Variant report

Variant	rs368446242
Chromosome Location	chr5:60241120-60241121
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:284)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:60240675-60241129	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:60240612-60241297	GM12891	blood:	n/a	n/a
3	MAX	chr5:60240685-60241980	HUVEC	blood vessel:	n/a	n/a
4	MAX	chr5:60241107-60241957	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr5:60240584-60242125	Hela-S3	cervix:	n/a	n/a
6	SIN3AK20	chr5:60240673-60242066	PANC-1	pancreas:	n/a	n/a
7	GTF2F1	chr5:60240711-60241890	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr5:60240668-60241533	GM10847	blood:	n/a	n/a
9	POLR2A	chr5:60240225-60242136	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr5:60240669-60241387	U87	brain:	n/a	n/a
11	CEBPD	chr5:60240787-60241142	HepG2	liver:	n/a	n/a
12	UBTF	chr5:60240973-60241670	K562	blood:	n/a	n/a
13	MYC	chr5:60240800-60241489	K562	blood:	n/a	n/a
14	REST	chr5:60240414-60241865	H1-neurons	neurons:	n/a	n/a
15	STAT1	chr5:60240726-60241151	GM12878	blood:	n/a	n/a
16	YY1	chr5:60240644-60241170	GM12878	blood:	n/a	n/a
17	SP1	chr5:60240619-60241148	HepG2	liver:	n/a	chr5:60240887-60240896
18	POLR2A	chr5:60240682-60241261	HUVEC	blood vessel:	n/a	n/a
19	TCF12	chr5:60240554-60241702	A549	lung:	n/a	n/a
20	MYBL2	chr5:60240678-60241195	HepG2	liver:	n/a	n/a
21	POLR2A	chr5:60240639-60241262	HUVEC	blood vessel:	n/a	n/a
22	MYC	chr5:60240662-60242115	K562	blood:	n/a	n/a
23	POLR2A	chr5:60240642-60241766	GM19193	blood:	n/a	n/a
24	POLR2A	chr5:60240645-60241621	HEK293	kidney:	n/a	n/a
25	ZNF143	chr5:60240729-60241619	Hela-S3	cervix:	n/a	n/a
26	SIN3A	chr5:60240634-60241751	GM12878	blood:	n/a	n/a
27	TCF7L2	chr5:60240758-60242103	Hela-S3	cervix:	n/a	n/a
28	MAX	chr5:60240654-60242137	K562	blood:	n/a	n/a
29	ETS1	chr5:60240604-60241143	A549	lung:	n/a	n/a
30	POLR2A	chr5:60240616-60241546	PFSK-1	brain:	n/a	n/a
31	POLR2A	chr5:60240660-60241599	K562	blood:	n/a	n/a
32	TAF1	chr5:60240566-60241840	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr5:60240584-60241564	K562	blood:	n/a	n/a
34	NFIC	chr5:60240619-60241139	GM12878	blood:	n/a	n/a
35	MYC	chr5:60240721-60241706	MCF-7	breast:	n/a	n/a
36	YY1	chr5:60240371-60241359	SK-N-SH	brain:	n/a	n/a
37	PAX5	chr5:60240621-60241406	GM12878	blood:	n/a	chr5:60240992-60241011
38	POLR2A	chr5:60240710-60241251	HCT-116	colon:	n/a	n/a
39	MAZ	chr5:60240693-60242015	Hela-S3	cervix:	n/a	n/a
40	MYC	chr5:60240886-60241508	MCF-7	breast:	n/a	n/a
41	CHD2	chr5:60240692-60241371	K562	blood:	n/a	n/a
42	E2F6	chr5:60241117-60241706	K562	blood:	n/a	n/a
43	MYC	chr5:60240634-60242089	NB4	blood:	n/a	n/a
44	POLR2A	chr5:60240554-60241344	HUVEC	blood vessel:	n/a	n/a
45	HEY1	chr5:60240622-60241413	K562	blood:	n/a	chr5:60241391-60241406
46	POLR2A	chr5:60240702-60241211	HepG2	liver:	n/a	n/a
47	POLR2A	chr5:60240629-60241955	GM12878	blood:	n/a	n/a
48	POLR2A	chr5:60240632-60241716	GM12878	blood:	n/a	n/a
49	MAX	chr5:60240708-60242143	Hela-S3	cervix:	n/a	n/a
50	SP1	chr5:60240581-60241378	A549	lung:	n/a	chr5:60240887-60240896

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:10761355..10761920-chr5:60240758..60241387,2	NB4	blood:
2	chr5:59995886..59998322-chr5:60239584..60242446,2	MCF-7	breast:
3	chr5:60138467..60140103-chr5:60240605..60242461,2	MCF-7	breast:
4	chr1:156698013..156698560-chr5:60240745..60241454,2	Hela-S3	cervix:
5	chr5:59995106..59997535-chr5:60240120..60242292,3	K562	blood:
6	chr2:25194755..25195595-chr5:60240745..60241487,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM6-4	chr5:60241056-60241209	NONHSAT101655

