Variant report

Variant	rs10924871
Chromosome Location	chr1:247094914-247094915
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	TAF1	chr1:247094869-247095490	GM12892	blood:	n/a	n/a
2	BHLHE40	chr1:247094859-247095823	K562	blood:	n/a	chr1:247095671-247095687 chr1:247095618-247095634 chr1:247095039-247095055 chr1:247094898-247094914 chr1:247095045-247095061
3	REST	chr1:247094562-247095801	H1-neurons	neurons:	n/a	chr1:247095608-247095621 chr1:247095200-247095213 chr1:247095204-247095213 chr1:247095304-247095322
4	MAX	chr1:247094815-247095723	ECC-1	luminal epithelium:	n/a	chr1:247094857-247094867
5	POLR2A	chr1:247094827-247095744	HCT-116	colon:	n/a	n/a
6	POLR2A	chr1:247094914-247095999	GM12891	blood:	n/a	n/a
7	TAF1	chr1:247094811-247095463	GM12878	blood:	n/a	n/a
8	MXI1	chr1:247093876-247095722	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr1:247094866-247095398	GM12891	blood:	n/a	n/a
10	ETS1	chr1:247094859-247095847	GM12878	blood:	n/a	chr1:247095582-247095595 chr1:247095682-247095693 chr1:247095343-247095352
11	UBTF	chr1:247094316-247095594	K562	blood:	n/a	n/a
12	ZBTB7A	chr1:247094318-247095704	K562	blood:	n/a	chr1:247094708-247094717
13	ATF2	chr1:247094857-247095646	GM12878	blood:	n/a	n/a
14	PML	chr1:247094803-247095723	MCF-7	breast:	n/a	n/a
15	CTCF	chr1:247094820-247094970	GM12866	blood:	n/a	n/a
16	HMGN3	chr1:247094363-247096010	K562	blood:	n/a	n/a
17	NR2F2	chr1:247094834-247095849	K562	blood:	n/a	n/a
18	UBTF	chr1:247094148-247095513	K562	blood:	n/a	n/a
19	POLR2A	chr1:247094859-247095507	K562	blood:	n/a	n/a
20	MAX	chr1:247094808-247095872	H1-hESC	embryonic stem cell:	n/a	chr1:247094857-247094867
21	HEY1	chr1:247094840-247095388	K562	blood:	n/a	chr1:247094899-247094914 chr1:247095017-247095032
22	POLR2A	chr1:247094910-247095819	HCT-116	colon:	n/a	n/a
23	CBX3	chr1:247094818-247095865	K562	blood:	n/a	n/a
24	SP1	chr1:247094800-247095743	A549	lung:	n/a	chr1:247095292-247095306 chr1:247095082-247095092 chr1:247094866-247094880 chr1:247094851-247094865 chr1:247095295-247095306
25	TAF1	chr1:247094811-247095617	MCF-7	breast:	n/a	n/a
26	MAX	chr1:247094793-247095690	K562	blood:	n/a	chr1:247094857-247094867
27	TAF1	chr1:247094817-247095397	HepG2	liver:	n/a	n/a
28	TAF1	chr1:247094770-247095654	ECC-1	luminal epithelium:	n/a	n/a
29	NFIC	chr1:247094830-247095060	HepG2	liver:	n/a	n/a
30	POLR2A	chr1:247094764-247095592	H1-neurons	neurons:	n/a	n/a
31	BCLAF1	chr1:247094885-247095739	GM12878	blood:	n/a	chr1:247094899-247094912 chr1:247094899-247094908 chr1:247095150-247095163 chr1:247094900-247094913 chr1:247095042-247095055
32	SIN3AK20	chr1:247094824-247095459	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr1:247094902-247095837	HepG2	liver:	n/a	n/a
34	TAF1	chr1:247094828-247095507	A549	lung:	n/a	n/a
35	SIN3AK20	chr1:247094783-247095756	K562	blood:	n/a	n/a
36	POLR2A	chr1:247094285-247095822	GM18505	blood:	n/a	n/a
37	ZBTB33	chr1:247094807-247095878	A549	lung:	n/a	n/a
38	CHD2	chr1:247094410-247095843	HepG2	liver:	n/a	chr1:247095150-247095160 chr1:247094705-247094715 chr1:247095343-247095352
39	POLR2A	chr1:247094810-247095856	MCF-7	breast:	n/a	n/a
40	POLR2A	chr1:247094286-247095883	Raji	blood:	n/a	n/a
41	POLR2A	chr1:247094782-247095476	Hela-S3	cervix:	n/a	n/a
42	NRF1	chr1:247094055-247096131	SK-N-SH	brain:	n/a	chr1:247094670-247094679 chr1:247095208-247095219
43	E2F1	chr1:247094328-247095761	Hela-S3	cervix:	n/a	chr1:247094897-247094906 chr1:247095211-247095221
44	CREB1	chr1:247094847-247095778	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr1:247094803-247095381	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr1:247094898-247095612	PBDE	blood:	n/a	n/a
