Variant report

Variant	rs2277612
Chromosome Location	chr17:45727558-45727559
allele	C/T
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	chr17:45726211-45728657	HUVEC	blood vessel:	n/a	n/a
2	HDAC2	chr17:45726474-45727589	MCF-7	breast:	n/a	n/a
3	RELA	chr17:45726279-45728208	GM19099	blood:	n/a	n/a
4	POLR2A	chr17:45726127-45728380	HL-60	blood:	n/a	n/a
5	E2F6	chr17:45726352-45727626	H1-hESC	embryonic stem cell:	n/a	chr17:45726715-45726723 chr17:45727206-45727215 chr17:45726860-45726872 chr17:45726670-45726685 chr17:45727293-45727302 chr17:45726714-45726724 chr17:45726715-45726723 chr17:45727590-45727600 chr17:45727384-45727393 chr17:45726934-45726943 chr17:45726715-45726723 chr17:45727140-45727155
6	POLR2A	chr17:45726309-45728382	GM15510	blood:	n/a	n/a
7	GABPA	chr17:45726425-45727614	MCF-7	breast:	n/a	n/a
8	PAX5	chr17:45727499-45727889	GM12892	blood:	n/a	n/a
9	REST	chr17:45727021-45727902	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr17:45726149-45728459	K562	blood:	n/a	n/a
11	POLR2A	chr17:45727517-45727911	Hela-S3	cervix:	n/a	n/a
12	MAZ	chr17:45726514-45728676	GM12878	blood:	n/a	chr17:45728146-45728156 chr17:45728516-45728525
13	POLR2A	chr17:45726068-45728890	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr17:45726435-45728849	IMR90	lung:	n/a	n/a
15	RFX5	chr17:45725934-45729843	SK-N-SH	brain:	n/a	chr17:45726842-45726851 chr17:45726840-45726856
16	POLR2A	chr17:45726127-45728751	K562	blood:	n/a	n/a
17	CHD2	chr17:45726396-45728758	K562	blood:	n/a	chr17:45726851-45726861
18	MYC	chr17:45726406-45728356	Hela-S3	cervix:	n/a	chr17:45728146-45728156
19	POLR2A	chr17:45726131-45728382	GM18526	blood:	n/a	n/a
20	CHD2	chr17:45726284-45728450	GM12878	blood:	n/a	chr17:45726851-45726861
21	E2F4	chr17:45726315-45728296	K562	blood:	n/a	chr17:45726715-45726723 chr17:45727206-45727215 chr17:45726860-45726872 chr17:45728024-45728034 chr17:45726670-45726685 chr17:45727293-45727302 chr17:45726714-45726724 chr17:45728148-45728160 chr17:45726715-45726723 chr17:45727590-45727600 chr17:45728148-45728157 chr17:45727384-45727393 chr17:45726934-45726943 chr17:45726715-45726723 chr17:45727867-45727879 chr17:45727140-45727155
22	IRF1	chr17:45726142-45729396	K562	blood:	n/a	chr17:45726934-45726943 chr17:45729362-45729376 chr17:45729366-45729376 chr17:45729365-45729376 chr17:45729366-45729380 chr17:45726787-45726801 chr17:45726149-45726159
23	POLR2A	chr17:45726142-45728429	MCF10A-Er-Src	breast:	n/a	n/a
24	CHD2	chr17:45726490-45728750	Hela-S3	cervix:	n/a	chr17:45726851-45726861
25	POLR2A	chr17:45726410-45727915	A549	lung:	n/a	n/a
26	POLR2A	chr17:45725674-45729177	PFSK-1	brain:	n/a	n/a
27	CEBPD	chr17:45726258-45727593	K562	blood:	n/a	n/a
28	TAF1	chr17:45726292-45727914	A549	lung:	n/a	n/a
29	MAX	chr17:45726125-45728927	HCT-116	colon:	n/a	chr17:45728146-45728156 chr17:45728516-45728525
30	MAZ	chr17:45726513-45728384	HepG2	liver:	n/a	chr17:45728146-45728156
31	MAX	chr17:45726112-45728567	HepG2	liver:	n/a	chr17:45728146-45728156 chr17:45728516-45728525
32	YY1	chr17:45727060-45727593	H1-hESC	embryonic stem cell:	n/a	chr17:45727384-45727393 chr17:45727381-45727392
33	TAF1	chr17:45726229-45727916	SK-N-SH	brain:	n/a	n/a
34	CHD1	chr17:45727225-45727801	H1-hESC	embryonic stem cell:	n/a	n/a
35	ZBTB7A	chr17:45727172-45727902	K562	blood:	n/a	n/a
36	MXI1	chr17:45726195-45728398	HepG2	liver:	n/a	n/a
37	SP1	chr17:45726072-45728590	HCT-116	colon:	n/a	chr17:45727689-45727703 chr17:45728149-45728158 chr17:45727693-45727702 chr17:45726696-45726708 chr17:45727376-45727388 chr17:45726854-45726868 chr17:45726698-45726707 chr17:45728148-45728157 chr17:45727993-45728002 chr17:45726696-45726708 chr17:45728148-45728158 chr17:45728147-45728159 chr17:45728144-45728158 chr17:45727376-45727388 chr17:45726789-45726800 chr17:45727992-45728003 chr17:45727021-45727042 chr17:45728147-45728159 chr17:45726790-45726804
38	TAF1	chr17:45726702-45727617	H1-neurons	neurons:	n/a	n/a
