Variant report

Variant	rs73980856
Chromosome Location	chr17:18128632-18128633
allele	C/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	MAX	chr17:18128348-18129235	K562	blood:	n/a	n/a
2	POLR2A	chr17:18128270-18128730	U87	brain:	n/a	n/a
3	CHD2	chr17:18128356-18128887	K562	blood:	n/a	chr17:18128793-18128803
4	ATF3	chr17:18128570-18128864	K562	blood:	n/a	chr17:18128797-18128806 chr17:18128707-18128716
5	RCOR1	chr17:18128528-18128830	HepG2	liver:	n/a	n/a
6	ETS1	chr17:18128477-18128843	K562	blood:	n/a	chr17:18128687-18128700 chr17:18128688-18128701
7	POLR2A	chr17:18128438-18129433	K562	blood:	n/a	n/a
8	SP1	chr17:18128408-18129000	A549	lung:	n/a	chr17:18128792-18128802 chr17:18128791-18128803 chr17:18128792-18128802 chr17:18128793-18128802 chr17:18128793-18128802 chr17:18128792-18128801 chr17:18128791-18128803
9	MAX	chr17:18128531-18128766	K562	blood:	n/a	n/a
10	MAX	chr17:18128541-18128889	HepG2	liver:	n/a	n/a
11	CREB1	chr17:18127504-18129217	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr17:18127420-18128777	H1-hESC	embryonic stem cell:	n/a	n/a
13	KAP1	chr17:18127972-18128703	U2OS	brain:	n/a	n/a
14	RFX5	chr17:18127469-18128679	H1-hESC	embryonic stem cell:	n/a	n/a
15	SP1	chr17:18128474-18129015	GM12878	blood:	n/a	chr17:18128792-18128802 chr17:18128791-18128803 chr17:18128792-18128802 chr17:18128793-18128802 chr17:18128793-18128802 chr17:18128792-18128801 chr17:18128791-18128803
16	YY1	chr17:18128494-18128877	GM12892	blood:	n/a	chr17:18128550-18128561 chr17:18128795-18128809
17	REST	chr17:18128415-18128643	A549	lung:	n/a	n/a
18	MXI1	chr17:18128576-18128780	K562	blood:	n/a	n/a
19	SIX5	chr17:18128479-18128854	K562	blood:	n/a	chr17:18128689-18128698 chr17:18128691-18128700
20	BHLHE40	chr17:18128456-18129081	GM12878	blood:	n/a	n/a
21	PBX3	chr17:18128497-18129108	A549	lung:	n/a	n/a
22	MAX	chr17:18128080-18129020	NB4	blood:	n/a	n/a
23	POLR2A	chr17:18128625-18129113	HCT-116	colon:	n/a	n/a
24	SIX5	chr17:18128473-18128852	GM12878	blood:	n/a	chr17:18128689-18128698 chr17:18128691-18128700
25	POLR2A	chr17:18128516-18129163	HUVEC	blood vessel:	n/a	n/a
26	YY1	chr17:18128506-18128849	ECC-1	luminal epithelium:	n/a	chr17:18128550-18128561 chr17:18128795-18128809
27	POLR2A	chr17:18128434-18128826	Hela-S3	cervix:	n/a	n/a
28	JUND	chr17:18128507-18129114	A549	lung:	n/a	chr17:18128796-18128805 chr17:18128800-18128809
29	MYC	chr17:18128329-18129148	NB4	blood:	n/a	n/a
30	NRF1	chr17:18128159-18128798	H1-hESC	embryonic stem cell:	n/a	n/a
31	ELF1	chr17:18128462-18128991	GM12878	blood:	n/a	chr17:18128753-18128765
32	BACH1	chr17:18127800-18129072	H1-hESC	embryonic stem cell:	n/a	n/a
33	SP2	chr17:18128608-18128945	K562	blood:	n/a	chr17:18128787-18128802
34	E2F1	chr17:18128509-18129167	Hela-S3	cervix:	n/a	chr17:18128657-18128667 chr17:18128702-18128712
35	CREB1	chr17:18128542-18129088	A549	lung:	n/a	n/a
36	RFX5	chr17:18128521-18128786	HepG2	liver:	n/a	n/a
37	HA-E2F1	chr17:18128469-18129143	Hela-S3	cervix:	n/a	chr17:18128657-18128667 chr17:18128702-18128712
38	MAX	chr17:18128486-18129053	Hela-S3	cervix:	n/a	n/a
39	BCLAF1	chr17:18128522-18128812	GM12878	blood:	n/a	chr17:18128709-18128722 chr17:18128707-18128720
40	ZC3H11A	chr17:18128442-18128964	K562	blood:	n/a	n/a
41	CREB1	chr17:18128499-18129113	HepG2	liver:	n/a	n/a
42	POLR2A	chr17:18128498-18128726	Hela-S3	cervix:	n/a	n/a
43	CHD2	chr17:18128510-18129025	Hela-S3	cervix:	n/a	chr17:18128793-18128803
44	YY1	chr17:18128496-18128838	GM12878	blood:	n/a	chr17:18128550-18128561 chr17:18128795-18128809
45	RUNX3	chr17:18128592-18128865	GM12878	blood:	n/a	n/a
46	CHD2	chr17:18128502-18128960	GM12878	blood:	n/a	chr17:18128793-18128803
47	FOS	chr17:18128568-18128974	K562	blood:	n/a	chr17:18128796-18128805 chr17:18128800-18128809
48	TCF12	chr17:18128419-18128989	A549	lung:	n/a	n/a
49	USF1	chr17:18128541-18128862	K562	blood:	n/a	n/a
50	ZNF143	chr17:18128400-18128955	Hela-S3	cervix:	n/a	chr17:18128689-18128707 chr17:18128689-18128698 chr17:18128691-18128700

