Variant report

Variant	rs2272168
Chromosome Location	chr7:99102777-99102778
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	CEBPD	chr7:99102143-99103144	K562	blood:	n/a	n/a
2	EP300	chr7:99102723-99103134	GM12878	blood:	n/a	chr7:99102887-99102894 chr7:99102735-99102744
3	SRF	chr7:99102719-99102950	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:99101903-99103211	K562	blood:	n/a	n/a
5	MYC	chr7:99102711-99102930	HepG2	liver:	n/a	n/a
6	GABPA	chr7:99102411-99103054	HepG2	liver:	n/a	chr7:99102564-99102573
7	TCF7L2	chr7:99101737-99103061	HCT-116	colon:	n/a	chr7:99102099-99102108 chr7:99102100-99102107 chr7:99102095-99102109
8	SP4	chr7:99102144-99102905	H1-hESC	embryonic stem cell:	n/a	chr7:99102560-99102576 chr7:99102562-99102578
9	SPI1	chr7:99102669-99102991	GM12878	blood:	n/a	n/a
10	GABPA	chr7:99101963-99103240	HL-60	blood:	n/a	chr7:99102564-99102573
11	POU2F2	chr7:99102754-99103014	GM12878	blood:	n/a	n/a
12	NR2C2	chr7:99102689-99103041	Hela-S3	cervix:	n/a	n/a
13	ARID3A	chr7:99102703-99102936	K562	blood:	n/a	n/a
14	YY1	chr7:99102658-99103086	A549	lung:	n/a	n/a
15	SIN3AK20	chr7:99102705-99103022	PANC-1	pancreas:	n/a	n/a
16	CHD2	chr7:99102019-99103018	HepG2	liver:	n/a	n/a
17	NR2F2	chr7:99102223-99103257	MCF-7	breast:	n/a	n/a
18	CUX1	chr7:99102757-99102893	K562	blood:	n/a	n/a
19	MAZ	chr7:99101982-99103037	Hela-S3	cervix:	n/a	chr7:99102113-99102123
20	ELF1	chr7:99102103-99103045	HepG2	liver:	n/a	chr7:99102811-99102822 chr7:99102812-99102821 chr7:99102166-99102178
21	STAT3	chr7:99102273-99102837	MCF10A-Er-Src	breast:	n/a	chr7:99102273-99102284 chr7:99102275-99102284 chr7:99102629-99102641 chr7:99102571-99102583 chr7:99102274-99102283 chr7:99102275-99102283
22	STAT5A	chr7:99101800-99103248	GM12878	blood:	n/a	chr7:99102275-99102284 chr7:99102629-99102641 chr7:99102571-99102583 chr7:99102260-99102283 chr7:99102828-99102840 chr7:99102269-99102289 chr7:99102274-99102283 chr7:99102275-99102283
23	TAF1	chr7:99102612-99103090	GM12892	blood:	n/a	n/a
24	POLR2A	chr7:99101920-99103045	HUVEC	blood vessel:	n/a	n/a
25	EP300	chr7:99102112-99103173	K562	blood:	n/a	chr7:99102887-99102894 chr7:99102735-99102744
26	GABPA	chr7:99102534-99103089	Hela-S3	cervix:	n/a	chr7:99102564-99102573
27	CREB1	chr7:99102040-99103032	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr7:99101910-99103134	GM18505	blood:	n/a	n/a
29	SIN3AK20	chr7:99102162-99103017	H1-hESC	embryonic stem cell:	n/a	n/a
30	E2F6	chr7:99101997-99102982	K562	blood:	n/a	chr7:99102415-99102426 chr7:99102564-99102573 chr7:99102523-99102532
31	RELA	chr7:99101943-99103199	GM18505	blood:	n/a	n/a
32	FOXP2	chr7:99102679-99103054	SK-N-MC	brain:	n/a	n/a
33	MAX	chr7:99101865-99103147	K562	blood:	n/a	chr7:99102113-99102123
34	REST	chr7:99102690-99103113	HepG2	liver:	n/a	n/a
35	GABPA	chr7:99102463-99103208	K562	blood:	n/a	chr7:99102564-99102573
36	POLR2A	chr7:99102009-99103298	PBDE	blood:	n/a	n/a
37	GABPA	chr7:99102569-99103050	H1-hESC	embryonic stem cell:	n/a	n/a
38	ELF1	chr7:99101858-99103128	SK-N-SH	brain:	n/a	chr7:99102811-99102822 chr7:99102812-99102821 chr7:99102166-99102178
39	ARID3A	chr7:99102318-99102916	HepG2	liver:	n/a	n/a
40	MAX	chr7:99102033-99103053	GM12878	blood:	n/a	chr7:99102113-99102123
41	POLR2A	chr7:99102014-99103108	GM10847	blood:	n/a	n/a
42	POLR2A	chr7:99101977-99103128	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr7:99101949-99103175	HCT-116	colon:	n/a	n/a
44	SP1	chr7:99101884-99103329	HCT-116	colon:	n/a	chr7:99103013-99103022 chr7:99102563-99102573 chr7:99102749-99102770 chr7:99102828-99102837 chr7:99102564-99102573 chr7:99102216-99102237 chr7:99102563-99102573 chr7:99103015-99103029 chr7:99103012-99103024 chr7:99102493-99102507 chr7:99102587-99102601 chr7:99102497-99102507 chr7:99102111-99102125 chr7:99102563-99102572 chr7:99103012-99103024 chr7:99102497-99102506 chr7:99102575-99102584 chr7:99102576-99102585 chr7:99102563-99102577 chr7:99102562-99102574 chr7:99102563-99102572 chr7:99102522-99102543 chr7:99102575-99102584 chr7:99102562-99102574 chr7:99102828-99102842
45	SP2	chr7:99102380-99103038	K562	blood:	n/a	chr7:99102524-99102534 chr7:99102586-99102601 chr7:99102562-99102577
46	ZC3H11A	chr7:99102694-99102965	K562	blood:	n/a	n/a
47	TCF12	chr7:99101787-99103267	A549	lung:	n/a	chr7:99102284-99102291
48	TAF1	chr7:99102542-99103093	GM12891	blood:	n/a	n/a
49	PBX3	chr7:99101894-99103321	SK-N-SH	brain:	n/a	chr7:99103038-99103058 chr7:99102226-99102235 chr7:99102524-99102533
