Variant report

Variant	rs73718215
Chromosome Location	chr7:104654393-104654394
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	SP1	chr7:104652777-104654571	H1-hESC	embryonic stem cell:	n/a	chr7:104653170-104653179 chr7:104653071-104653085 chr7:104653587-104653608 chr7:104653841-104653850 chr7:104653075-104653084 chr7:104654547-104654559 chr7:104653162-104653174 chr7:104653169-104653178 chr7:104654549-104654558 chr7:104653164-104653173
2	FOXP2	chr7:104654385-104654857	PFSK-1	brain:	n/a	n/a
3	YY1	chr7:104652692-104655023	K562	blood:	n/a	chr7:104654514-104654536 chr7:104654525-104654533 chr7:104653271-104653290 chr7:104654518-104654538 chr7:104653270-104653290 chr7:104654519-104654538 chr7:104653167-104653178 chr7:104653273-104653295 chr7:104654636-104654653 chr7:104653276-104653284
4	POLR2A	chr7:104652105-104656301	SK-N-MC	brain:	n/a	n/a
5	TAF1	chr7:104653752-104655024	HepG2	liver:	n/a	n/a
6	ATF2	chr7:104652685-104654596	H1-hESC	embryonic stem cell:	n/a	n/a
7	TEAD4	chr7:104652680-104655029	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr7:104652716-104655151	MCF-7	breast:	n/a	chr7:104652969-104652976 chr7:104652969-104652976 chr7:104652964-104652980 chr7:104652967-104652976 chr7:104652962-104652983 chr7:104653191-104653199 chr7:104652967-104652976 chr7:104652967-104652977 chr7:104652969-104652976
9	FOXA1	chr7:104654145-104654826	HepG2	liver:	n/a	n/a
10	RCOR1	chr7:104652480-104654830	GM12878	blood:	n/a	n/a
11	ZNF263	chr7:104653022-104654931	K562	blood:	n/a	n/a
12	YY1	chr7:104652800-104655183	GM12878	blood:	n/a	chr7:104654514-104654536 chr7:104654525-104654533 chr7:104653271-104653290 chr7:104654518-104654538 chr7:104653270-104653290 chr7:104654519-104654538 chr7:104653167-104653178 chr7:104653273-104653295 chr7:104654636-104654653 chr7:104653276-104653284
13	HDAC2	chr7:104654317-104654927	HepG2	liver:	n/a	n/a
14	BRCA1	chr7:104652891-104654532	GM12878	blood:	n/a	n/a
15	JUND	chr7:104652738-104655084	MCF-7	breast:	n/a	chr7:104654505-104654514 chr7:104653596-104653605
16	POLR2A	chr7:104652907-104654895	HepG2	liver:	n/a	n/a
17	POLR2A	chr7:104649871-104658724	K562	blood:	n/a	n/a
18	POLR2A	chr7:104652490-104655789	Hela-S3	cervix:	n/a	n/a
19	TEAD4	chr7:104652687-104655068	SK-N-SH	brain:	n/a	n/a
20	MAX	chr7:104654343-104654849	K562	blood:	n/a	n/a
21	NFIC	chr7:104652429-104654596	GM12878	blood:	n/a	chr7:104653181-104653198 chr7:104653182-104653198 chr7:104653180-104653208
22	FOXM1	chr7:104652093-104655039	GM12878	blood:	n/a	n/a
23	BCL3	chr7:104652736-104655005	K562	blood:	n/a	chr7:104653328-104653337 chr7:104653654-104653667 chr7:104653740-104653749 chr7:104653038-104653047 chr7:104653169-104653178
24	POLR2A	chr7:104651678-104656471	K562	blood:	n/a	n/a
25	SRF	chr7:104652766-104654825	MCF-7	breast:	n/a	chr7:104653816-104653833
26	PBX3	chr7:104652770-104654819	A549	lung:	n/a	chr7:104653601-104653621 chr7:104653597-104653606
27	MAZ	chr7:104652779-104654868	HepG2	liver:	n/a	n/a
28	SIX5	chr7:104654347-104654663	GM12878	blood:	n/a	n/a
29	CREB1	chr7:104652748-104654818	H1-hESC	embryonic stem cell:	n/a	n/a
30	TEAD4	chr7:104652432-104656297	K562	blood:	n/a	n/a
31	BRCA1	chr7:104653298-104654566	H1-hESC	embryonic stem cell:	n/a	n/a
32	SIN3AK20	chr7:104652647-104655043	PANC-1	pancreas:	n/a	n/a
33	TCF7L2	chr7:104652934-104654984	HCT-116	colon:	n/a	n/a
34	POLR2A	chr7:104652470-104656276	K562	blood:	n/a	n/a
35	TBP	chr7:104652725-104654903	HepG2	liver:	n/a	n/a
36	RCOR1	chr7:104652699-104654970	HepG2	liver:	n/a	n/a
37	REST	chr7:104653761-104654924	K562	blood:	n/a	n/a
38	POLR2A	chr7:104651692-104654951	HepG2	liver:	n/a	n/a
39	ELF1	chr7:104653831-104654970	K562	blood:	n/a	n/a
40	STAT5A	chr7:104652585-104654967	K562	blood:	n/a	chr7:104653683-104653703 chr7:104653165-104653177 chr7:104654544-104654556 chr7:104653837-104653849 chr7:104652775-104652782 chr7:104652661-104652673 chr7:104653618-104653630
