Variant report

Variant	rs558131052
Chromosome Location	chr5:17218711-17218712
allele	A/G
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	POLR2A	chr5:17217581-17219872	IMR90	lung:	n/a	n/a
2	POLR2A	chr5:17218393-17218786	GM12892	blood:	n/a	n/a
3	GTF2F1	chr5:17218416-17219548	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr5:17218400-17219951	PANC-1	pancreas:	n/a	n/a
5	RFX5	chr5:17218380-17219663	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr5:17218575-17219390	HUVEC	blood vessel:	n/a	n/a
7	MXI1	chr5:17218307-17219670	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr5:17217582-17218829	A549	lung:	n/a	n/a
9	ZBTB7A	chr5:17217788-17218892	ECC-1	luminal epithelium:	n/a	chr5:17218302-17218311
10	TBP	chr5:17218413-17219116	Hela-S3	cervix:	n/a	n/a
11	MAX	chr5:17218433-17219496	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr5:17217612-17219520	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr5:17217559-17220039	GM12892	blood:	n/a	n/a
14	CHD2	chr5:17217621-17220199	GM12878	blood:	n/a	chr5:17218841-17218851 chr5:17218352-17218362 chr5:17218195-17218205
15	BHLHE40	chr5:17218432-17218798	GM12878	blood:	n/a	n/a
16	CHD2	chr5:17216100-17219472	Hela-S3	cervix:	n/a	chr5:17218841-17218851 chr5:17218352-17218362 chr5:17218195-17218205
17	ELF1	chr5:17217956-17219425	GM12878	blood:	n/a	chr5:17218681-17218690
18	STAT5A	chr5:17218349-17218912	GM12878	blood:	n/a	chr5:17218844-17218856 chr5:17218382-17218394
19	POLR2A	chr5:17218689-17218781	A549	lung:	n/a	n/a
20	SIN3AK20	chr5:17218437-17218844	SK-N-SH	brain:	n/a	n/a
21	SMARCC1	chr5:17218470-17219491	Hela-S3	cervix:	n/a	n/a
22	RAD21	chr5:17218452-17218927	H1-hESC	embryonic stem cell:	n/a	n/a
23	ZNF143	chr5:17218575-17218799	Hela-S3	cervix:	n/a	n/a
24	MAX	chr5:17215806-17219739	A549	lung:	n/a	chr5:17218380-17218390
25	PBX3	chr5:17218031-17219798	A549	lung:	n/a	n/a
26	SIN3AK20	chr5:17218421-17218778	A549	lung:	n/a	n/a
27	SIN3AK20	chr5:17218447-17218919	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr5:17217589-17221710	GM12878	blood:	n/a	n/a
29	POLR2A	chr5:17218435-17219540	HL-60	blood:	n/a	n/a
30	GATA2	chr5:17218612-17220030	SH-SY5Y	brain:	n/a	chr5:17218972-17218986 chr5:17219962-17219973 chr5:17218977-17218984 chr5:17218977-17218986 chr5:17218976-17218986 chr5:17218978-17218995
31	SIN3A	chr5:17218422-17219860	GM12878	blood:	n/a	n/a
32	POLR2A	chr5:17218218-17218844	ProgFib	skin:	n/a	n/a
33	TEAD4	chr5:17218477-17219118	SK-N-SH	brain:	n/a	n/a
34	CREB1	chr5:17218170-17218732	A549	lung:	n/a	n/a
35	POLR2A	chr5:17216079-17220341	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr5:17218390-17218754	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr5:17218451-17218779	GM12878	blood:	n/a	n/a
38	TAF1	chr5:17218026-17220081	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr5:17217524-17220154	GM12878	blood:	n/a	n/a
40	SMARCB1	chr5:17216135-17219519	Hela-S3	cervix:	n/a	n/a
41	PBX3	chr5:17218407-17218901	A549	lung:	n/a	n/a
42	TCF12	chr5:17215851-17220113	A549	lung:	n/a	chr5:17218840-17218850 chr5:17216098-17216107 chr5:17215997-17216004
43	RAD21	chr5:17217649-17219546	IMR90	lung:	n/a	chr5:17218192-17218202 chr5:17217826-17217839
44	CHD1	chr5:17218661-17218796	H1-hESC	embryonic stem cell:	n/a	n/a
45	YY1	chr5:17218563-17219308	GM12878	blood:	n/a	chr5:17218681-17218690 chr5:17218848-17218857 chr5:17219125-17219134
46	POLR2A	chr5:17218132-17218835	GM12878	blood:	n/a	n/a
47	CEBPB	chr5:17218700-17219174	Hela-S3	cervix:	n/a	n/a
48	RCOR1	chr5:17218550-17218869	GM12878	blood:	n/a	n/a
49	RAD21	chr5:17218330-17219548	Hela-S3	cervix:	n/a	n/a
50	CHD1	chr5:17218465-17220357	GM12878	blood:	n/a	chr5:17218841-17218851

