171627412,2	NB4	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC007405.2.1-1	chr2:171627212-171627276	ENSG00000234350
2	lnc-AC007405.7.1-1	chr2:171627184-171627239	NONHSAT075421
3	lnc-AC007405.2.1-1	chr2:171627212-171627276	NR_110185

No data

Variant related genes	Relation type
ENSG00000239467	TF binding region
ENSG00000213981	Chromatin interaction
ENSG00000115806	Chromatin interaction
ENSG00000204335	Chromatin interaction
ENSG00000222033	Chromatin interaction
ENSG00000179218	Chromatin interaction
ENSG00000100815	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57214245	1.00[AMR][1000 genomes]
rs6722929	1.00[AMR][1000 genomes]
rs73015352	1.00[AMR][1000 genomes]
rs73017330	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73019473	1.00[AMR][1000 genomes]
rs73019490	1.00[AMR][1000 genomes]
rs73021408	1.00[AMR][1000 genomes]

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	esv3329790	chr2:171626331-171628879	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171626200-171627800	Active TSS	GM12878-XiMat	blood
2	chr2:171626200-171628000	Active TSS	Colon Smooth Muscle	Colon
3	chr2:171626400-171628000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:171626400-171628200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:171626400-171628200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:171626400-171628200	Active TSS	HMEC	breast
7	chr2:171626400-171628400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr2:171626400-171628400	Active TSS	Brain Anterior Caudate	brain
9	chr2:171626400-171628400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr2:171626600-171627400	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr2:171626600-171627400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:171626600-171627600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:171626600-171627600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:171626600-171627600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:171626600-171627600	Active TSS	Colonic Mucosa	Colon
16	chr2:171626600-171627600	Active TSS	Left Ventricle	heart
17	chr2:171626600-171627800	Active TSS	Brain Substantia Nigra	brain
18	chr2:171626600-171628000	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr2:171626600-171628000	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr2:171626600-171628000	Active TSS	Brain Angular Gyrus	brain
21	chr2:171626600-171628000	Active TSS	Pancreas	Pancrea
22	chr2:171626600-171628000	Active TSS	Stomach Smooth Muscle	stomach
23	chr2:171626600-171628000	Active TSS	NHLF	lung
24	chr2:171626600-171628200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:171626600-171628200	Active TSS	Right Ventricle	heart
26	chr2:171626600-171628200	Bivalent/Poised TSS	Thymus	Thymus
27	chr2:171626600-171628200	Bivalent/Poised TSS	HSMM	muscle
28	chr2:171626600-171628200	Active TSS	HSMMtube	muscle
29	chr2:171626600-171628400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:171626600-171628400	Active TSS	Brain Hippocampus Middle	brain
31	chr2:171626600-171628400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:171626600-171628600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:171626600-171628600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:171626600-171628800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr2:171626600-171628800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:171626800-171627400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
37	chr2:171626800-171627400	Active TSS	Right Atrium	heart
38	chr2:171626800-171627600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:171626800-171627600	Active TSS	Esophagus	oesophagus
40	chr2:171626800-171627600	Enhancers	Spleen	Spleen
41	chr2:171626800-171627600	Active TSS	NH-A	brain
42	chr2:171626800-171627800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:171626800-171627800	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr2:171626800-171627800	Active TSS	Fetal Heart	heart
45	chr2:171626800-171627800	Active TSS	Fetal Kidney	kidney
46	chr2:171626800-171627800	Active TSS	NHDF-Ad	bronchial
47	chr2:171626800-171628000	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr2:171626800-171628000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:171626800-171628000	Active TSS	Fetal Intestine Large	intestine
50	chr2:171626800-171628000	Active TSS	Gastric	stomach

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