41	POLR2A	chr7:104651748-104656064	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr7:104652465-104654575	GM12891	blood:	n/a	n/a
43	UBTF	chr7:104652228-104656365	K562	blood:	n/a	n/a
44	NR2F2	chr7:104652235-104654588	K562	blood:	n/a	n/a
45	STAT1	chr7:104652831-104654887	GM12878	blood:	n/a	chr7:104653683-104653703 chr7:104653165-104653177 chr7:104654544-104654556 chr7:104653837-104653849 chr7:104653618-104653630
46	MAX	chr7:104653838-104654920	H1-hESC	embryonic stem cell:	n/a	n/a
47	TAF7	chr7:104654313-104654942	K562	blood:	n/a	n/a
48	JUN	chr7:104652675-104654798	K562	blood:	n/a	chr7:104654505-104654514 chr7:104653596-104653605 chr7:104653542-104653555
49	RELA	chr7:104652779-104654841	GM18526	blood:	n/a	chr7:104653037-104653046 chr7:104653037-104653046
50	PML	chr7:104652315-104656342	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:104653054..104655993-chr7:105161169..105164095,3	MCF-7	breast:
2	chr7:104653566..104654557-chrX:100306996..100307666,2	NB4	blood:
3	chr4:100870962..100871769-chr7:104653717..104654595,2	HCT-116	colon:
4	chr22:39916515..39917077-chr7:104653996..104654633,2	NB4	blood:
5	chr7:104653228..104656123-chr7:104741244..104743296,2	K562	blood:
6	chr7:104653339..104655893-chr7:104716368..104718500,3	K562	blood:
7	chr7:104651636..104654670-chr7:104701757..104705518,5	MCF-7	breast:
8	chr6:123110291..123111124-chr7:104654311..104655061,2	Hela-S3	cervix:
9	chr15:69744775..69745455-chr7:104653710..104654633,2	NB4	blood:
10	chr7:100025223..100026949-chr7:104653159..104655060,2	MCF-7	breast:
11	chr7:104652511..104655176-chr7:105750918..105752991,2	MCF-7	breast:
12	chr1:11966976..11969869-chr7:104652461..104654660,2	K562	blood:
13	chr7:104653151..104655503-chr7:105160083..105164345,7	K562	blood:
14	chr5:44809018..44809947-chr7:104653537..104654568,3	Hela-S3	cervix:
15	chr14:74226432..74228146-chr7:104653280..104656044,2	MCF-7	breast:
16	chr7:104652744..104654842-chr7:105028526..105031470,2	MCF-7	breast:
17	chr7:104652687..104654984-chr7:104712550..104718501,6	MCF-7	breast:
18	chr17:56708298..56711136-chr7:104654170..104656051,2	MCF-7	breast:
19	chr1:16839394..16842098-chr7:104653560..104656076,2	K562	blood:
20	chr11:65625381..65626331-chr7:104653546..104654398,2	Hela-S3	cervix:
21	chr4:111542935..111544553-chr7:104653229..104655363,2	MCF-7	breast:
22	chr7:104650546..104656206-chr7:104695535..104706992,23	K562	blood:
23	chr7:104653314..104655530-chr7:104747419..104751659,3	K562	blood:
24	chr7:45026248..45026901-chr7:104653537..104654537,2	NB4	blood:
25	chr7:104561816..104567252-chr7:104650571..104656074,9	K562	blood:
26	chr3:170587447..170588267-chr7:104654123..104654957,2	Hela-S3	cervix:
27	chr2:135675666..135676544-chr7:104653507..104654447,2	HCT-116	colon:
28	chr7:104650837..104656019-chr7:105026206..105030997,7	K562	blood:
29	chr2:70520568..70521106-chr7:104653687..104654433,2	Hela-S3	cervix:
30	chr15:63795604..63796429-chr7:104653581..104654433,2	Hela-S3	cervix:
31	chr7:103848404..103850130-chr7:104653038..104655393,2	MCF-7	breast:
32	chr7:64254199..64254897-chr7:104654095..104654973,2	NB4	blood:
33	chr7:104652025..104655481-chr7:105171171..105174883,4	K562	blood:
34	chr7:104652893..104655901-chr7:105027705..105031319,8	MCF-7	breast:
35	chr7:104647926..104656528-chr7:104691112..104706949,31	K562	blood:
36	chr7:104651454..104654827-chr7:104768722..104773675,8	K562	blood:
37	chr1:156083485..156084196-chr7:104653679..104654579,2	NB4	blood:
38	chr7:104649592..104657753-chr7:104694428..104703365,16	MCF-7	breast:
39	chr7:102788448..102791390-chr7:104652074..104655160,3	K562	blood:
40	chr2:121009423..121010375-chr7:104653889..104654529,2	NB4	blood:
41	chr6:107435360..107437552-chr7:104652004..104654978,2	MCF-7	breast:
42	chr7:104563318..104568443-chr7:104653143..104655572,8	K562	blood:
43	chr7:104653196..104654993-chr7:106299437..106301348,2	K562	blood:
44	chr7:104650505..104654814-chr7:104745765..104750461,6	K562	blood:
45	chr7:104653522..104655991-chr7:105172010..105174113,2	MCF-7	breast:
46	chr17:74732945..74733641-chr7:104653623..104654460,2	Hela-S3	cervix:
47	chr7:104579927..104586214-chr7:104652770..104656015,9	MCF-7	breast:
48	chr19:39897363..39898316-chr7:104653578..104654414,2	Hela-S3	cervix:
49	chr7:104653452..104655290-chrX:44259878..44261518,2	MCF-7	breast:
50	chr7:104652163..104655836-chr7:104715707..104720216,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPK2-1	chr7:104654328-104654516	XLOC_006554
2	lnc-SRPK2-1	chr7:104654328-104654426	XLOC_006554
3	lnc-SRPK2-1	chr7:104654328-104654454	XLOC_006554
4	lnc-SRPK2-1	chr7:104653872-104654426	ENSG00000239569.1
5	lnc-SRPK2-1	chr7:104637584-104654636	NONHSAT122594
6	lnc-SRPK2-1	chr7:104650989-104654588	NONHSAT122596

Variant related genes	Relation type
KMT2E	TF binding region
LINC01004	TF binding region
ENSG00000178096	Chromatin interaction
ENSG00000135249	Chromatin interaction
ENSG00000113460	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000082258	Chromatin interaction
ENSG00000128272	Chromatin interaction
ENSG00000004866	Chromatin interaction
ENSG00000164032	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000163584	Chromatin interaction
ENSG00000272918	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000225329	Chromatin interaction
ENSG00000224043	Chromatin interaction
ENSG00000169189	Chromatin interaction
ENSG00000108395	Chromatin interaction
ENSG00000164093	Chromatin interaction
ENSG00000261135	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000177820	Chromatin interaction
ENSG00000140374	Chromatin interaction
ENSG00000128016	Chromatin interaction
ENSG00000197697	Chromatin interaction
ENSG00000206652	Chromatin interaction
ENSG00000237513	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000214188	Chromatin interaction
ENSG00000188917	Chromatin interaction
ENSG00000091127	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000178409	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000200702	Chromatin interaction
ENSG00000138386	Chromatin interaction
ENSG00000161048	Chromatin interaction
ENSG00000137818	Chromatin interaction
ENSG00000169251	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000143977	Chromatin interaction
ENSG00000112996	Chromatin interaction
ENSG00000144118	Chromatin interaction
ENSG00000113456	Chromatin interaction
ENSG00000008282	Chromatin interaction
ENSG00000245322	Chromatin interaction
ENSG00000161547	Chromatin interaction
ENSG00000156030	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000224738	Chromatin interaction
ENSG00000232956	Chromatin interaction
ENSG00000092931	Chromatin interaction
ENSG00000105879	Chromatin interaction
ENSG00000172594	Chromatin interaction
ENSG00000247626	Chromatin interaction
ENSG00000135250	Chromatin interaction
ENSG00000197008	Chromatin interaction
ENSG00000241764	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000164815	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs55638165	1.00[AMR][1000 genomes]
rs55715849	1.00[AMR][1000 genomes]
rs56162214	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56361562	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56890093	1.00[AMR][1000 genomes]
rs56966676	1.00[AMR][1000 genomes]
rs57051326	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57160311	1.00[AMR][1000 genomes]
rs57402653	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58404848	1.00[AMR][1000 genomes]
rs60436179	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61102011	1.00[AMR][1000 genomes]
rs61280887	1.00[AMR][1000 genomes]
rs61285225	1.00[AMR][1000 genomes]
rs73421710	1.00[AMR][1000 genomes]
rs73715406	1.00[AMR][1000 genomes]
rs73715440	1.00[AMR][1000 genomes]
rs73715442	1.00[AMR][1000 genomes]
rs73715443	1.00[AMR][1000 genomes]
rs73715444	1.00[AMR][1000 genomes]
rs73715445	1.00[AMR][1000 genomes]
rs73715447	1.00[AMR][1000 genomes]
rs73715450	1.00[AMR][1000 genomes]