No.	Distal block	Cell Line	Cell type
1	chr17:18127100..18135567-chr17:18158023..18168767,25	MCF-7	breast:
2	chr17:18127536..18130433-chr17:18148836..18151541,2	MCF-7	breast:
3	chr17:18127269..18131326-chr17:18216439..18220320,6	MCF-7	breast:
4	chr17:18086116..18088007-chr17:18126945..18129861,2	K562	blood:
5	chr17:18128609..18130304-chr17:18157638..18159883,2	K562	blood:
6	chr17:18127264..18129965-chr17:18170745..18172525,2	K562	blood:
7	chr17:18125152..18133137-chr17:18145532..18152012,9	K562	blood:
8	chr17:18128446..18130837-chr17:18148104..18152552,6	MCF-7	breast:
9	chr17:18127210..18129786-chr17:18153749..18156676,2	MCF-7	breast:
10	chr17:18127671..18130325-chr17:18161981..18165246,3	K562	blood:
11	chr17:18126073..18132705-chr17:18158327..18165323,14	MCF-7	breast:

Variant related genes	Relation type
LLGL1	TF binding region
ENSG00000177302	Chromatin interaction
ENSG00000260647	Chromatin interaction
ENSG00000177427	Chromatin interaction
ENSG00000177731	Chromatin interaction
ENSG00000176994	Chromatin interaction
ENSG00000091542	Chromatin interaction
ENSG00000266677	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11540888	1.00[ASN][1000 genomes]
rs11870681	1.00[ASN][1000 genomes]
rs16961058	1.00[ASN][1000 genomes]
rs16961112	1.00[ASN][1000 genomes]
rs2125154	1.00[ASN][1000 genomes]
rs28671051	1.00[ASN][1000 genomes]
rs4924848	1.00[ASN][1000 genomes]
rs4925170	1.00[ASN][1000 genomes]
rs4925173	1.00[ASN][1000 genomes]
rs4925175	1.00[ASN][1000 genomes]
rs4925180	1.00[ASN][1000 genomes]
rs55973639	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61753153	1.00[ASN][1000 genomes]
rs6502648	1.00[ASN][1000 genomes]
rs7215491	1.00[ASN][1000 genomes]
rs7222589	1.00[ASN][1000 genomes]
rs73980813	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980819	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980849	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8074858	1.00[ASN][1000 genomes]
rs8080285	1.00[ASN][1000 genomes]
rs8082574	1.00[ASN][1000 genomes]
rs9893254	1.00[ASN][1000 genomes]
rs9894005	1.00[ASN][1000 genomes]
rs9894616	1.00[ASN][1000 genomes]
rs9902011	1.00[ASN][1000 genomes]
rs9902498	1.00[ASN][1000 genomes]
rs9903762	1.00[ASN][1000 genomes]
rs9913916	1.00[ASN][1000 genomes]
rs9915858	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv1062828	chr17:18098110-18136330	Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv543245	chr17:18098110-18136330	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	nsv907773	chr17:18099962-18206234	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv907774	chr17:18103907-18206234	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv907775	chr17:18108496-18206234	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv543246	chr17:18121007-18165604	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
13	nsv9503	chr17:18121474-18169166	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
14	nsv907776	chr17:18122485-18170948	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
15	nsv1066718	chr17:18125122-18180807	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	esv3440348	chr17:18127752-18130600	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
17	esv3378937	chr17:18128027-18130225	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
18	esv19055	chr17:18128439-18129535	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 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	chr17:18127400-18128800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:18127400-18128800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr17:18127400-18128800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr17:18127400-18129200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr17:18127400-18130000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr17:18127600-18129800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr17:18127800-18129200	Enhancers	Fetal Brain Male	brain
8	chr17:18127800-18129400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:18127800-18129800	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr17:18127800-18129800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:18127800-18129800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr17:18127800-18129800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr17:18127800-18130200	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr17:18128000-18128800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr17:18128000-18128800	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr17:18128000-18129200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr17:18128000-18129600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:18128000-18129600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr17:18128000-18129600	Bivalent/Poised TSS	HepG2	liver
20	chr17:18128000-18129800	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr17:18128000-18130600	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr17:18128200-18128800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr17:18128200-18129200	Enhancers	Primary B cells from peripheral blood	blood
24	chr17:18128200-18129200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr17:18128200-18129200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr17:18128200-18129200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr17:18128200-18129200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr17:18128200-18129200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr17:18128200-18129200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr17:18128200-18129200	Enhancers	Liver	Liver
31	chr17:18128200-18129200	Enhancers	Stomach Mucosa	stomach
32	chr17:18128200-18129200	Enhancers	GM12878-XiMat	blood
33	chr17:18128200-18129400	Active TSS	Psoas Muscle	Psoas
34	chr17:18128200-18129600	Active TSS	Small Intestine	intestine
35	chr17:18128200-18129600	Active TSS	Thymus	Thymus
36	chr17:18128200-18130000	Active TSS	Fetal Kidney	kidney
37	chr17:18128200-18130400	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr17:18128400-18128800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr17:18128400-18128800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr17:18128400-18128800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr17:18128400-18128800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr17:18128400-18128800	Flanking Active TSS	HMEC	breast
43	chr17:18128400-18129200	Enhancers	Primary B cells from cord blood	blood
44	chr17:18128400-18129200	Enhancers	Primary T cells from cord blood	blood
45	chr17:18128400-18129400	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr17:18128400-18129600	Active TSS	Esophagus	oesophagus
47	chr17:18128400-18129600	Active TSS	Rectal Smooth Muscle	rectum
48	chr17:18128400-18129800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr17:18128400-18129800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr17:18128400-18129800	Active TSS	Aorta	Aorta

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