No data

Variant related genes	Relation type
ERCC8	TF binding region
NDUFAF2	TF binding region
ENSG00000143303	Chromatin interaction
ENSG00000112977	Chromatin interaction
ENSG00000143319	Chromatin interaction
ENSG00000164181	Chromatin interaction
ENSG00000224165	Chromatin interaction
ENSG00000115137	Chromatin interaction
ENSG00000035499	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934153	chr5:60004982-60309751	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1017095	chr5:60050600-60414783	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv933326	chr5:60074031-60413061	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv881712	chr5:60116613-60266875	Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv881713	chr5:60116613-60305125	Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv598305	chr5:60116613-60308836	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv881714	chr5:60116613-60313015	Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv881715	chr5:60116613-60356423	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv598306	chr5:60129361-60266875	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv598307	chr5:60129361-60308836	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv881716	chr5:60129361-60313015	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv462199	chr5:60129361-60329624	Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv598308	chr5:60129361-60329624	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv462200	chr5:60135985-60266875	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv598309	chr5:60135985-60266875	Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv598310	chr5:60135985-60308836	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv598311	chr5:60136626-60308836	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
19	nsv520871	chr5:60141245-60320157	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	nsv881717	chr5:60141245-60372582	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
21	nsv598312	chr5:60147754-60313015	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
22	nsv881718	chr5:60147754-60313015	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	nsv881719	chr5:60167888-60241826	Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
24	nsv869065	chr5:60180775-60428760	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
25	nsv1025896	chr5:60190594-60255004	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
26	esv3447747	chr5:60217244-60241866	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
27	nsv933573	chr5:60224875-60309751	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
28	nsv881721	chr5:60232646-60344399	Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
29	nsv933769	chr5:60240706-60309751	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60239400-60241400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr5:60239400-60241600	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr5:60239400-60241800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr5:60239600-60241600	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr5:60239600-60242000	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr5:60239600-60242200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr5:60239600-60242400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr5:60239600-60242400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:60239600-60242400	Active TSS	Right Atrium	heart
10	chr5:60239600-60242600	Active TSS	A549	lung
11	chr5:60239800-60241600	Active TSS	H1 Cell Line	embryonic stem cell
12	chr5:60239800-60242200	Active TSS	Colonic Mucosa	Colon
13	chr5:60239800-60242800	Active TSS	Psoas Muscle	Psoas
14	chr5:60240000-60241400	Active TSS	Fetal Muscle Trunk	muscle
15	chr5:60240000-60241800	Bivalent/Poised TSS	HepG2	liver
16	chr5:60240000-60242000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:60240000-60242000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:60240000-60242200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:60240000-60242200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:60240000-60242200	Active TSS	Fetal Stomach	stomach
21	chr5:60240000-60242200	Active TSS	Gastric	stomach
22	chr5:60240000-60242200	Active TSS	Left Ventricle	heart
23	chr5:60240000-60242200	Active TSS	Ovary	ovary
24	chr5:60240000-60242400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:60240000-60242600	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr5:60240000-60242600	Active TSS	GM12878-XiMat	blood
27	chr5:60240000-60242600	Active TSS	K562	blood
28	chr5:60240200-60241600	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr5:60240200-60241800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:60240200-60242000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr5:60240200-60242000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:60240200-60242000	Active TSS	Fetal Heart	heart
33	chr5:60240200-60242200	Active TSS	H9 Cell Line	embryonic stem cell
34	chr5:60240200-60242200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:60240200-60242200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:60240200-60242200	Active TSS	Muscle Satellite Cultured Cells	--
37	chr5:60240200-60242200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:60240200-60242200	Active TSS	Brain Hippocampus Middle	brain
39	chr5:60240200-60242200	Active TSS	Esophagus	oesophagus
40	chr5:60240200-60242200	Active TSS	Fetal Intestine Large	intestine
41	chr5:60240200-60242200	Active TSS	Fetal Kidney	kidney
42	chr5:60240200-60242200	Active TSS	Lung	lung
43	chr5:60240200-60242200	Active TSS	Pancreas	Pancrea
44	chr5:60240200-60242400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:60240200-60242400	Active TSS	Fetal Intestine Small	intestine
46	chr5:60240200-60242400	Active TSS	HSMM	muscle
47	chr5:60240200-60242600	Active TSS	Brain Germinal Matrix	brain
48	chr5:60240200-60242600	Active TSS	Hela-S3	cervix
49	chr5:60240200-60242600	Active TSS	NHLF	lung
50	chr5:60240200-60242800	Active TSS	NHDF-Ad	bronchial

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