Variant report

Variant	rs190663480
Chromosome Location	chr7:100488297-100488298
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:151)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:151 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:100482512-100488569	K562	blood:	n/a	n/a
2	MAX	chr7:100486798-100488360	ECC-1	luminal epithelium:	n/a	chr7:100487090-100487099 chr7:100487091-100487101
3	GABPA	chr7:100487794-100488338	H1-hESC	embryonic stem cell:	n/a	n/a
4	MXI1	chr7:100486055-100488667	IMR90	lung:	n/a	chr7:100487091-100487100
5	UBTF	chr7:100486100-100488487	K562	blood:	n/a	n/a
6	MYC	chr7:100485082-100488580	NB4	blood:	n/a	chr7:100487090-100487099 chr7:100487091-100487101 chr7:100485503-100485513
7	ZBTB7A	chr7:100487386-100488989	K562	blood:	n/a	n/a
8	PML	chr7:100486432-100488427	MCF-7	breast:	n/a	n/a
9	EP300	chr7:100487886-100488421	K562	blood:	n/a	n/a
10	ZBTB7A	chr7:100487404-100488720	ECC-1	luminal epithelium:	n/a	n/a
11	NRF1	chr7:100486876-100488328	SK-N-SH	brain:	n/a	chr7:100487442-100487453 chr7:100487442-100487453 chr7:100487439-100487453
12	POLR2A	chr7:100484695-100488620	PANC-1	pancreas:	n/a	n/a
13	ZBTB7A	chr7:100487369-100489176	K562	blood:	n/a	n/a
14	MAX	chr7:100486267-100488891	MCF-7	breast:	n/a	chr7:100487090-100487099 chr7:100487091-100487101
15	POLR2A	chr7:100480317-100488960	GM12878	blood:	n/a	n/a
16	CHD2	chr7:100487868-100488340	K562	blood:	n/a	n/a
17	MAX	chr7:100486650-100488443	A549	lung:	n/a	chr7:100487090-100487099 chr7:100487091-100487101
18	POLR2A	chr7:100486133-100488727	HUVEC	blood vessel:	n/a	n/a
19	TAF1	chr7:100487885-100488399	PFSK-1	brain:	n/a	n/a
20	GABPA	chr7:100487746-100488373	A549	lung:	n/a	n/a
21	ESRRA	chr7:100486584-100489049	GM12878	blood:	n/a	n/a
22	USF1	chr7:100487840-100488303	SK-N-SH_RA	brain:	n/a	chr7:100488079-100488090
23	HA-E2F1	chr7:100487670-100488351	MCF-7	breast:	n/a	n/a
24	TAF1	chr7:100487384-100488647	MCF-7	breast:	n/a	n/a
25	MAX	chr7:100486220-100488472	A549	lung:	n/a	chr7:100487090-100487099 chr7:100487091-100487101
26	PBX3	chr7:100486232-100488370	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr7:100486202-100488332	U87	brain:	n/a	n/a
28	POLR2A	chr7:100487113-100488638	HCT-116	colon:	n/a	n/a
29	MAX	chr7:100486761-100488385	H1-hESC	embryonic stem cell:	n/a	chr7:100487090-100487099 chr7:100487091-100487101
30	POLR2A	chr7:100484920-100488643	K562	blood:	n/a	n/a
31	SP1	chr7:100487357-100488408	H1-hESC	embryonic stem cell:	n/a	n/a
32	MXI1	chr7:100486916-100488539	GM12878	blood:	n/a	chr7:100487091-100487100
33	ELF1	chr7:100487879-100488718	K562	blood:	n/a	n/a
34	YY1	chr7:100487481-100488305	ECC-1	luminal epithelium:	n/a	n/a
35	GABPA	chr7:100487986-100488348	K562	blood:	n/a	n/a
36	POLR2A	chr7:100486902-100488728	MCF-7	breast:	n/a	n/a
37	MAX	chr7:100486784-100488392	ECC-1	luminal epithelium:	n/a	chr7:100487090-100487099 chr7:100487091-100487101
38	POLR2A	chr7:100484742-100488541	HCT-116	colon:	n/a	n/a
39	POLR2A	chr7:100483100-100488395	MCF-7	breast:	n/a	n/a
40	ELF1	chr7:100487762-100489009	GM12878	blood:	n/a	n/a
41	TAF1	chr7:100487767-100488362	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr7:100483376-100488553	K562	blood:	n/a	n/a
43	POLR2A	chr7:100486229-100488816	GM12878	blood:	n/a	n/a
44	MAZ	chr7:100486894-100489023	GM12878	blood:	n/a	chr7:100487090-100487099 chr7:100487091-100487101
45	MYC	chr7:100486102-100488423	K562	blood:	n/a	chr7:100487090-100487099 chr7:100487091-100487101
46	POLR2A	chr7:100480382-100488921	K562	blood:	n/a	n/a
47	E2F6	chr7:100487403-100488386	H1-hESC	embryonic stem cell:	n/a	chr7:100487443-100487452 chr7:100487977-100487988
48	POLR2A	chr7:100486278-100488624	ECC-1	luminal epithelium:	n/a	n/a
49	IRF1	chr7:100487125-100488315	K562	blood:	n/a	n/a
50	SIN3AK20	chr7:100486467-100488830	MCF-7	breast:	n/a	n/a