39	HEY1	chr17:45727527-45727897	K562	blood:	n/a	n/a
40	POLR2A	chr17:45726259-45727903	H1-hESC	embryonic stem cell:	n/a	n/a
41	SIN3A	chr17:45726092-45728890	H1-hESC	embryonic stem cell:	n/a	chr17:45726984-45726995 chr17:45727386-45727399
42	POLR2A	chr17:45726399-45729447	MCF10A-Er-Src	breast:	n/a	n/a
43	YY1	chr17:45727515-45728377	GM12892	blood:	n/a	chr17:45727592-45727601 chr17:45728149-45728160 chr17:45728190-45728204 chr17:45727589-45727600 chr17:45727589-45727598 chr17:45727584-45727598 chr17:45727693-45727704 chr17:45728148-45728157
44	SP1	chr17:45726176-45728782	A549	lung:	n/a	chr17:45727689-45727703 chr17:45728149-45728158 chr17:45727693-45727702 chr17:45726696-45726708 chr17:45727376-45727388 chr17:45726854-45726868 chr17:45726698-45726707 chr17:45728148-45728157 chr17:45727993-45728002 chr17:45726696-45726708 chr17:45728148-45728158 chr17:45728147-45728159 chr17:45728144-45728158 chr17:45727376-45727388 chr17:45726789-45726800 chr17:45727992-45728003 chr17:45727021-45727042 chr17:45728147-45728159 chr17:45726790-45726804
45	POLR2A	chr17:45726371-45728133	Gliobla	brain:	n/a	n/a
46	YY1	chr17:45726472-45728306	HepG2	liver:	n/a	chr17:45727592-45727601 chr17:45728149-45728160 chr17:45728190-45728204 chr17:45727589-45727600 chr17:45727384-45727393 chr17:45727589-45727598 chr17:45726696-45726707 chr17:45727584-45727598 chr17:45727693-45727704 chr17:45727381-45727392 chr17:45728148-45728157
47	SIN3AK20	chr17:45726355-45728403	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr17:45726124-45728250	GM12878	blood:	n/a	n/a
49	SIN3AK20	chr17:45727543-45728953	A549	lung:	n/a	n/a
50	SIX5	chr17:45725943-45727585	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:45725427..45729938-chr17:45759883..45763405,4	K562	blood:
2	chr12:49658462..49659340-chr17:45727327..45727843,2	HCT-116	colon:
3	chr17:45726968..45727634-chr2:128145066..128146033,2	HCT-116	colon:
4	chr17:45725747..45727611-chr17:45884252..45887189,2	MCF-7	breast:
5	chr17:45725675..45729413-chr17:45768882..45774493,5	K562	blood:
6	chr17:45727256..45728937-chr17:46047807..46049675,2	K562	blood:
7	chr17:45727006..45727831-chr9:6757854..6758764,2	HCT-116	colon:
8	chr17:45694580..45697420-chr17:45726459..45728756,2	K562	blood:
9	chr17:45727061..45727672-chr19:32896650..32897193,2	Hela-S3	cervix:
10	chr17:45726598..45732836-chr17:45743871..45749720,11	K562	blood:
11	chr1:150293804..150295488-chr17:45727043..45729157,2	MCF-7	breast:
12	chr17:45726797..45728320-chr17:45906993..45909884,2	MCF-7	breast:
13	chr17:45725833..45728916-chr17:45770004..45772680,3	MCF-7	breast:
14	chr17:45724693..45730044-chr17:45766323..45778247,15	K562	blood:
15	chr1:28832502..28833142-chr17:45726747..45727691,2	Hela-S3	cervix:

Variant related genes	Relation type
KPNB1	TF binding region
ENSG00000263766	TF binding region
ENSG00000117360	Chromatin interaction
ENSG00000180198	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000242125	Chromatin interaction
ENSG00000108424	Chromatin interaction
ENSG00000141279	Chromatin interaction
ENSG00000006025	Chromatin interaction
ENSG00000141294	Chromatin interaction
ENSG00000264558	Chromatin interaction
ENSG00000108465	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000198933	Chromatin interaction
ENSG00000159111	Chromatin interaction
ENSG00000107077	Chromatin interaction
ENSG00000169967	Chromatin interaction
ENSG00000178904	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12450731	0.94[MKK][hapmap]
rs2317818	0.94[MKK][hapmap]
