Variant report

Variant	rs10269989
Chromosome Location	chr7:105042368-105042369
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:145)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:145 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:105042046-105042503	K562	blood:	n/a	n/a
2	TBP	chr7:105042110-105042460	H1-hESC	embryonic stem cell:	n/a	n/a
3	JUND	chr7:105042066-105042559	K562	blood:	n/a	n/a
4	CTCF	chr7:105042062-105042416	MCF-7	breast:	n/a	n/a
5	POLR2A	chr7:105042141-105042383	HepG2	liver:	n/a	n/a
6	CCNT2	chr7:105042201-105042473	K562	blood:	n/a	n/a
7	REST	chr7:105042117-105042411	HepG2	liver:	n/a	n/a
8	MAX	chr7:105042030-105042377	K562	blood:	n/a	n/a
9	ZMIZ1	chr7:105042119-105042463	K562	blood:	n/a	n/a
10	CBX3	chr7:105041976-105042503	K562	blood:	n/a	n/a
11	ZC3H11A	chr7:105042075-105042400	K562	blood:	n/a	n/a
12	ELF1	chr7:105041872-105042619	HCT-116	colon:	n/a	chr7:105042263-105042276
13	RCOR1	chr7:105042039-105042518	K562	blood:	n/a	n/a
14	TAF1	chr7:105042129-105042388	H1-hESC	embryonic stem cell:	n/a	n/a
15	RAD21	chr7:105042016-105042463	ECC-1	luminal epithelium:	n/a	n/a
16	HMGN3	chr7:105042194-105042427	K562	blood:	n/a	n/a
17	YY1	chr7:105042038-105042421	K562	blood:	n/a	n/a
18	TAL1	chr7:105042169-105042491	K562	blood:	n/a	n/a
19	CTCF	chr7:105042044-105042422	K562	blood:	n/a	n/a
20	ZNF143	chr7:105042060-105042514	K562	blood:	n/a	n/a
21	TCF12	chr7:105041986-105042567	ECC-1	luminal epithelium:	n/a	n/a
22	MYBL2	chr7:105041982-105042484	HepG2	liver:	n/a	n/a
23	POLR2A	chr7:105042149-105042388	H1-hESC	embryonic stem cell:	n/a	n/a
24	SMC3	chr7:105042052-105042438	Hela-S3	cervix:	n/a	n/a
25	GABPA	chr7:105042009-105042418	A549	lung:	n/a	n/a
26	CTCF	chr7:105041980-105042424	A549	lung:	n/a	n/a
27	POLR2A	chr7:105042229-105042373	Hela-S3	cervix:	n/a	n/a
28	YY1	chr7:105042035-105042377	HCT-116	colon:	n/a	n/a
29	ZNF384	chr7:105041966-105042389	K562	blood:	n/a	n/a
30	SPI1	chr7:105042094-105042375	GM12891	blood:	n/a	n/a
31	TAF1	chr7:105042138-105042398	Hela-S3	cervix:	n/a	n/a
32	NR2F2	chr7:105041904-105042613	K562	blood:	n/a	n/a
33	MYC	chr7:105042019-105042451	K562	blood:	n/a	n/a
34	POLR2A	chr7:105042070-105042477	HCT-116	colon:	n/a	n/a
35	HEY1	chr7:105042064-105042467	HepG2	liver:	n/a	n/a
36	YY1	chr7:105041986-105042501	H1-hESC	embryonic stem cell:	n/a	n/a
37	SIN3A	chr7:105042145-105042415	H1-hESC	embryonic stem cell:	n/a	n/a
38	SPI1	chr7:105042064-105042462	HL-60	blood:	n/a	n/a
39	SPI1	chr7:105042093-105042373	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:105042151-105042379	Hela-S3	cervix:	n/a	n/a
41	TBP	chr7:105042089-105042487	HepG2	liver:	n/a	n/a
42	CTCF	chr7:105041911-105042539	SK-N-SH	brain:	n/a	n/a
43	RAD21	chr7:105042059-105042507	MCF-7	breast:	n/a	n/a
44	ELK1	chr7:105042006-105042475	K562	blood:	n/a	n/a
45	ELF1	chr7:105042062-105042565	K562	blood:	n/a	chr7:105042263-105042276
46	CTCF	chr7:105041894-105042477	MCF-7	breast:	n/a	n/a
47	RAD21	chr7:105042039-105042379	IMR90	lung:	n/a	n/a
48	POLR2A	chr7:105042183-105042382	HepG2	liver:	n/a	n/a
49	CTCF	chr7:105041903-105042707	A549	lung:	n/a	n/a
50	UBTF	chr7:105042115-105042394	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:105028493..105030859-chr7:105041112..105043880,2	MCF-7	breast:
2	chr5:43514739..43515249-chr7:105041985..105042577,2	Hela-S3	cervix:
3	chr7:105027206..105036314-chr7:105036751..105044757,13	K562	blood:
4	chr7:104653578..104656991-chr7:105040264..105042441,3	MCF-7	breast:
5	chr7:105027932..105031943-chr7:105036648..105042469,7	K562	blood:
6	chr7:105041915..105043798-chr7:105045520..105047244,3	K562	blood:
7	chr7:105039956..105042512-chr7:105104408..105106506,2	K562	blood:
8	chr7:105041648..105042543-chr7:105069609..105070839,7	MCF-7	breast:

No data

Variant related genes	Relation type
SRPK2	TF binding region
ENSG00000239569	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000135250	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10228503	0.83[JPT][hapmap]
rs10230128	0.94[JPT][hapmap]
rs10240574	0.83[JPT][hapmap]
rs10259721	0.83[JPT][hapmap]
rs10261613	0.83[JPT][hapmap]
rs10261782	0.82[JPT][hapmap]
rs10267633	0.84[JPT][hapmap]
rs10953473	0.83[JPT][hapmap]
rs12705305	0.83[JPT][hapmap]
rs13223001	0.83[JPT][hapmap]
rs17721991	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs2237615	0.83[JPT][hapmap]
rs2237616	0.83[JPT][hapmap]
rs2237620	0.83[JPT][hapmap]
rs2299313	0.83[JPT][hapmap]
rs2299326	0.83[JPT][hapmap]
rs3779208	0.83[JPT][hapmap]
rs3801283	0.83[JPT][hapmap]
rs4727622	0.83[JPT][hapmap]
rs4727623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4730078	0.83[JPT][hapmap]
rs717352	0.83[JPT][hapmap]
rs9641343	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv1029832	chr7:104905057-105112489	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv1023767	chr7:104931143-105190662	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv539049	chr7:104931143-105190662	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv1034689	chr7:104950564-105085879	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv1022065	chr7:104997315-105190662	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
15	nsv888929	chr7:105012975-105163091	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
16	nsv888930	chr7:105012975-105170476	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
17	nsv888931	chr7:105012975-105173974	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
18	nsv888932	chr7:105012975-105179756	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
19	nsv888933	chr7:105012975-105193051	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic 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 lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
20	nsv888934	chr7:105016900-105056010	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	esv3436858	chr7:105017550-105044209	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv1018975	chr7:105018374-105153618	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
23	nsv539050	chr7:105018374-105153618	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
24	nsv1023564	chr7:105018484-105182998	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105041400-105042600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:105041600-105042600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr7:105041800-105042400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:105041800-105042400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:105041800-105042400	Enhancers	Adipose Nuclei	Adipose
6	chr7:105041800-105042400	Enhancers	Lung	lung
7	chr7:105041800-105042600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:105041800-105042600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:105041800-105042600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr7:105041800-105042600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr7:105041800-105042600	Enhancers	Stomach Mucosa	stomach
12	chr7:105041800-105042600	Enhancers	NHDF-Ad	bronchial
13	chr7:105041800-105042800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:105041800-105043200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr7:105041800-105043200	Enhancers	HUVEC	blood vessel
16	chr7:105041800-105043400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:105041800-105043400	Enhancers	Osteobl	bone
18	chr7:105041800-105043600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:105041800-105043600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:105042000-105042400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr7:105042000-105042400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:105042000-105042400	Enhancers	Brain Hippocampus Middle	brain
23	chr7:105042000-105042400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr7:105042000-105042400	Enhancers	Duodenum Mucosa	Duodenum
25	chr7:105042000-105042400	Enhancers	Fetal Intestine Large	intestine
26	chr7:105042000-105042400	Enhancers	Placenta	Placenta
27	chr7:105042000-105042400	Enhancers	Left Ventricle	heart
28	chr7:105042000-105042400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr7:105042000-105042400	Enhancers	GM12878-XiMat	blood
30	chr7:105042000-105042600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr7:105042000-105042600	Enhancers	Brain Cingulate Gyrus	brain
32	chr7:105042000-105042600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr7:105042000-105042600	Enhancers	Fetal Intestine Small	intestine
34	chr7:105042200-105042400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr7:105042200-105042400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr7:105042200-105042400	Enhancers	Thymus	Thymus
37	chr7:105042200-105042400	Flanking Active TSS	HepG2	liver
38	chr7:105042200-105042600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr7:105042200-105042600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr7:105042200-105042600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:105042200-105042600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:105042200-105042600	Enhancers	Brain Substantia Nigra	brain
43	chr7:105042200-105042600	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr7:105042200-105042600	Flanking Active TSS	A549	lung
45	chr7:105042200-105042600	Flanking Active TSS	K562	blood
46	chr7:105042200-105042600	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr7:105042200-105042800	Enhancers	NHLF	lung
48	chr7:105042200-105043400	Enhancers	HSMM	muscle

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