Variant report

Variant	rs6950894
Chromosome Location	chr7:104652671-104652672
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	POLR2A	chr7:104652105-104656301	SK-N-MC	brain:	n/a	n/a
2	POU2F2	chr7:104652279-104652697	GM12891	blood:	n/a	n/a
3	RCOR1	chr7:104652480-104654830	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:104649871-104658724	K562	blood:	n/a	n/a
5	BCLAF1	chr7:104652554-104653428	K562	blood:	n/a	chr7:104653328-104653337 chr7:104653038-104653047 chr7:104653169-104653178
6	POLR2A	chr7:104652490-104655789	Hela-S3	cervix:	n/a	n/a
7	NFIC	chr7:104652429-104654596	GM12878	blood:	n/a	chr7:104653181-104653198 chr7:104653182-104653198 chr7:104653180-104653208
8	FOXM1	chr7:104652093-104655039	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:104651678-104656471	K562	blood:	n/a	n/a
10	TEAD4	chr7:104652432-104656297	K562	blood:	n/a	n/a
11	SIN3AK20	chr7:104652647-104655043	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr7:104652470-104656276	K562	blood:	n/a	n/a
13	POLR2A	chr7:104651692-104654951	HepG2	liver:	n/a	n/a
14	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
15	POLR2A	chr7:104651748-104656064	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr7:104652465-104654575	GM12891	blood:	n/a	n/a
17	UBTF	chr7:104652228-104656365	K562	blood:	n/a	n/a
18	NR2F2	chr7:104652235-104654588	K562	blood:	n/a	n/a
19	FOXA1	chr7:104652670-104653775	HepG2	liver:	n/a	n/a
20	PML	chr7:104652315-104656342	K562	blood:	n/a	n/a
21	POLR2A	chr7:104652224-104655080	U87	brain:	n/a	n/a
22	RCOR1	chr7:104652603-104655710	K562	blood:	n/a	n/a
23	POLR2A	chr7:104652386-104654481	A549	lung:	n/a	n/a
24	PML	chr7:104651615-104656402	GM12878	blood:	n/a	n/a
25	CREB1	chr7:104652565-104655303	K562	blood:	n/a	n/a
26	POLR2A	chr7:104652530-104654953	SK-N-MC	brain:	n/a	n/a
27	POLR2A	chr7:104651574-104656388	PBDE	blood:	n/a	n/a
28	MXI1	chr7:104651669-104656716	GM12878	blood:	n/a	n/a
29	FOXM1	chr7:104652419-104654961	GM12878	blood:	n/a	n/a
30	CHD2	chr7:104652397-104655734	Hela-S3	cervix:	n/a	n/a
31	TEAD4	chr7:104652582-104657299	K562	blood:	n/a	n/a
32	MAX	chr7:104652655-104655438	HepG2	liver:	n/a	chr7:104654996-104655005
33	POLR2A	chr7:104650139-104656413	GM12878	blood:	n/a	n/a
34	ELK1	chr7:104652627-104653383	GM12878	blood:	n/a	n/a
35	POLR2A	chr7:104652564-104654995	PFSK-1	brain:	n/a	n/a
36	RCOR1	chr7:104652278-104654837	Hela-S3	cervix:	n/a	n/a
37	REST	chr7:104652563-104655683	HL-60	blood:	n/a	chr7:104655344-104655354 chr7:104653526-104653539
38	POLR2A	chr7:104652316-104655819	K562	blood:	n/a	n/a
39	JUND	chr7:104650542-104656365	SK-N-SH	brain:	n/a	chr7:104654505-104654514 chr7:104653596-104653605
40	POLR2A	chr7:104651474-104654932	U87	brain:	n/a	n/a
41	TCF12	chr7:104652171-104656132	A549	lung:	n/a	n/a
42	CCNT2	chr7:104652467-104656501	K562	blood:	n/a	chr7:104653164-104653173 chr7:104654549-104654558 chr7:104653075-104653084 chr7:104655023-104655032
43	BCLAF1	chr7:104652602-104654972	GM12878	blood:	n/a	chr7:104653328-104653337 chr7:104653654-104653667 chr7:104653740-104653749 chr7:104653038-104653047 chr7:104653169-104653178
44	HEY1	chr7:104652569-104654980	HepG2	liver:	n/a	chr7:104653169-104653184
45	REST	chr7:104652414-104658680	H1-neurons	neurons:	n/a	chr7:104655971-104655980 chr7:104655344-104655354 chr7:104653526-104653539
46	SP1	chr7:104652651-104654815	A549	lung:	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
47	TBP	chr7:104652641-104654886	GM12878	blood:	n/a	n/a
48	MAFF	chr7:104652612-104654516	K562	blood:	n/a	n/a
49	ZNF143	chr7:104652567-104656152	K562	blood:	n/a	chr7:104653632-104653650
50	POLR2A	chr7:104652301-104652717	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:104651636..104654670-chr7:104701757..104705518,5	MCF-7	breast:
2	chr7:104651171..104652970-chr7:106300885..106303742,2	K562	blood:
3	chr7:104652511..104655176-chr7:105750918..105752991,2	MCF-7	breast:
4	chr1:11966976..11969869-chr7:104652461..104654660,2	K562	blood:
5	chr15:72476582..72478189-chr7:104650247..104653086,2	MCF-7	breast:
6	chr7:104650546..104656206-chr7:104695535..104706992,23	K562	blood:
7	chr7:104561816..104567252-chr7:104650571..104656074,9	K562	blood:
8	chr7:104651286..104653316-chr7:105078292..105081055,3	MCF-7	breast:
9	chr7:104650837..104656019-chr7:105026206..105030997,7	K562	blood:
10	chr7:104650731..104653213-chr7:104739890..104742351,2	K562	blood:
11	chr7:104652025..104655481-chr7:105171171..105174883,4	K562	blood:
12	chr7:104647926..104656528-chr7:104691112..104706949,31	K562	blood:
13	chr6:2999897..3000594-chr7:104652466..104653459,2	Hela-S3	cervix:
14	chr11:63448679..63449423-chr7:104652582..104653253,2	Hela-S3	cervix:
15	chr7:104651454..104654827-chr7:104768722..104773675,8	K562	blood:
16	chr7:104649592..104657753-chr7:104694428..104703365,16	MCF-7	breast:
17	chr7:104649601..104653676-chr7:105029497..105032094,4	K562	blood:
18	chr7:102788448..102791390-chr7:104652074..104655160,3	K562	blood:
19	chr6:107435360..107437552-chr7:104652004..104654978,2	MCF-7	breast:
20	chr7:104650505..104654814-chr7:104745765..104750461,6	K562	blood:
21	chr7:104652163..104655836-chr7:104715707..104720216,5	MCF-7	breast:
22	chr11:65269920..65271716-chr7:104650718..104653065,2	K562	blood:
23	chr19:55897240..55898959-chr7:104651761..104654641,2	K562	blood:
24	chr17:57182840..57186540-chr7:104651703..104654637,4	MCF-7	breast:
25	chr17:57918374..57921401-chr7:104652303..104655908,3	MCF-7	breast:
26	chr2:28613353..28614237-chr7:104652594..104653285,2	Hela-S3	cervix:
27	chr7:104652025..104655487-chr7:105171171..105176319,6	K562	blood:
28	chr7:104648889..104654837-chr7:104768923..104775807,9	K562	blood:
29	chr7:104652163..104655972-chr7:105160292..105163807,4	MCF-7	breast:
30	chr7:104651368..104653205-chr7:105026206..105027848,2	K562	blood:
31	chr7:104652193..104654468-chr7:107384467..107386088,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPK2-1	chr7:104652640-104652888	NONHSAT122593
2	lnc-SRPK2-1	chr7:104637584-104654636	NONHSAT122594
3	lnc-SRPK2-1	chr7:104650989-104653494	NONHSAT122595
4	lnc-SRPK2-1	chr7:104650989-104654588	NONHSAT122596

Variant related genes	Relation type
KMT2E	TF binding region
ENSG00000133318	Chromatin interaction
ENSG00000224738	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000135250	Chromatin interaction
ENSG00000108395	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000008282	Chromatin interaction
ENSG00000241764	Chromatin interaction
ENSG00000177820	Chromatin interaction
ENSG00000178409	Chromatin interaction
ENSG00000105879	Chromatin interaction
ENSG00000272918	Chromatin interaction
ENSG00000135249	Chromatin interaction
ENSG00000124588	Chromatin interaction
ENSG00000161048	Chromatin interaction
ENSG00000253276	Chromatin interaction
ENSG00000091127	Chromatin interaction
ENSG00000225329	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1010340	0.81[CEU][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap]
rs1011468	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10228174	0.90[EUR][1000 genomes]
rs10247691	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10252714	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10263499	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1029596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11978288	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12534212	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705296	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1558048	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs17640472	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17640508	0.87[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.82[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap]
rs2074753	0.84[CEU][hapmap];0.86[YRI][hapmap]
rs2097942	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.90[EUR][1000 genomes]
rs2106500	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2299298	0.88[EUR][1000 genomes]
rs2299305	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap]
rs2299309	0.84[CEU][hapmap]
rs4602821	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4727618	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730066	0.90[CHD][hapmap];0.93[ASN][1000 genomes]
rs56016333	0.86[ASN][1000 genomes]
rs6466035	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67665940	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6947388	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949073	0.84[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap]