50	MYBL2	chr7:99101937-99103125	HepG2	liver:	n/a	chr7:99102843-99102853

No.	Distal block	Cell Line	Cell type
1	chr6:70506003..70506956-chr7:99102509..99103014,2	Hela-S3	cervix:
2	chr7:99102673..99104536-chr7:99527023..99529277,2	K562	blood:
3	chr7:99038361..99041126-chr7:99102588..99104976,2	K562	blood:
4	chr7:99100982..99104119-chr7:99213088..99215201,3	K562	blood:
5	chr7:99102360..99104532-chr7:99213468..99216183,2	MCF-7	breast:
6	chr7:99101000..99104995-chr7:99153806..99158171,7	K562	blood:
7	chr7:99055033..99067556-chr7:99095016..99105645,21	K562	blood:
8	chr5:177631102..177631899-chr7:99102632..99103132,2	Hela-S3	cervix:
9	chr7:99101316..99104105-chr7:99146810..99149778,3	MCF-7	breast:
10	chr7:99096043..99099398-chr7:99100534..99104285,13	MCF-7	breast:
11	chr7:99069546..99072504-chr7:99101462..99103609,2	MCF-7	breast:
12	chr7:99005276..99007163-chr7:99100557..99104017,3	K562	blood:
13	chr7:99068815..99072356-chr7:99100086..99103806,3	MCF-7	breast:
14	chr7:99101340..99103722-chr7:99148139..99149970,3	K562	blood:
15	chr7:99101331..99104822-chr7:99153806..99158131,11	K562	blood:
16	chr7:99101618..99103832-chr7:99727282..99728826,2	K562	blood:
17	chr1:155107680..155108415-chr7:99102514..99103388,2	Hela-S3	cervix:
18	chr7:99035600..99037470-chr7:99101229..99103802,2	K562	blood:
19	chr7:99102097..99103970-chr7:99147746..99149891,2	MCF-7	breast:
20	chr7:99102652..99106097-chr7:99213057..99215994,4	K562	blood:
21	chr7:99050772..99052911-chr7:99101324..99104173,2	K562	blood:
22	chr7:99062251..99065366-chr7:99100921..99104362,4	MCF-7	breast:
23	chr7:99062282..99063948-chr7:99101006..99103756,2	MCF-7	breast:

Variant related genes	Relation type
ZKSCAN5	TF binding region
ZNF394	TF binding region
ENSG00000241468	Chromatin interaction
ENSG00000106245	Chromatin interaction
ENSG00000197037	Chromatin interaction
ENSG00000272647	Chromatin interaction
ENSG00000176402	Chromatin interaction
ENSG00000160908	Chromatin interaction
ENSG00000168216	Chromatin interaction
ENSG00000197451	Chromatin interaction
ENSG00000228335	Chromatin interaction
ENSG00000214314	Chromatin interaction
ENSG00000169241	Chromatin interaction
ENSG00000160917	Chromatin interaction
ENSG00000248919	Chromatin interaction
ENSG00000198556	Chromatin interaction
ENSG00000197343	Chromatin interaction
ENSG00000221909	Chromatin interaction
ENSG00000235077	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000106244	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1011024	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10155966	0.92[CEU][hapmap];0.89[JPT][hapmap]
rs10225314	0.88[JPT][hapmap]
rs10238965	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10243678	0.92[CEU][hapmap];0.89[JPT][hapmap]
rs10244158	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10253937	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10254729	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10258757	0.92[CEU][hapmap];0.89[JPT][hapmap]
rs10270459	0.92[CEU][hapmap];0.89[JPT][hapmap]
rs10270917	0.92[CEU][hapmap];0.89[JPT][hapmap]
rs10271049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10271582	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10272998	0.92[CEU][hapmap]
rs10279308	0.84[CEU][hapmap]
rs1043466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11762273	0.92[CEU][hapmap];0.89[JPT][hapmap]
rs11772470	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs11976018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11978089	0.85[CEU][hapmap]
rs13227795	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13240600	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13437771	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1980307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2003499	0.84[CEU][hapmap]
rs2072181	0.92[CEU][hapmap];0.89[JPT][hapmap]
rs2240384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2240385	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs2280600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2280601	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2286162	0.92[CEU][hapmap]
rs2687086	0.84[JPT][hapmap]
rs28457808	0.83[ASN][1000 genomes]
rs3137	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34777615	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3779354	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3800960	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs3801288	0.92[CEU][hapmap]
