Variant report

Variant	rs16868633
Chromosome Location	chr5:16466226-16466227
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:323)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr5:16465376-16466638	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:16465160-16466591	GM18951	blood:	n/a	n/a
3	NFIC	chr5:16465401-16466229	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr5:16465465-16466684	HepG2	liver:	n/a	n/a
5	TAF1	chr5:16465681-16466550	SK-N-SH	brain:	n/a	n/a
6	RCOR1	chr5:16465598-16466622	HepG2	liver:	n/a	n/a
7	POLR2A	chr5:16465088-16466588	Raji	blood:	n/a	n/a
8	MAX	chr5:16465167-16466591	Hela-S3	cervix:	n/a	chr5:16466383-16466393
9	POLR2A	chr5:16465484-16466764	HUVEC	blood vessel:	n/a	n/a
10	MXI1	chr5:16464469-16466878	SK-N-SH	brain:	n/a	n/a
11	SP1	chr5:16465541-16466510	A549	lung:	n/a	chr5:16465977-16465987 chr5:16466159-16466169
12	POLR2A	chr5:16465644-16466436	GM12891	blood:	n/a	n/a
13	EGR1	chr5:16465550-16466535	H1-hESC	embryonic stem cell:	n/a	chr5:16465976-16465990
14	SIN3AK20	chr5:16465431-16466339	HCT-116	colon:	n/a	n/a
15	POLR2A	chr5:16465439-16466534	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr5:16465207-16466818	K562	blood:	n/a	n/a
17	POLR2A	chr5:16465458-16466635	H1-hESC	embryonic stem cell:	n/a	n/a
18	GABPA	chr5:16465247-16466761	SK-N-SH	brain:	n/a	n/a
19	ZNF263	chr5:16465013-16466420	K562	blood:	n/a	chr5:16465172-16465193
20	TBP	chr5:16465682-16466623	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr5:16465589-16466307	U87	brain:	n/a	n/a
22	POLR2A	chr5:16464919-16466784	K562	blood:	n/a	n/a
23	POLR2A	chr5:16465622-16466349	HepG2	liver:	n/a	n/a
24	MAX	chr5:16465433-16466397	H1-hESC	embryonic stem cell:	n/a	chr5:16466383-16466393
25	POU2F2	chr5:16465613-16466438	GM12891	blood:	n/a	chr5:16465856-16465868
26	POLR2A	chr5:16465607-16466634	HUVEC	blood vessel:	n/a	n/a
27	REST	chr5:16465528-16466540	A549	lung:	n/a	n/a
28	CHD2	chr5:16465678-16466731	GM12878	blood:	n/a	n/a
29	TAF1	chr5:16465666-16466500	PFSK-1	brain:	n/a	n/a
30	MAX	chr5:16465267-16466625	K562	blood:	n/a	chr5:16466383-16466393
31	POLR2A	chr5:16465012-16467365	GM19193	blood:	n/a	n/a
32	MYC	chr5:16465303-16466580	K562	blood:	n/a	chr5:16466383-16466393
33	ZNF143	chr5:16465280-16466456	Hela-S3	cervix:	n/a	n/a
34	SIN3AK20	chr5:16465469-16466478	PANC-1	pancreas:	n/a	n/a
35	POU2F2	chr5:16465566-16466333	GM12878	blood:	n/a	chr5:16465856-16465868
36	MXI1	chr5:16465240-16466498	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr5:16465426-16466430	U87	brain:	n/a	n/a
38	POLR2A	chr5:16465558-16466378	GM12878	blood:	n/a	n/a
39	POLR2A	chr5:16464724-16466619	K562	blood:	n/a	n/a
40	POLR2A	chr5:16465473-16466587	H1-neurons	neurons:	n/a	n/a
41	MAX	chr5:16465307-16466447	SK-N-SH	brain:	n/a	chr5:16466383-16466393
42	MAZ	chr5:16465587-16466693	GM12878	blood:	n/a	chr5:16466383-16466393
43	GTF2F1	chr5:16465585-16466229	K562	blood:	n/a	n/a
44	CHD2	chr5:16465756-16466534	H1-hESC	embryonic stem cell:	n/a	n/a
45	ELF1	chr5:16465268-16466478	HCT-116	colon:	n/a	chr5:16465981-16465990 chr5:16466272-16466284 chr5:16465916-16465925
46	BRCA1	chr5:16465752-16466632	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr5:16465442-16466506	H1-neurons	neurons:	n/a	n/a
48	NFIC	chr5:16465696-16466512	GM12878	blood:	n/a	n/a
49	POLR2A	chr5:16464969-16466761	GM18505	blood:	n/a	n/a
