Variant report

Variant	rs72819648
Chromosome Location	chr17:38635876-38635877
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr17:38635706-38637466	A549	lung:	n/a	chr17:38635912-38635921
2	ESR1	chr17:38635754-38636329	ECC-1	luminal epithelium:	n/a	n/a
3	ESR1	chr17:38635682-38636271	ECC-1	luminal epithelium:	n/a	n/a
4	EP300	chr17:38635770-38637263	A549	lung:	n/a	n/a
5	POLR2A	chr17:38635673-38636585	A549	lung:	n/a	n/a
6	POLR2A	chr17:38635657-38635932	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr17:38635701-38636151	A549	lung:	n/a	n/a
8	ESR1	chr17:38635810-38636312	ECC-1	luminal epithelium:	n/a	n/a
9	FOSL2	chr17:38635773-38636363	A549	lung:	n/a	n/a
10	TCF12	chr17:38635594-38637645	A549	lung:	n/a	chr17:38636751-38636761 chr17:38637155-38637162
11	POLR2A	chr17:38635627-38636731	A549	lung:	n/a	n/a
12	MAX	chr17:38635618-38637736	A549	lung:	n/a	chr17:38636665-38636680 chr17:38636669-38636679 chr17:38636841-38636848 chr17:38636668-38636679 chr17:38636839-38636849
13	ESR1	chr17:38635844-38636233	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr17:38635679-38636201	A549	lung:	n/a	n/a
15	POLR2A	chr17:38612066-38637636	A549	lung:	n/a	n/a
16	POLR2A	chr17:38635615-38637575	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr17:38635791-38637456	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr17:38635625-38636163	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
TNS4	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10153265	0.94[EUR][1000 genomes]
rs11078946	0.91[EUR][1000 genomes]
rs11078947	0.91[EUR][1000 genomes]
rs11871535	0.85[EUR][1000 genomes]
rs17472276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56291600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72819635	0.91[EUR][1000 genomes]
rs72819636	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72819638	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72819640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72819643	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72819651	0.87[EUR][1000 genomes]
rs72819653	1.00[AFR][1000 genomes]
rs72819659	1.00[AFR][1000 genomes]
rs72819661	1.00[AFR][1000 genomes]
rs72819664	1.00[AFR][1000 genomes]
rs72819665	1.00[AFR][1000 genomes]
rs8078319	0.94[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	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38627400-38646200	Weak transcription	Gastric	stomach
2	chr17:38628800-38636400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr17:38630200-38636200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr17:38631000-38636800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:38631200-38636600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr17:38631800-38639600	Enhancers	Primary B cells from peripheral blood	blood
7	chr17:38632000-38637000	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr17:38632000-38637000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr17:38632000-38639200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr17:38632400-38636200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr17:38632400-38636200	Enhancers	Primary T cells fromperipheralblood	blood
12	chr17:38632400-38636200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr17:38632400-38636400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr17:38632400-38636400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr17:38632400-38636400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr17:38632400-38636400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr17:38632400-38636800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr17:38632400-38636800	Weak transcription	Colonic Mucosa	Colon
19	chr17:38632400-38637000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr17:38632400-38639200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr17:38632400-38641000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr17:38632800-38636000	Weak transcription	Right Atrium	heart
23	chr17:38632800-38636200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr17:38632800-38636200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr17:38632800-38636200	Weak transcription	HSMM	muscle
26	chr17:38632800-38636400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr17:38632800-38636400	Weak transcription	Adipose Nuclei	Adipose
28	chr17:38632800-38636400	Weak transcription	Fetal Lung	lung
29	chr17:38632800-38636400	Weak transcription	Stomach Mucosa	stomach
30	chr17:38632800-38636400	Weak transcription	NHDF-Ad	bronchial
31	chr17:38632800-38636400	Strong transcription	NHEK	skin
32	chr17:38632800-38637200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr17:38632800-38641000	Weak transcription	Osteobl	bone
34	chr17:38633000-38636000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr17:38633000-38636000	Weak transcription	Fetal Muscle Leg	muscle
36	chr17:38633000-38636000	Strong transcription	HMEC	breast
37	chr17:38633000-38636400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr17:38633000-38636400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr17:38633000-38637000	Weak transcription	K562	blood
40	chr17:38633000-38641000	Weak transcription	NHLF	lung
41	chr17:38633400-38636000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr17:38633400-38636200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr17:38633400-38643800	Weak transcription	Right Ventricle	heart
44	chr17:38633800-38636000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr17:38634000-38636000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr17:38634000-38639400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr17:38634200-38636400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr17:38634200-38639800	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr17:38634400-38636600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr17:38634400-38638200	Enhancers	Primary T cells from cord blood	blood

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