rs73716461	1.00[AMR][1000 genomes]
rs73716462	1.00[AMR][1000 genomes]
rs73716469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73716471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717956	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717964	1.00[AMR][1000 genomes]
rs73718216	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases
2	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 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	chr7:104648600-104658800	Active TSS	Ovary	ovary
2	chr7:104649000-104657400	Active TSS	Colonic Mucosa	Colon
3	chr7:104649200-104659000	Active TSS	Right Ventricle	heart
4	chr7:104649400-104656800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr7:104649400-104658800	Active TSS	Aorta	Aorta
6	chr7:104649400-104659400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr7:104649600-104657000	Active TSS	Colon Smooth Muscle	Colon
8	chr7:104649600-104658600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:104649600-104658800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:104649600-104659600	Active TSS	NHLF	lung
11	chr7:104649800-104656400	Active TSS	Sigmoid Colon	Sigmoid Colon
12	chr7:104649800-104657000	Active TSS	NHEK	skin
13	chr7:104649800-104657600	Active TSS	Fetal Stomach	stomach
14	chr7:104649800-104657600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr7:104649800-104658200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:104649800-104658600	Active TSS	Left Ventricle	heart
17	chr7:104650000-104657200	Active TSS	Fetal Intestine Large	intestine
18	chr7:104650000-104658000	Active TSS	Duodenum Mucosa	Duodenum
19	chr7:104650000-104658600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:104650000-104658600	Active TSS	Psoas Muscle	Psoas
21	chr7:104650200-104654800	Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr7:104650200-104656200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:104650200-104658000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:104650400-104657400	Active TSS	Fetal Intestine Small	intestine
25	chr7:104650400-104657800	Active TSS	H1 Cell Line	embryonic stem cell
26	chr7:104650600-104655000	Active TSS	Fetal Brain Female	brain
27	chr7:104650600-104656400	Active TSS	H9 Cell Line	embryonic stem cell
28	chr7:104650600-104656600	Active TSS	Fetal Muscle Trunk	muscle
29	chr7:104650600-104658800	Active TSS	Primary T cells fromperipheralblood	blood
30	chr7:104650800-104656400	Active TSS	Placenta	Placenta
31	chr7:104650800-104656600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr7:104650800-104657000	Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr7:104650800-104657600	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr7:104650800-104660800	Active TSS	GM12878-XiMat	blood
35	chr7:104651000-104656200	Active TSS	Lung	lung
36	chr7:104651000-104656400	Active TSS	Esophagus	oesophagus
37	chr7:104651000-104656600	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr7:104651000-104656600	Active TSS	Placenta Amnion	Placenta Amnion
39	chr7:104651000-104657200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr7:104651000-104657200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:104651000-104657400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:104651000-104657400	Active TSS	Thymus	Thymus
43	chr7:104651000-104657600	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr7:104651000-104658000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:104651000-104658200	Active TSS	HSMMtube	muscle
46	chr7:104651000-104658400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr7:104651000-104660000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:104651200-104654800	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr7:104651200-104656400	Active TSS	HUVEC	blood vessel
50	chr7:104651200-104656600	Active TSS	iPS-15b Cell Line	embryonic stem cell

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