Variant report

Variant	rs17886728
Chromosome Location	chr7:100488638-100488639
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr7:100486055-100488667	IMR90	lung:	n/a	chr7:100487091-100487100
2	EP300	chr7:100488424-100488687	GM12878	blood:	n/a	n/a
3	ZBTB7A	chr7:100487386-100488989	K562	blood:	n/a	n/a
4	ZBTB7A	chr7:100487404-100488720	ECC-1	luminal epithelium:	n/a	n/a
5	ZBTB7A	chr7:100487369-100489176	K562	blood:	n/a	n/a
6	MAX	chr7:100486267-100488891	MCF-7	breast:	n/a	chr7:100487090-100487099 chr7:100487091-100487101
7	POLR2A	chr7:100480317-100488960	GM12878	blood:	n/a	n/a
8	POLR2A	chr7:100486133-100488727	HUVEC	blood vessel:	n/a	n/a
9	ESRRA	chr7:100486584-100489049	GM12878	blood:	n/a	n/a
10	TAF1	chr7:100487384-100488647	MCF-7	breast:	n/a	n/a
11	TEAD4	chr7:100488593-100488936	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr7:100487113-100488638	HCT-116	colon:	n/a	n/a
13	POLR2A	chr7:100484920-100488643	K562	blood:	n/a	n/a
14	BACH1	chr7:100488388-100488733	H1-hESC	embryonic stem cell:	n/a	n/a
15	ELF1	chr7:100487879-100488718	K562	blood:	n/a	n/a
16	POLR2A	chr7:100486902-100488728	MCF-7	breast:	n/a	n/a
17	ELF1	chr7:100487762-100489009	GM12878	blood:	n/a	n/a
18	POLR2A	chr7:100486229-100488816	GM12878	blood:	n/a	n/a
19	MAZ	chr7:100486894-100489023	GM12878	blood:	n/a	chr7:100487090-100487099 chr7:100487091-100487101
20	POLR2A	chr7:100480382-100488921	K562	blood:	n/a	n/a
21	SPI1	chr7:100488434-100488665	GM12878	blood:	n/a	n/a
22	SIN3AK20	chr7:100486467-100488830	MCF-7	breast:	n/a	n/a
23	E2F6	chr7:100488539-100488726	K562	blood:	n/a	n/a
24	POLR2A	chr7:100483381-100489176	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr7:100483511-100488697	PANC-1	pancreas:	n/a	n/a
26	ELF1	chr7:100486243-100488643	MCF-7	breast:	n/a	n/a
27	ZNF263	chr7:100488437-100488754	HEK293-T-REx	kidney:	n/a	chr7:100488589-100488610 chr7:100488625-100488646
28	POLR2A	chr7:100488572-100488845	HepG2	liver:	n/a	n/a
29	ATF2	chr7:100488455-100488811	H1-hESC	embryonic stem cell:	n/a	n/a
30	JUN	chr7:100484978-100489593	K562	blood:	n/a	chr7:100487205-100487219
31	NR2F2	chr7:100486381-100488858	MCF-7	breast:	n/a	n/a
32	MAZ	chr7:100486228-100489173	IMR90	lung:	n/a	chr7:100487090-100487099 chr7:100487091-100487101
33	MAX	chr7:100488553-100488695	GM12878	blood:	n/a	n/a
34	RUNX3	chr7:100488358-100488895	GM12878	blood:	n/a	n/a
35	SIN3A	chr7:100486813-100489047	H1-hESC	embryonic stem cell:	n/a	chr7:100487091-100487100 chr7:100487052-100487061
36	MXI1	chr7:100484657-100488815	SK-N-SH	brain:	n/a	chr7:100487091-100487100
37	PML	chr7:100484830-100489204	GM12878	blood:	n/a	n/a
38	POLR2A	chr7:100487514-100489154	K562	blood:	n/a	n/a
39	GABPA	chr7:100486830-100488839	MCF-7	breast:	n/a	chr7:100487442-100487453 chr7:100487439-100487453
40	MAZ	chr7:100486676-100488749	K562	blood:	n/a	chr7:100487090-100487099 chr7:100487091-100487101
41	ZBTB7A	chr7:100487454-100488732	ECC-1	luminal epithelium:	n/a	n/a
42	RUNX3	chr7:100488346-100488954	GM12878	blood:	n/a	n/a
43	CHD1	chr7:100487482-100488751	GM12878	blood:	n/a	n/a
44	POLR2A	chr7:100483214-100488865	GM12878	blood:	n/a	n/a
45	CHD2	chr7:100488613-100488666	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr7:100484627-100488952	GM12878	blood:	n/a	n/a
47	GABPA	chr7:100487394-100488649	K562	blood:	n/a	chr7:100487442-100487453 chr7:100487439-100487453
48	MAX	chr7:100486121-100488819	K562	blood:	n/a	chr7:100487090-100487099 chr7:100487091-100487101
49	POLR2A	chr7:100482998-100488699	K562	blood:	n/a	n/a
50	CHD2	chr7:100488464-100488723	GM12878	blood:	n/a	n/a

