Variant report

Variant	rs73398286
Chromosome Location	chr15:49715389-49715390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:49715214-49716523	IMR90	lung:	n/a	n/a
2	RAD21	chr15:49715113-49715532	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr15:49715164-49715443	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr15:49715291-49715390	GM10248	blood:	n/a	n/a
5	CTCF	chr15:49715260-49715410	HPF	lung:	n/a	n/a
6	RAD21	chr15:49715202-49715482	SK-N-SH_RA	brain:	n/a	n/a
7	CTCF	chr15:49715240-49715390	AG04449	skin:	n/a	n/a
8	RAD21	chr15:49714836-49715800	IMR90	lung:	n/a	n/a
9	CTCF	chr15:49715260-49715410	HFF-Myc	foreskin:	n/a	n/a
10	CTCF	chr15:49715260-49715410	AoAF	blood vessel:	n/a	n/a
11	CTCF	chr15:49715260-49715410	HRPEpiC	eye:	n/a	n/a
12	CTCF	chr15:49715300-49715450	HMF	breast:	n/a	n/a
13	CTCF	chr15:49715240-49715390	AG04450	lung:	n/a	n/a
14	CTCF	chr15:49715260-49715410	AG09309	skin:	n/a	n/a
15	CTCF	chr15:49715240-49715390	HA-sp	spinal cord:	n/a	n/a
16	RAD21	chr15:49715158-49715490	HepG2	liver:	n/a	n/a
17	CTCF	chr15:49715240-49715390	AG09319	gingival:	n/a	n/a
18	RAD21	chr15:49714964-49716344	SK-N-SH	brain:	n/a	n/a
19	CTCF	chr15:49715360-49715510	HCM	heart:	n/a	n/a
20	CTCF	chr15:49715300-49715450	NHDF-neo	bronchial:	n/a	n/a
21	RAD21	chr15:49715128-49715485	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr15:49715240-49715390	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr15:49715260-49715410	NHLF	lung:	n/a	n/a
24	CTCF	chr15:49715112-49715538	IMR90	lung:	n/a	n/a
25	POLR2A	chr15:49715343-49715589	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr15:49715240-49715390	HFF	foreskin:	n/a	n/a
27	CTCF	chr15:49715260-49715410	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr15:49715260-49715410	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr15:49715156-49715453	GM12878	blood:	n/a	n/a
30	POLR2A	chr15:49715170-49716912	ProgFib	skin:	n/a	n/a
31	TBP	chr15:49715208-49715662	Hela-S3	cervix:	n/a	n/a
32	RAD21	chr15:49715188-49715434	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr15:49715240-49715390	AG10803	skin:	n/a	n/a
34	RAD21	chr15:49715150-49715418	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr15:49715260-49715410	AG10803	skin:	n/a	n/a
36	CTCF	chr15:49715133-49715402	K562	blood:	n/a	n/a
37	CTCF	chr15:49715280-49715430	HRPEpiC	eye:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:49715342-49715392	T-47D	breast:	n/a
2	chr15:49715342-49715392	HepG2	liver:	n/a
3	chr15:49715342-49715392	MCF10A-Er-Src	breast:	n/a
4	chr15:49715342-49715392	NHBE	bronchial:	n/a
5	chr15:49715342-49715392	GM12892	blood:	n/a
6	chr15:49715342-49715392	ovcar-3	ovarian:	n/a
7	chr15:49715342-49715392	GM06990	blood:	n/a
8	chr15:49715342-49715392	HL-60	blood:	n/a
9	chr15:49715342-49715392	AG09319	gingival:	n/a
10	chr15:49715342-49715392	HAEpiC	amniotic membrane:	n/a
11	chr15:49715342-49715392	HCF	heart:	n/a
12	chr15:49715342-49715392	ProgFib	skin:	n/a
13	chr15:49715342-49715392	NT2-D1	testis:	n/a
14	chr15:49715342-49715392	HMEC	breast:	n/a
15	chr15:49715342-49715392	HEK293	kidney:	embryo
16	chr15:49715342-49715392	A549	lung:	n/a
17	chr15:49715342-49715392	SAEC	small airway:	n/a
18	chr15:49715342-49715392	GM12878	blood:	n/a
19	chr15:49715342-49715392	Hepatocyte	liver:	n/a
20	chr15:49715342-49715392	Jurkat	blood:	n/a
21	chr15:49715342-49715392	K562	blood:	n/a
22	chr15:49715342-49715392	SK-N-SH_RA	brain:	n/a
23	chr15:49715342-49715392	RPTEC	kidney:	n/a
24	chr15:49715342-49715392	HCM	heart:	n/a
25	chr15:49715342-49715392	SK-N-MC	brain:	n/a
26	chr15:49715342-49715392	HNPCEpiC	eye:	n/a
27	chr15:49715342-49715392	HIPEpiC	eye:	n/a
28	chr15:49715342-49715392	HPAEpiC	pulmonary alveolar:	n/a
29	chr15:49715342-49715392	MCF-7	breast:	n/a
30	chr15:49715342-49715392	HRPEpiC	eye:	n/a
31	chr15:49715342-49715392	AG04449	skin:	fetal
32	chr15:49715342-49715392	AG10803	skin:	n/a
33	chr15:49715342-49715392	PANC-1	pancreas:	n/a
34	chr15:49715342-49715392	SK-N-SH	brain:	n/a
35	chr15:49715342-49715392	SKMC	muscle:	n/a
36	chr15:49715342-49715392	HUVEC	blood vessel:	n/a
37	chr15:49715342-49715392	NH-A	brain:	n/a
38	chr15:49715342-49715392	AoSMC	blood vessel:	n/a
39	chr15:49715342-49715392	ECC-1	luminal epithelium:	n/a
40	chr15:49715342-49715392	IMR90	lung:	fetal
41	chr15:49715342-49715392	BJ	skin:	n/a
42	chr15:49715342-49715392	HCT-116	colon:	n/a
43	chr15:49715342-49715392	HCPEpiC	choroid plexus:	n/a
44	chr15:49715342-49715392	Caco-2	colon:	n/a
45	chr15:49715342-49715392	HEEpiC	esophagus:	n/a
46	chr15:49715342-49715392	BE2_C	brain:	n/a
47	chr15:49715342-49715392	GM12891	blood:	n/a
48	chr15:49715342-49715392	NB4	blood:	n/a
49	chr15:49715342-49715392	U87	brain:	n/a
50	chr15:49715342-49715392	Hela-S3	cervix:	n/a