rs6963395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[EUR][1000 genomes]
rs6972563	0.87[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.86[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap]
rs6974874	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap]
rs6976394	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980244	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7784126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[EUR][1000 genomes]
rs7794285	0.92[CEU][hapmap]
rs7796945	0.81[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap]
rs888086	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9918494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv2829879	chr7:104618318-104652671	Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	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	chr7:104649000-104652800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:104649000-104657400	Active TSS	Colonic Mucosa	Colon
4	chr7:104649200-104653000	Active TSS	Right Atrium	heart
5	chr7:104649200-104659000	Active TSS	Right Ventricle	heart
6	chr7:104649400-104656800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr7:104649400-104658800	Active TSS	Aorta	Aorta
8	chr7:104649400-104659400	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr7:104649600-104653200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:104649600-104657000	Active TSS	Colon Smooth Muscle	Colon
11	chr7:104649600-104658600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:104649600-104658800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:104649600-104659600	Active TSS	NHLF	lung
14	chr7:104649800-104654000	Active TSS	Stomach Smooth Muscle	stomach
15	chr7:104649800-104656400	Active TSS	Sigmoid Colon	Sigmoid Colon
16	chr7:104649800-104657000	Active TSS	NHEK	skin
17	chr7:104649800-104657600	Active TSS	Fetal Stomach	stomach
18	chr7:104649800-104657600	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr7:104649800-104658200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:104649800-104658600	Active TSS	Left Ventricle	heart
21	chr7:104650000-104657200	Active TSS	Fetal Intestine Large	intestine
22	chr7:104650000-104658000	Active TSS	Duodenum Mucosa	Duodenum
23	chr7:104650000-104658600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:104650000-104658600	Active TSS	Psoas Muscle	Psoas
25	chr7:104650200-104653000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:104650200-104654800	Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr7:104650200-104656200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:104650200-104658000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:104650400-104652800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:104650400-104657400	Active TSS	Fetal Intestine Small	intestine
31	chr7:104650400-104657800	Active TSS	H1 Cell Line	embryonic stem cell
32	chr7:104650600-104653000	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr7:104650600-104655000	Active TSS	Fetal Brain Female	brain
34	chr7:104650600-104656400	Active TSS	H9 Cell Line	embryonic stem cell
35	chr7:104650600-104656600	Active TSS	Fetal Muscle Trunk	muscle
36	chr7:104650600-104658800	Active TSS	Primary T cells fromperipheralblood	blood
37	chr7:104650800-104656400	Active TSS	Placenta	Placenta
38	chr7:104650800-104656600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr7:104650800-104657000	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr7:104650800-104657600	Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr7:104650800-104660800	Active TSS	GM12878-XiMat	blood
42	chr7:104651000-104656200	Active TSS	Lung	lung
43	chr7:104651000-104656400	Active TSS	Esophagus	oesophagus
44	chr7:104651000-104656600	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr7:104651000-104656600	Active TSS	Placenta Amnion	Placenta Amnion
46	chr7:104651000-104657200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:104651000-104657200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:104651000-104657400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:104651000-104657400	Active TSS	Thymus	Thymus
50	chr7:104651000-104657600	Active TSS	ES-I3 Cell Line	embryonic stem cell

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