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100486439..100489230-chr7:100726552..100729974,6	MCF-7	breast:
2	chr7:100487624..100489181-chr7:100719587..100722224,2	K562	blood:
3	chr7:100303615..100305529-chr7:100486314..100489038,2	K562	blood:
4	chr7:100485568..100489865-chr7:100727204..100729829,6	MCF-7	breast:
5	chr7:100486144..100489424-chr7:100805467..100808505,5	MCF-7	breast:
6	chr7:100024866..100028113-chr7:100485356..100489963,5	MCF-7	breast:
7	chr7:100487486..100489308-chr7:100879476..100881483,2	K562	blood:
8	chr3:125093829..125095736-chr7:100486331..100489025,2	MCF-7	breast:
9	chr7:100486731..100489034-chr7:100894336..100897176,2	MCF-7	breast:
10	chr7:100486155..100488924-chr7:100732323..100735470,4	MCF-7	breast:
11	chr7:100486624..100489424-chr7:100545614..100548228,2	MCF-7	breast:
12	chr7:100447367..100452420-chr7:100484839..100489079,9	MCF-7	breast:
13	chr7:100486587..100489014-chr7:100735698..100737931,3	MCF-7	breast:
14	chr7:100433653..100435265-chr7:100487454..100490757,3	MCF-7	breast:
15	chr7:100182211..100184849-chr7:100486903..100489190,3	MCF-7	breast:
16	chr7:100487290..100489665-chr7:100607825..100610804,2	K562	blood:
17	chr7:100486719..100488706-chr7:100796879..100799403,2	MCF-7	breast:
18	chr7:100315107..100317886-chr7:100488286..100489805,2	MCF-7	breast:
19	chr7:100299982..100306646-chr7:100485585..100490991,8	MCF-7	breast:
20	chr7:100421851..100424595-chr7:100488128..100489967,2	MCF-7	breast:
21	chr7:100208465..100211590-chr7:100485559..100488810,4	MCF-7	breast:
22	chr7:100486477..100489401-chr7:100859928..100862607,2	MCF-7	breast:
23	chr7:100486764..100489719-chr7:100736778..100738797,2	K562	blood:
24	chr7:100487416..100489348-chr7:101516491..101519278,2	MCF-7	breast:
25	chr7:100484134..100489082-chr7:100804986..100809404,8	MCF-7	breast:
26	chr7:100025949..100027642-chr7:100487777..100489380,2	MCF-7	breast:
27	chr7:100488064..100490956-chr7:100899362..100902023,2	MCF-7	breast:
28	chr7:100423424..100426106-chr7:100484562..100490364,9	MCF-7	breast:

No data

Variant related genes	Relation type
UFSP1	TF binding region
ENSG00000077454	Chromatin interaction
ENSG00000163848	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000106367	Chromatin interaction
ENSG00000106400	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000128564	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000169894	Chromatin interaction
ENSG00000106404	Chromatin interaction
ENSG00000225946	Chromatin interaction
ENSG00000260336	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000214253	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000169871	Chromatin interaction
ENSG00000236305	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000228273	Chromatin interaction
ENSG00000106397	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
9	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
10	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
11	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
12	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
13	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
14	nsv888802	chr7:100484917-100495530	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
15	nsv607968	chr7:100486035-100492896	Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	39 gene(s)	inside rSNPs	diseases
16	nsv888803	chr7:100486656-100497131	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
17	nsv888804	chr7:100486754-100494202	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
18	nsv888805	chr7:100486754-100498057	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
19	nsv482110	chr7:100487616-100493541	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
20	nsv888806	chr7:100488407-100495530	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100484800-100488800	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr7:100486200-100489000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:100486400-100489200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr7:100486400-100489400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:100486600-100489000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr7:100486600-100489000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr7:100486600-100489000	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr7:100486600-100489000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:100486600-100489000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:100486600-100489000	Active TSS	Rectal Smooth Muscle	rectum
11	chr7:100486600-100489200	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr7:100486600-100489200	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr7:100486600-100489200	Active TSS	Fetal Kidney	kidney
14	chr7:100486600-100489400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr7:100486600-100489400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr7:100486600-100489400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:100486600-100489400	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr7:100486600-100490600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:100486800-100488800	Active TSS	Ovary	ovary
20	chr7:100486800-100489000	Active TSS	Colon Smooth Muscle	Colon
21	chr7:100486800-100489200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:100487000-100489400	Active TSS	Fetal Lung	lung
23	chr7:100487600-100488800	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr7:100487600-100488800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr7:100487600-100488800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr7:100487600-100488800	Flanking Active TSS	HMEC	breast
27	chr7:100487600-100489000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:100487600-100489000	Flanking Active TSS	Placenta	Placenta
29	chr7:100487600-100489000	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr7:100487600-100489200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:100487600-100489200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:100487600-100489200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:100487800-100488800	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr7:100487800-100488800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:100487800-100488800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:100487800-100488800	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr7:100487800-100488800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:100487800-100488800	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr7:100487800-100488800	Flanking Active TSS	GM12878-XiMat	blood
40	chr7:100487800-100488800	Flanking Active TSS	HSMM	muscle
41	chr7:100487800-100488800	Flanking Active TSS	K562	blood
42	chr7:100487800-100488800	Flanking Active TSS	NH-A	brain
43	chr7:100487800-100489000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr7:100487800-100489000	Flanking Active TSS	Colonic Mucosa	Colon
45	chr7:100487800-100489000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
46	chr7:100487800-100489200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:100487800-100489400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:100488000-100488800	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr7:100488000-100488800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
50	chr7:100488000-100488800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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