47	TAF1	chr1:247094833-247095506	H1-hESC	embryonic stem cell:	n/a	n/a
48	SIN3A	chr1:247094909-247095656	GM12878	blood:	n/a	chr1:247095200-247095213 chr1:247095125-247095136
49	TCF12	chr1:247094850-247095966	A549	lung:	n/a	chr1:247095677-247095684
50	YY1	chr1:247094790-247095649	GM12891	blood:	n/a	chr1:247095010-247095019 chr1:247094892-247094906 chr1:247094900-247094909 chr1:247095041-247095055 chr1:247095046-247095055 chr1:247094822-247094836

No.	Distal block	Cell Line	Cell type
1	chr1:247092592..247095168-chr1:247240880..247243272,2	K562	blood:
2	chr1:247093657..247096650-chr1:247335096..247337981,2	K562	blood:
3	chr1:247094834..247095447-chr11:61582600..61583201,2	Hela-S3	cervix:
4	chr1:247094403..247095339-chr8:134309571..134310460,2	Hela-S3	cervix:
5	chr1:247093791..247096097-chr1:247493835..247497465,5	K562	blood:
6	chr1:247093628..247096678-chr1:247168698..247172076,4	MCF-7	breast:
7	chr1:247092987..247095907-chr22:39713891..39716269,2	K562	blood:
8	chr1:247093046..247095250-chr1:247265472..247268873,4	MCF-7	breast:
9	chr1:247094698..247095429-chr16:2204826..2205626,2	HCT-116	colon:
10	chr1:247094499..247095162-chr17:8339191..8339716,2	Hela-S3	cervix:
11	chr1:247093731..247095297-chr1:247494500..247497465,3	K562	blood:
12	chr1:247094550..247095484-chr1:247241843..247242470,2	MCF-7	breast:
13	chr1:247092146..247096759-chr1:247274350..247278356,6	MCF-7	breast:
14	chr1:247093552..247097819-chr1:247240197..247243590,5	MCF-7	breast:
15	chr1:247092220..247095330-chr1:247240373..247243272,3	K562	blood:
16	chr1:247093881..247096879-chr1:247169993..247171703,3	K562	blood:
17	chr1:247092719..247096472-chr1:247266171..247268660,3	MCF-7	breast:
18	chr1:247094242..247096736-chr1:249153131..249154703,2	K562	blood:

Variant related genes	Relation type
AHCTF1	TF binding region
ENSG00000166579	Chromatin interaction
ENSG00000188295	Chromatin interaction
ENSG00000196418	Chromatin interaction
ENSG00000206630	Chromatin interaction
ENSG00000149485	Chromatin interaction
ENSG00000227237	Chromatin interaction
ENSG00000104419	Chromatin interaction
ENSG00000162714	Chromatin interaction
ENSG00000100316	Chromatin interaction
ENSG00000263764	Chromatin interaction
ENSG00000222326	Chromatin interaction
ENSG00000197472	Chromatin interaction
ENSG00000221953	Chromatin interaction
ENSG00000171163	Chromatin interaction
ENSG00000260260	Chromatin interaction
ENSG00000135747	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12061420	0.86[AFR][1000 genomes]
rs12065654	0.86[AFR][1000 genomes]
rs12096743	0.81[AFR][1000 genomes]
rs6659764	0.81[AFR][1000 genomes]
rs6686324	0.81[AFR][1000 genomes]
rs73144222	0.81[AFR][1000 genomes]
rs73146640	0.85[AFR][1000 genomes]
rs7512439	0.88[AFR][1000 genomes]
rs7516596	0.86[AFR][1000 genomes]
rs7537256	0.86[AFR][1000 genomes]
rs7550911	0.86[AFR][1000 genomes]
rs9729188	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking 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	34 gene(s)	inside rSNPs	diseases
5	nsv873424	chr1:246991094-247366380	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
7	nsv1000602	chr1:247044627-247226568	Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv873425	chr1:247069514-247156066	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv873426	chr1:247069514-247162628	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	esv3438502	chr1:247093554-247096502	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
11	nsv535417	chr1:247094131-247409000	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