50	POLR2A	chr5:16465124-16466791	GM15510	blood:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:53845867..53846793-chr5:16465762..16466451,2	Hela-S3	cervix:
2	chr5:16465955..16466470-chr6:27805273..27806141,2	Hela-S3	cervix:
3	chr5:16466045..16468627-chr5:16547645..16550554,2	K562	blood:
4	chr5:16466055..16466708-chr6:27782187..27782742,2	Hela-S3	cervix:
5	chr3:138665802..138666567-chr5:16466039..16466790,2	Hela-S3	cervix:
6	chr11:71822838..71823476-chr5:16465889..16466515,2	Hela-S3	cervix:
7	chr15:44069380..44070317-chr5:16465731..16466497,2	Hela-S3	cervix:
8	chr17:34890926..34891658-chr5:16465512..16466339,2	Hela-S3	cervix:
9	chr5:16428340..16430964-chr5:16464329..16467198,2	K562	blood:
10	chr19:11200065..11200994-chr5:16465588..16466257,3	Hela-S3	cervix:
11	chr5:16465502..16466469-chr7:99646908..99647748,2	Hela-S3	cervix:
12	chr1:17231076..17231856-chr5:16465729..16466465,2	Hela-S3	cervix:
13	chr5:16465768..16466414-chr9:74764192..74765086,2	Hela-S3	cervix:
14	chr12:133562667..133563485-chr5:16465530..16466359,2	Hela-S3	cervix:
15	chr22:41347236..41347758-chr5:16465969..16466557,2	Hela-S3	cervix:
16	chr17:33570026..33570610-chr5:16465687..16466638,2	Hela-S3	cervix:
17	chr5:16177598..16179739-chr5:16465554..16467569,2	MCF-7	breast:
18	chr5:16465793..16466651-chrX:37544829..37545543,2	Hela-S3	cervix:
19	chr17:61677737..61678589-chr5:16465493..16466451,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXL7-10	chr5:16465900-16468802	NONHSAT100606

No data

Variant related genes	Relation type
ZNF622	TF binding region
ENSG00000183770	Chromatin interaction
ENSG00000128886	Chromatin interaction
ENSG00000249737	Chromatin interaction
ENSG00000183654	Chromatin interaction
ENSG00000197111	Chromatin interaction
ENSG00000141140	Chromatin interaction
ENSG00000272426	Chromatin interaction
ENSG00000206262	Chromatin interaction
ENSG00000110200	Chromatin interaction
ENSG00000184886	Chromatin interaction
ENSG00000166750	Chromatin interaction
ENSG00000184348	Chromatin interaction
ENSG00000166529	Chromatin interaction
ENSG00000136463	Chromatin interaction
ENSG00000198393	Chromatin interaction
ENSG00000130164	Chromatin interaction
ENSG00000182611	Chromatin interaction
ENSG00000047597	Chromatin interaction
ENSG00000100387	Chromatin interaction
ENSG00000119125	Chromatin interaction

rs_ID	r²[population]
rs10452497	1.00[EUR][1000 genomes]
rs13170268	1.00[EUR][1000 genomes]
rs16868520	1.00[EUR][1000 genomes]
rs16868547	1.00[EUR][1000 genomes]
rs16868549	1.00[EUR][1000 genomes]
rs16868554	1.00[EUR][1000 genomes]
rs16868635	0.85[MKK][hapmap]
rs16868690	1.00[EUR][1000 genomes]
rs16868696	1.00[EUR][1000 genomes]
rs16899113	1.00[EUR][1000 genomes]
rs2401881	0.85[MKK][hapmap]
rs3849101	1.00[EUR][1000 genomes]
rs3860133	1.00[EUR][1000 genomes]
rs3901884	1.00[EUR][1000 genomes]
rs4608921	1.00[EUR][1000 genomes]
rs56284496	1.00[EUR][1000 genomes]
rs56719397	1.00[EUR][1000 genomes]
rs58029623	1.00[EUR][1000 genomes]
rs58526375	1.00[EUR][1000 genomes]
rs60656173	1.00[EUR][1000 genomes]
rs61156892	1.00[EUR][1000 genomes]
rs6877375	1.00[EUR][1000 genomes]
rs6880065	1.00[EUR][1000 genomes]
rs73753046	1.00[EUR][1000 genomes]
rs73753309	1.00[EUR][1000 genomes]
rs73753319	1.00[EUR][1000 genomes]
rs73753390	1.00[EUR][1000 genomes]
rs7710117	1.00[EUR][1000 genomes]
rs7724068	1.00[EUR][1000 genomes]
rs7725043	1.00[EUR][1000 genomes]
