Variant report

Variant	rs72913126
Chromosome Location	chr3:47537515-47537516
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:47537341-47538012	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:47537514-47537564	RPTEC	kidney:	n/a
2	chr3:47537514-47537564	SKMC	muscle:	n/a
3	chr3:47537514-47537564	Hela-S3	cervix:	n/a
4	chr3:47537514-47537564	AoSMC	blood vessel:	n/a
5	chr3:47537514-47537564	AG10803	skin:	n/a
6	chr3:47537514-47537564	NH-A	brain:	n/a
7	chr3:47537514-47537564	PANC-1	pancreas:	n/a
8	chr3:47537514-47537564	Jurkat	blood:	n/a
9	chr3:47537514-47537564	SK-N-SH_RA	brain:	n/a
10	chr3:47537514-47537564	GM12891	blood:	n/a
11	chr3:47537514-47537564	SK-N-SH	brain:	n/a
12	chr3:47537514-47537564	SAEC	small airway:	n/a
13	chr3:47537514-47537564	ProgFib	skin:	n/a
14	chr3:47537514-47537564	NHBE	bronchial:	n/a
15	chr3:47537514-47537564	HUVEC	blood vessel:	n/a
16	chr3:47537514-47537564	GM12892	blood:	n/a
17	chr3:47537514-47537564	GM06990	blood:	n/a
18	chr3:47537514-47537564	HCPEpiC	choroid plexus:	n/a
19	chr3:47537514-47537564	NB4	blood:	n/a
20	chr3:47537514-47537564	A549	lung:	n/a
21	chr3:47537514-47537564	LNCaP	prostate:	n/a
22	chr3:47537514-47537564	IMR90	lung:	fetal
23	chr3:47537514-47537564	AG04450	lung:	fetal
24	chr3:47537514-47537564	HEEpiC	esophagus:	n/a
25	chr3:47537514-47537564	HCT-116	colon:	n/a
26	chr3:47537514-47537564	HEK293	kidney:	embryo
27	chr3:47537514-47537564	PFSK-1	brain:	n/a
28	chr3:47537514-47537564	ECC-1	luminal epithelium:	n/a
29	chr3:47537514-47537564	CMK	blood:	n/a
30	chr3:47537514-47537564	AG09319	gingival:	n/a
31	chr3:47537514-47537564	K562	blood:	n/a
32	chr3:47537514-47537564	Caco-2	colon:	n/a
33	chr3:47537514-47537564	MCF-7	breast:	n/a
34	chr3:47537514-47537564	HL-60	blood:	n/a
35	chr3:47537514-47537564	HPAEpiC	pulmonary alveolar:	n/a
36	chr3:47537514-47537564	HRCEpiC	kidney:	n/a
37	chr3:47537514-47537564	MCF10A-Er-Src	breast:	n/a
38	chr3:47537514-47537564	NHDF-neo	bronchial:	n/a
39	chr3:47537514-47537564	T-47D	breast:	n/a
40	chr3:47537514-47537564	U87	brain:	n/a
41	chr3:47537514-47537564	AG09309	skin:	n/a
42	chr3:47537514-47537564	HCF	heart:	n/a
43	chr3:47537514-47537564	GM12878	blood:	n/a
44	chr3:47537514-47537564	ovcar-3	ovarian:	n/a
45	chr3:47537514-47537564	GM19239	blood:	n/a
46	chr3:47537514-47537564	HAEpiC	amniotic membrane:	n/a
47	chr3:47537514-47537564	PrEC	prostate:	n/a
48	chr3:47537514-47537564	HepG2	liver:	n/a
49	chr3:47537514-47537564	HMEC	breast:	n/a
50	chr3:47537514-47537564	SK-N-MC	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr3:47537303..47539448-chr3:47551791..47554837,3	K562	blood:
2	chr3:47534553..47536287-chr3:47537142..47539341,2	K562	blood:
3	chr3:47531710..47533758-chr3:47535472..47538137,2	K562	blood:
4	chr3:47537303..47543925-chr3:47549598..47557776,11	K562	blood:
5	chr3:47520594..47523805-chr3:47534550..47538420,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271161	TF binding region
ENSG00000271161	CpG island
ENSG00000163832	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17079693	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs6807733	0.80[AMR][1000 genomes]
rs6810322	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs72916824	0.90[AMR][1000 genomes]
rs72916838	0.80[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	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47517800-47544400	Weak transcription	Small Intestine	intestine
2	chr3:47518200-47541600	Weak transcription	Fetal Kidney	kidney
3	chr3:47518400-47539400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr3:47528000-47538200	Weak transcription	Hela-S3	cervix
5	chr3:47529000-47538400	Weak transcription	HSMM	muscle
6	chr3:47529200-47539800	Weak transcription	NH-A	brain
7	chr3:47529800-47539600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr3:47532000-47546400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:47532600-47539600	Weak transcription	NHDF-Ad	bronchial
10	chr3:47532600-47542200	Weak transcription	Fetal Brain Male	brain
11	chr3:47533600-47542200	Weak transcription	HUVEC	blood vessel
12	chr3:47534200-47547000	Strong transcription	Dnd41	blood
13	chr3:47534400-47543000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:47534400-47546000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:47534400-47546200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr3:47534600-47546000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:47534600-47553000	Strong transcription	Fetal Thymus	thymus
18	chr3:47534800-47549400	Weak transcription	Fetal Heart	heart
19	chr3:47534800-47552400	Strong transcription	Fetal Intestine Small	intestine
20	chr3:47534800-47553200	Strong transcription	Fetal Stomach	stomach
21	chr3:47535000-47538400	Weak transcription	HMEC	breast
22	chr3:47535200-47539400	Weak transcription	Psoas Muscle	Psoas
23	chr3:47535200-47543000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:47535200-47546200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr3:47535200-47546200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr3:47535200-47546200	Strong transcription	Thymus	Thymus
27	chr3:47535200-47547000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:47535200-47553000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr3:47535400-47539600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr3:47535400-47546400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr3:47535400-47546400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr3:47535400-47546400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:47535600-47546600	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr3:47535600-47547000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr3:47535600-47552800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr3:47535800-47546600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:47536000-47541600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr3:47536200-47544000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:47536200-47546400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr3:47536200-47553200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:47536400-47546000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:47536400-47546000	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr3:47536400-47546200	Strong transcription	Liver	Liver
44	chr3:47536400-47546400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr3:47536400-47546400	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr3:47536400-47546800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:47536400-47547000	Strong transcription	HepG2	liver
48	chr3:47536600-47537600	Strong transcription	Brain Substantia Nigra	brain
49	chr3:47536600-47537600	Strong transcription	A549	lung
50	chr3:47536600-47537800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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