No data

Variant related genes	Relation type
FGF7	TF binding region
FGF7	CpG island

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs59458829	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390399	0.90[AFR][1000 genomes]
rs73392269	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398239	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398257	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400235	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039368	chr15:49566094-49764066	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833002	chr15:49621400-49781799	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49714000-49715400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr15:49714000-49715600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr15:49714000-49715800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr15:49714000-49715800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr15:49714000-49720400	Active TSS	Ovary	ovary
6	chr15:49714000-49720800	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr15:49714000-49721000	Active TSS	Colon Smooth Muscle	Colon
8	chr15:49714000-49722600	Active TSS	Stomach Smooth Muscle	stomach
9	chr15:49714200-49716400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:49714200-49716800	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr15:49714200-49718600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:49714200-49719400	Active TSS	Fetal Kidney	kidney
13	chr15:49714200-49721000	Active TSS	Rectal Smooth Muscle	rectum
14	chr15:49714200-49721000	Active TSS	Right Atrium	heart
15	chr15:49714200-49721400	Active TSS	Adipose Nuclei	Adipose
16	chr15:49714400-49715600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr15:49714400-49715600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:49714400-49716600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr15:49714600-49715400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr15:49714600-49715400	Weak transcription	Brain Hippocampus Middle	brain
21	chr15:49714600-49715400	Weak transcription	Fetal Brain Male	brain
22	chr15:49714600-49715400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr15:49714600-49715800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr15:49714800-49716000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr15:49714800-49716400	Weak transcription	Brain Substantia Nigra	brain
26	chr15:49714800-49720600	Active TSS	NHDF-Ad	bronchial
27	chr15:49715000-49715400	Weak transcription	NHLF	lung
28	chr15:49715000-49715600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr15:49715000-49716200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:49715200-49715400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr15:49715200-49715400	Enhancers	Fetal Intestine Small	intestine
32	chr15:49715200-49715600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr15:49715200-49715600	Flanking Active TSS	Fetal Heart	heart
34	chr15:49715200-49715800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr15:49715200-49715800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:49715200-49716000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr15:49715200-49716000	Flanking Active TSS	Fetal Lung	lung
38	chr15:49715200-49716800	Active TSS	Psoas Muscle	Psoas
39	chr15:49715200-49717600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:49715200-49718000	Active TSS	Fetal Muscle Trunk	muscle
41	chr15:49715200-49718000	Active TSS	HSMMtube	muscle
42	chr15:49715200-49719200	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr15:49715200-49719400	Active TSS	Fetal Muscle Leg	muscle
44	chr15:49715200-49719400	Active TSS	Right Ventricle	heart
45	chr15:49715200-49719600	Active TSS	Osteobl	bone
46	chr15:49715200-49720000	Active TSS	Fetal Stomach	stomach

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