12	nsv1005639	chr1:247094161-247401380	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
13	nsv535418	chr1:247094161-247401380	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 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	chr1:247092800-247095800	Active TSS	A549	lung
2	chr1:247093000-247095800	Active TSS	HSMM	muscle
3	chr1:247093000-247096200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:247093000-247096200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:247093000-247096200	Active TSS	GM12878-XiMat	blood
6	chr1:247093200-247095800	Active TSS	Ovary	ovary
7	chr1:247093400-247095800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:247093400-247095800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:247093400-247095800	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr1:247093400-247096000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:247093400-247096000	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr1:247093400-247096000	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr1:247093400-247096000	Active TSS	Muscle Satellite Cultured Cells	--
14	chr1:247093400-247096000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:247093400-247096000	Active TSS	Brain Germinal Matrix	brain
16	chr1:247093400-247096000	Active TSS	Right Ventricle	heart
17	chr1:247093400-247096000	Active TSS	HSMMtube	muscle
18	chr1:247093400-247096000	Active TSS	NHLF	lung
19	chr1:247093400-247096200	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr1:247093400-247096200	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr1:247093400-247096200	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr1:247093400-247096200	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr1:247093400-247096200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:247093400-247096400	Active TSS	H9 Cell Line	embryonic stem cell
25	chr1:247093600-247095000	Active TSS	Right Atrium	heart
26	chr1:247093600-247095400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:247093600-247095600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:247093600-247095800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:247093600-247095800	Active TSS	Aorta	Aorta
30	chr1:247093600-247095800	Active TSS	HepG2	liver
31	chr1:247093600-247095800	Active TSS	HMEC	breast
32	chr1:247093600-247095800	Active TSS	NHEK	skin
33	chr1:247093600-247096000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr1:247093600-247096000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:247093600-247096000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:247093600-247096000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:247093600-247096000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:247093600-247096000	Active TSS	Colonic Mucosa	Colon
39	chr1:247093600-247096000	Active TSS	Esophagus	oesophagus
40	chr1:247093600-247096000	Active TSS	Psoas Muscle	Psoas
41	chr1:247093600-247096000	Active TSS	NHDF-Ad	bronchial
42	chr1:247093600-247096200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:247093800-247095600	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr1:247093800-247095600	Active TSS	Lung	lung
45	chr1:247093800-247095800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:247093800-247095800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:247093800-247095800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:247093800-247095800	Active TSS	Brain Angular Gyrus	brain
49	chr1:247093800-247095800	Active TSS	Duodenum Mucosa	Duodenum
50	chr1:247093800-247095800	Active TSS	Fetal Intestine Large	intestine

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