No.	Distal block	Cell Line	Cell type
1	chr5:17215544..17223113-chr5:17298591..17308160,18	MCF-7	breast:
2	chr5:17215446..17220855-chr5:17303141..17309835,13	MCF-7	breast:
3	chr5:17218090..17220467-chr5:17258219..17260640,2	MCF-7	breast:
4	chr5:17218608..17221009-chr5:18112686..18115024,2	MCF-7	breast:
5	chr5:17217787..17219336-chr5:17290050..17291601,2	MCF-7	breast:
6	chr5:17217945..17220809-chr5:17231815..17233949,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000215196	TF binding region
ENSG00000185296	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv830218	chr5:17093162-17290045	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1029959	chr5:17133214-17455995	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv4738	chr5:17178267-17223677	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv521697	chr5:17211649-17225333	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv597312	chr5:17214901-17225333	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv823015	chr5:17216009-17219199	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
9	esv3343514	chr5:17216052-17219850	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
10	esv3409498	chr5:17216377-17219325	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
11	esv3340625	chr5:17216602-17219300	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
12	esv3420964	chr5:17217002-17219850	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17213600-17222200	Active TSS	Fetal Brain Female	brain
2	chr5:17214000-17219800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:17214600-17219400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr5:17214800-17218800	Active TSS	A549	lung
5	chr5:17215000-17219400	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr5:17215400-17219800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr5:17215400-17221000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:17215600-17219000	Active TSS	Brain Cingulate Gyrus	brain
9	chr5:17215800-17219400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr5:17215800-17219400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:17215800-17220400	Active TSS	Brain Anterior Caudate	brain
12	chr5:17216000-17219400	Active TSS	Fetal Kidney	kidney
13	chr5:17216200-17219200	Active TSS	NHLF	lung
14	chr5:17216200-17219400	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr5:17216200-17219400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:17216200-17219800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr5:17216200-17219800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:17216400-17219000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
19	chr5:17216400-17219200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:17216400-17219200	Active TSS	Aorta	Aorta
21	chr5:17216400-17219200	Active TSS	Brain Substantia Nigra	brain
22	chr5:17216400-17219200	Active TSS	Osteobl	bone
23	chr5:17216400-17219400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:17216400-17219400	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr5:17216400-17219400	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr5:17216400-17219400	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr5:17216400-17219400	Active TSS	HSMM	muscle
28	chr5:17216400-17219600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:17216400-17219600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:17216400-17219600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:17216400-17219600	Active TSS	Ovary	ovary
32	chr5:17216400-17219600	Active TSS	Rectal Smooth Muscle	rectum
33	chr5:17216400-17219800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:17216400-17219800	Active TSS	HSMMtube	muscle
35	chr5:17216400-17220000	Active TSS	NHDF-Ad	bronchial
36	chr5:17216400-17221000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:17216600-17219200	Active TSS	Fetal Lung	lung
38	chr5:17216600-17220800	Active TSS	Brain Angular Gyrus	brain
39	chr5:17216800-17219200	Bivalent/Poised TSS	Psoas Muscle	Psoas
40	chr5:17216800-17219400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:17216800-17219400	Active TSS	GM12878-XiMat	blood
42	chr5:17216800-17219600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:17217000-17219000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:17217000-17219000	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr5:17217000-17219200	Active TSS	Placenta Amnion	Placenta Amnion
46	chr5:17217000-17219200	Active TSS	HMEC	breast
47	chr5:17217000-17219400	Active TSS	Right Atrium	heart
48	chr5:17217000-17219400	Active TSS	NH-A	brain
49	chr5:17217000-17219400	Active TSS	NHEK	skin
50	chr5:17217000-17219600	Active TSS	Muscle Satellite Cultured Cells	--

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