rs7726000	1.00[EUR][1000 genomes]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16463000-16467200	Active TSS	Right Ventricle	heart
2	chr5:16463400-16467600	Active TSS	HSMMtube	muscle
3	chr5:16463600-16466800	Active TSS	Right Atrium	heart
4	chr5:16463800-16467200	Active TSS	Pancreas	Pancrea
5	chr5:16463800-16467200	Active TSS	Psoas Muscle	Psoas
6	chr5:16463800-16468000	Active TSS	Left Ventricle	heart
7	chr5:16464000-16467000	Active TSS	HSMM	muscle
8	chr5:16464000-16467000	Active TSS	NHLF	lung
9	chr5:16464000-16468200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr5:16464200-16466600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:16464200-16467200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:16464200-16467200	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr5:16464200-16467400	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr5:16464400-16466800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:16464400-16466800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:16464400-16466800	Active TSS	Lung	lung
17	chr5:16464400-16467000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:16464400-16467200	Active TSS	H1 Cell Line	embryonic stem cell
19	chr5:16464400-16467200	Active TSS	A549	lung
20	chr5:16464400-16467400	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr5:16464400-16468200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:16464600-16466800	Active TSS	Aorta	Aorta
23	chr5:16464600-16466800	Active TSS	Ovary	ovary
24	chr5:16464600-16467000	Active TSS	Fetal Intestine Small	intestine
25	chr5:16464600-16467000	Active TSS	Stomach Mucosa	stomach
26	chr5:16464600-16467000	Active TSS	K562	blood
27	chr5:16464800-16466600	Active TSS	Esophagus	oesophagus
28	chr5:16464800-16466800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr5:16464800-16466800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:16464800-16466800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:16464800-16466800	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr5:16464800-16466800	Active TSS	Small Intestine	intestine
33	chr5:16464800-16467000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:16464800-16467000	Active TSS	NHDF-Ad	bronchial
35	chr5:16464800-16467200	Active TSS	Fetal Intestine Large	intestine
36	chr5:16464800-16467400	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr5:16464800-16467400	Active TSS	GM12878-XiMat	blood
38	chr5:16465000-16466400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
39	chr5:16465000-16466400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:16465000-16466600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr5:16465000-16466600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr5:16465000-16466600	Active TSS	Colon Smooth Muscle	Colon
43	chr5:16465000-16466600	Active TSS	Fetal Thymus	thymus
44	chr5:16465000-16466600	Active TSS	Gastric	stomach
45	chr5:16465000-16466600	Active TSS	Thymus	Thymus
46	chr5:16465000-16466600	Active TSS	NH-A	brain
47	chr5:16465000-16466800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:16465000-16466800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:16465000-16466800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:16465000-16466800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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