Variant report

Variant	rs72819651
Chromosome Location	chr17:38639842-38639843
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr17:38639639-38640150	A549	lung:	n/a	n/a
2	POLR2A	chr17:38637848-38650725	A549	lung:	n/a	n/a
3	POLR2A	chr17:38639722-38641776	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr17:38639013-38641604	Hela-S3	cervix:	n/a	n/a
5	BCL3	chr17:38639720-38643973	A549	lung:	n/a	n/a
6	POLR2A	chr17:38639795-38639961	A549	lung:	n/a	n/a
7	POLR2A	chr17:38639772-38639919	A549	lung:	n/a	n/a
8	POLR2A	chr17:38639721-38640044	A549	lung:	n/a	n/a
9	POLR2A	chr17:38639824-38641744	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr17:38638883-38645646	MCF10A-Er-Src	breast:	n/a	n/a
11	BCL3	chr17:38639648-38644407	A549	lung:	n/a	n/a
12	POLR2A	chr17:38639761-38639928	A549	lung:	n/a	n/a
13	POLR2A	chr17:38638947-38641454	Hela-S3	cervix:	n/a	n/a
14	NR3C1	chr17:38639717-38640120	A549	lung:	n/a	n/a
15	POLR2A	chr17:38638060-38645729	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38639003..38641951-chr17:38683883..38685651,2	MCF-7	breast:
2	chr17:38633817..38637978-chr17:38639202..38643004,3	K562	blood:
3	chr17:38638255..38640177-chr17:38640329..38642532,3	K562	blood:
4	chr17:38639539..38641673-chr17:38677366..38679503,2	K562	blood:

No data

Variant related genes	Relation type
TNS4	TF binding region
ENSG00000131746	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10153265	0.81[EUR][1000 genomes]
rs10305288	1.00[AFR][1000 genomes]
rs10305296	1.00[AFR][1000 genomes]
rs10305303	1.00[AFR][1000 genomes]
rs15685	1.00[AFR][1000 genomes]
rs17472276	0.87[EUR][1000 genomes]
rs17557495	1.00[AFR][1000 genomes]
rs17557879	1.00[AFR][1000 genomes]
rs17618397	1.00[AFR][1000 genomes]
rs17679361	1.00[AFR][1000 genomes]
rs17680217	1.00[AFR][1000 genomes]
rs17680410	1.00[AFR][1000 genomes]
rs17680507	1.00[AFR][1000 genomes]
rs17680624	1.00[AFR][1000 genomes]
rs17680685	1.00[AFR][1000 genomes]
rs17680704	1.00[AFR][1000 genomes]
rs2012667	1.00[AFR][1000 genomes]
rs2229773	1.00[AFR][1000 genomes]
rs28362321	1.00[AFR][1000 genomes]
rs33998939	1.00[AFR][1000 genomes]
rs35783632	1.00[AFR][1000 genomes]
rs35898909	1.00[AFR][1000 genomes]
rs41283423	1.00[AFR][1000 genomes]
rs4134993	1.00[AFR][1000 genomes]
rs4134998	1.00[AFR][1000 genomes]
rs4135005	1.00[AFR][1000 genomes]
rs4135007	1.00[AFR][1000 genomes]
rs4135012	1.00[AFR][1000 genomes]
rs4135019	1.00[AFR][1000 genomes]
rs4135021	1.00[AFR][1000 genomes]
rs4135027	1.00[AFR][1000 genomes]
rs4135030	1.00[AFR][1000 genomes]
rs56291600	0.87[EUR][1000 genomes]
rs72819623	1.00[AFR][1000 genomes]
rs72819624	1.00[AFR][1000 genomes]
rs72819628	1.00[AFR][1000 genomes]
rs72819630	1.00[AFR][1000 genomes]
rs72819632	1.00[AFR][1000 genomes]
rs72819633	1.00[AFR][1000 genomes]
rs72819640	0.81[EUR][1000 genomes]
rs72819643	0.81[EUR][1000 genomes]
rs72819648	0.87[EUR][1000 genomes]
rs72819653	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8078319	0.81[EUR][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	nsv1058185	chr17:38629339-38689908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv908224	chr17:38638251-38651447	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38627400-38646200	Weak transcription	Gastric	stomach
2	chr17:38632400-38641000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr17:38632800-38641000	Weak transcription	Osteobl	bone
4	chr17:38633000-38641000	Weak transcription	NHLF	lung
5	chr17:38633400-38643800	Weak transcription	Right Ventricle	heart
6	chr17:38635800-38641800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr17:38636000-38647000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr17:38636000-38648200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr17:38636000-38649600	Genic enhancers	HMEC	breast
10	chr17:38636600-38642600	Weak transcription	Right Atrium	heart
11	chr17:38636800-38642000	Genic enhancers	Hela-S3	cervix
12	chr17:38637000-38640000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr17:38637000-38640000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr17:38637000-38640200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr17:38637000-38640800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr17:38637000-38640800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr17:38637000-38641000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr17:38637000-38643400	Enhancers	K562	blood
19	chr17:38637000-38644800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr17:38637200-38641000	Weak transcription	NH-A	brain
21	chr17:38637200-38641200	Enhancers	Primary T cells fromperipheralblood	blood
22	chr17:38637200-38642000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr17:38637400-38640200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr17:38637400-38641000	Weak transcription	HSMM	muscle
25	chr17:38637400-38642000	Strong transcription	Placenta	Placenta
26	chr17:38637400-38642200	Weak transcription	Adipose Nuclei	Adipose
27	chr17:38637400-38642400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr17:38637400-38642800	Weak transcription	Small Intestine	intestine
29	chr17:38637400-38645600	Weak transcription	Spleen	Spleen
30	chr17:38637400-38648200	Genic enhancers	NHEK	skin
31	chr17:38637600-38640200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr17:38637600-38640200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr17:38637600-38640200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr17:38637600-38640400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr17:38637600-38641000	Weak transcription	NHDF-Ad	bronchial
36	chr17:38637600-38641400	Weak transcription	Dnd41	blood
37	chr17:38637600-38642200	Weak transcription	Fetal Thymus	thymus
38	chr17:38637600-38642600	Weak transcription	Esophagus	oesophagus
39	chr17:38638200-38642800	Weak transcription	Primary T cells from cord blood	blood
40	chr17:38638200-38646400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr17:38638400-38640200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr17:38638400-38643200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr17:38638600-38640000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr17:38638600-38640200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr17:38638600-38642200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr17:38638600-38646200	Weak transcription	Colonic Mucosa	Colon
47	chr17:38638800-38642600	Weak transcription	Lung	lung
48	chr17:38638800-38646000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr17:38639200-38642600	Weak transcription	Stomach Mucosa	stomach
50	chr17:38639200-38645000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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