rs34894439	0.94[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats 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 miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv525267	chr17:45451894-45735706	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv1811231	chr17:45520374-45764956	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv1813964	chr17:45520374-45764956	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv2758458	chr17:45520374-45764956	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv2758693	chr17:45520374-45764956	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv428344	chr17:45520374-45764956	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	esv3385479	chr17:45726703-45729151	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 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	chr17:45725600-45728200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr17:45725600-45728400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr17:45725600-45728400	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr17:45725600-45728400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr17:45725600-45728600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr17:45725800-45728200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr17:45725800-45728200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr17:45725800-45728400	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr17:45725800-45728600	Active TSS	H1 Cell Line	embryonic stem cell
10	chr17:45725800-45728600	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr17:45725800-45728600	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr17:45725800-45728600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:45725800-45728800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr17:45725800-45729200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr17:45726000-45728600	Active TSS	Psoas Muscle	Psoas
16	chr17:45726000-45728800	Active TSS	Right Ventricle	heart
17	chr17:45726200-45728000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr17:45726200-45728400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr17:45726200-45728400	Active TSS	Lung	lung
20	chr17:45726200-45728400	Active TSS	Ovary	ovary
21	chr17:45726200-45728600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:45726200-45728600	Active TSS	Aorta	Aorta
23	chr17:45726200-45728600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr17:45726200-45728600	Active TSS	Gastric	stomach
25	chr17:45726200-45728600	Active TSS	Small Intestine	intestine
26	chr17:45726200-45728800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:45726200-45728800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr17:45726200-45728800	Active TSS	Placenta Amnion	Placenta Amnion
29	chr17:45726400-45728200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr17:45726400-45728200	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr17:45726400-45728200	Active TSS	A549	lung
32	chr17:45726400-45728400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr17:45726400-45728400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr17:45726400-45728400	Active TSS	Colon Smooth Muscle	Colon
35	chr17:45726400-45728400	Active TSS	Rectal Smooth Muscle	rectum
36	chr17:45726400-45728400	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr17:45726400-45728400	Active TSS	Stomach Mucosa	stomach
38	chr17:45726400-45728600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr17:45726400-45728600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr17:45726400-45728800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr17:45726400-45728800	Active TSS	Esophagus	oesophagus
42	chr17:45726400-45728800	Active TSS	Left Ventricle	heart
43	chr17:45726600-45727800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
44	chr17:45726600-45728000	Active TSS	Primary T cells fromperipheralblood	blood
45	chr17:45726600-45728200	Active TSS	Primary T cells from cord blood	blood
46	chr17:45726600-45728200	Active TSS	Primary hematopoietic stem cells	blood
47	chr17:45726600-45728200	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr17:45726600-45728200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr17:45726600-45728200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr17:45726600-45728200	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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