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100486439..100489230-chr7:100726552..100729974,6	MCF-7	breast:
2	chr7:100418397..100419909-chr7:100486584..100488563,2	MCF-7	breast:
3	chr7:100487624..100489181-chr7:100719587..100722224,2	K562	blood:
4	chr7:100303615..100305529-chr7:100486314..100489038,2	K562	blood:
5	chr7:100402719..100405578-chr7:100487091..100488628,2	K562	blood:
6	chr7:100485568..100489865-chr7:100727204..100729829,6	MCF-7	breast:
7	chr7:100486144..100489424-chr7:100805467..100808505,5	MCF-7	breast:
8	chr7:100024866..100028113-chr7:100485356..100489963,5	MCF-7	breast:
9	chr7:100269556..100272634-chr7:100485447..100488529,3	K562	blood:
10	chr7:100487486..100489308-chr7:100879476..100881483,2	K562	blood:
11	chr3:125093829..125095736-chr7:100486331..100489025,2	MCF-7	breast:
12	chr7:100486731..100489034-chr7:100894336..100897176,2	MCF-7	breast:
13	chr7:100486155..100488924-chr7:100732323..100735470,4	MCF-7	breast:
14	chr7:100486624..100489424-chr7:100545614..100548228,2	MCF-7	breast:
15	chr6:42749094..42751752-chr7:100485925..100488500,3	MCF-7	breast:
16	chr7:100447367..100452420-chr7:100484839..100489079,9	MCF-7	breast:
17	chr7:100486587..100489014-chr7:100735698..100737931,3	MCF-7	breast:
18	chr7:100433653..100435265-chr7:100487454..100490757,3	MCF-7	breast:
19	chr7:100182211..100184849-chr7:100486903..100489190,3	MCF-7	breast:
20	chr7:100487290..100489665-chr7:100607825..100610804,2	K562	blood:
21	chr7:100486719..100488706-chr7:100796879..100799403,2	MCF-7	breast:
22	chr7:100315107..100317886-chr7:100488286..100489805,2	MCF-7	breast:
23	chr7:100299982..100306646-chr7:100485585..100490991,8	MCF-7	breast:
24	chr7:100421851..100424595-chr7:100488128..100489967,2	MCF-7	breast:
25	chr7:100208465..100211590-chr7:100485559..100488810,4	MCF-7	breast:
26	chr7:100486477..100489401-chr7:100859928..100862607,2	MCF-7	breast:
27	chr7:100486764..100489719-chr7:100736778..100738797,2	K562	blood:
28	chr7:100487416..100489348-chr7:101516491..101519278,2	MCF-7	breast:
29	chr7:100484134..100489082-chr7:100804986..100809404,8	MCF-7	breast:
30	chr7:100025949..100027642-chr7:100487777..100489380,2	MCF-7	breast:
31	chr7:100488064..100490956-chr7:100899362..100902023,2	MCF-7	breast:
32	chr7:100423424..100426106-chr7:100484562..100490364,9	MCF-7	breast:

No data

Variant related genes	Relation type
UFSP1	TF binding region
ENSG00000146834	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000228273	Chromatin interaction
ENSG00000112624	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000169894	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000106367	Chromatin interaction
ENSG00000128564	Chromatin interaction
ENSG00000260336	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000106397	Chromatin interaction
ENSG00000263672	Chromatin interaction
ENSG00000163848	Chromatin interaction
ENSG00000214253	Chromatin interaction
ENSG00000106400	Chromatin interaction
ENSG00000106404	Chromatin interaction
ENSG00000169871	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000236305	Chromatin interaction
ENSG00000225946	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000172336	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 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

No data

Chromatin state (count:127 , 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	chr7:100486000-100488400	Active TSS	Psoas Muscle	Psoas
3	chr7:100486200-100489000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:100486400-100488400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr7:100486400-100489200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr7:100486400-100489400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:100486600-100488600	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr7:100486600-100488600	Active TSS	Placenta Amnion	Placenta Amnion
9	chr7:100486600-100489000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr7:100486600-100489000	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr7:100486600-100489000	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr7:100486600-100489000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:100486600-100489000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:100486600-100489000	Active TSS	Rectal Smooth Muscle	rectum
15	chr7:100486600-100489200	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr7:100486600-100489200	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr7:100486600-100489200	Active TSS	Fetal Kidney	kidney
18	chr7:100486600-100489400	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr7:100486600-100489400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr7:100486600-100489400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:100486600-100489400	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr7:100486600-100490600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:100486800-100488400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:100486800-100488400	Active TSS	Brain Substantia Nigra	brain
25	chr7:100486800-100488400	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr7:100486800-100488800	Active TSS	Ovary	ovary
27	chr7:100486800-100489000	Active TSS	Colon Smooth Muscle	Colon
28	chr7:100486800-100489200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:100487000-100488400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:100487000-100488400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:100487000-100489400	Active TSS	Fetal Lung	lung
32	chr7:100487200-100488400	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr7:100487600-100488400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
34	chr7:100487600-100488400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr7:100487600-100488400	Flanking Active TSS	Fetal Muscle Trunk	muscle
36	chr7:100487600-100488600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:100487600-100488600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:100487600-100488600	Flanking Active TSS	Fetal Intestine Large	intestine
39	chr7:100487600-100488600	Flanking Active TSS	Fetal Intestine Small	intestine
40	chr7:100487600-100488600	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr7:100487600-100488600	Flanking Active TSS	Hela-S3	cervix
42	chr7:100487600-100488600	Flanking Active TSS	HUVEC	blood vessel
43	chr7:100487600-100488800	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr7:100487600-100488800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr7:100487600-100488800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr7:100487600-100488800	Flanking Active TSS	HMEC	breast
47	chr7:100487600-100489000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:100487600-100489000	Flanking Active TSS	Placenta	Placenta
49	chr7:100487600-100489000	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr7:100487600-100489200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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