rs3843540	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3901286	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs45540134	0.82[ASN][1000 genomes]
rs4646450	0.85[CEU][hapmap]
rs4729532	0.84[CEU][hapmap]
rs58222677	0.81[ASN][1000 genomes]
rs60301933	0.83[ASN][1000 genomes]
rs61159815	0.83[ASN][1000 genomes]
rs61402640	0.84[ASN][1000 genomes]
rs61543997	0.84[ASN][1000 genomes]
rs6943920	0.92[CEU][hapmap];0.84[JPT][hapmap]
rs6955490	0.84[CEU][hapmap]
rs6961634	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6962772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7794682	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7794705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7804551	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs868564	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs883403	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs917154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs940336	0.86[CHB][hapmap];0.89[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 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	chr7:99101400-99103800	Active TSS	Thymus	Thymus
2	chr7:99101600-99103200	Active TSS	Brain Hippocampus Middle	brain
3	chr7:99101600-99103200	Active TSS	Sigmoid Colon	Sigmoid Colon
4	chr7:99101600-99103400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:99101600-99103400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:99101600-99103400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:99101600-99103600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:99101800-99103000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr7:99101800-99103000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:99101800-99103000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:99101800-99103000	Active TSS	Brain Cingulate Gyrus	brain
12	chr7:99101800-99103000	Active TSS	Fetal Brain Female	brain
13	chr7:99101800-99103200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:99101800-99103200	Active TSS	Primary T cells from cord blood	blood
15	chr7:99101800-99103200	Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr7:99101800-99103200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr7:99101800-99103200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr7:99101800-99103200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:99101800-99103200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:99101800-99103200	Active TSS	Brain Anterior Caudate	brain
21	chr7:99101800-99103200	Active TSS	Brain Germinal Matrix	brain
22	chr7:99101800-99103200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:99101800-99103200	Active TSS	Brain Substantia Nigra	brain
24	chr7:99101800-99103200	Active TSS	Colon Smooth Muscle	Colon
25	chr7:99101800-99103200	Active TSS	Fetal Lung	lung
26	chr7:99101800-99103200	Active TSS	Placenta Amnion	Placenta Amnion
27	chr7:99101800-99103200	Active TSS	Hela-S3	cervix
28	chr7:99101800-99103200	Active TSS	HUVEC	blood vessel
29	chr7:99101800-99103200	Active TSS	NH-A	brain
30	chr7:99101800-99103200	Active TSS	NHEK	skin
31	chr7:99101800-99103200	Active TSS	Osteobl	bone
32	chr7:99101800-99103400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:99101800-99103400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:99101800-99103400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:99101800-99103400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:99101800-99103400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:99101800-99103400	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr7:99101800-99103400	Active TSS	Primary hematopoietic stem cells	blood
39	chr7:99101800-99103400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:99101800-99103400	Active TSS	Esophagus	oesophagus
41	chr7:99101800-99103400	Active TSS	Fetal Kidney	kidney
42	chr7:99101800-99103400	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr7:99101800-99103400	Active TSS	Lung	lung
44	chr7:99101800-99103400	Active TSS	Stomach Mucosa	stomach
45	chr7:99101800-99103400	Active TSS	A549	lung
46	chr7:99101800-99103400	Bivalent/Poised TSS	HepG2	liver
47	chr7:99101800-99103400	Active TSS	HSMM	muscle
48	chr7:99101800-99103400	Active TSS	HSMMtube	muscle
49	chr7:99101800-99103400	Active TSS	NHDF-Ad	bronchial
50	chr7:99101800-99103600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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