Variant report

Variant	rs17885823
Chromosome Location	chr7:100487301-100487302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 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	chr7:100303615..100305529-chr7:100486314..100489038,2	K562	blood:
4	chr7:100402719..100405578-chr7:100487091..100488628,2	K562	blood:
5	chr7:100485568..100489865-chr7:100727204..100729829,6	MCF-7	breast:
6	chr7:100486144..100489424-chr7:100805467..100808505,5	MCF-7	breast:
7	chr1:179712115..179713115-chr7:100486907..100487582,2	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	chr7:100269920..100272546-chr7:100486381..100488020,2	MCF-7	breast:
11	chr3:125093829..125095736-chr7:100486331..100489025,2	MCF-7	breast:
12	chr7:100485751..100487913-chr7:100611034..100613104,2	K562	blood:
13	chr7:100486731..100489034-chr7:100894336..100897176,2	MCF-7	breast:
14	chr7:100486155..100488924-chr7:100732323..100735470,4	MCF-7	breast:
15	chr7:100486624..100489424-chr7:100545614..100548228,2	MCF-7	breast:
16	chr6:42749094..42751752-chr7:100485925..100488500,3	MCF-7	breast:
17	chr10:27149423..27150047-chr7:100487107..100487691,2	Hela-S3	cervix:
18	chr7:100447367..100452420-chr7:100484839..100489079,9	MCF-7	breast:
19	chr6:24774752..24775406-chr7:100486913..100487602,2	HCT-116	colon:
20	chr7:100223306..100225539-chr7:100484655..100487462,2	K562	blood:
21	chr7:100486587..100489014-chr7:100735698..100737931,3	MCF-7	breast:
22	chr7:100182211..100184849-chr7:100486903..100489190,3	MCF-7	breast:
23	chr7:100487290..100489665-chr7:100607825..100610804,2	K562	blood:
24	chr7:100485984..100488072-chr7:100806477..100808899,2	K562	blood:
25	chr15:60689899..60690503-chr7:100486937..100487820,2	Hela-S3	cervix:
26	chr13:31736451..31736972-chr7:100487069..100487988,2	HCT-116	colon:
27	chr7:100448922..100451627-chr7:100483976..100487908,4	K562	blood:
28	chr7:63773941..63774744-chr7:100487108..100487984,2	NB4	blood:
29	chr7:100486719..100488706-chr7:100796879..100799403,2	MCF-7	breast:
30	chr7:100299982..100306646-chr7:100485585..100490991,8	MCF-7	breast:
31	chr7:100201842..100204261-chr7:100485824..100488204,2	MCF-7	breast:
32	chr7:100208465..100211590-chr7:100485559..100488810,4	MCF-7	breast:
33	chr7:100486477..100489401-chr7:100859928..100862607,2	MCF-7	breast:
34	chr7:100486764..100489719-chr7:100736778..100738797,2	K562	blood:
35	chr7:100484134..100489082-chr7:100804986..100809404,8	MCF-7	breast:
36	chr7:100486083..100488238-chr7:100659648..100662388,2	MCF-7	breast:
37	chr7:100472344..100473067-chr7:100487033..100488215,3	MCF-7	breast:
38	chr7:100423550..100425060-chr7:100485976..100488045,2	K562	blood:
39	chr7:100423424..100426106-chr7:100484562..100490364,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225946	Chromatin interaction
ENSG00000169871	Chromatin interaction
ENSG00000112312	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000106400	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000236305	Chromatin interaction
ENSG00000214253	Chromatin interaction
ENSG00000106333	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000169894	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000136754	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000234444	Chromatin interaction
ENSG00000227053	Chromatin interaction
ENSG00000106367	Chromatin interaction
ENSG00000143340	Chromatin interaction
ENSG00000228273	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000112624	Chromatin interaction
ENSG00000182718	Chromatin interaction
ENSG00000205277	Chromatin interaction
ENSG00000263672	Chromatin interaction
ENSG00000120694	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000163848	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000128564	Chromatin interaction
ENSG00000106397	Chromatin interaction
ENSG00000260336	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000077454	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11973842	1.00[EUR][1000 genomes]
rs11974682	1.00[EUR][1000 genomes]
rs11983638	1.00[EUR][1000 genomes]
rs17228581	1.00[EUR][1000 genomes]
rs17228609	1.00[EUR][1000 genomes]
rs17234989	1.00[EUR][1000 genomes]
rs17881553	1.00[EUR][1000 genomes]
rs35246066	1.00[EUR][1000 genomes]

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	nsv607967	chr7:100486016-100487748	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	37 gene(s)	inside rSNPs	diseases
16	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
17	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
18	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
19	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100484800-100487400	Enhancers	Stomach Mucosa	stomach
2	chr7:100484800-100488800	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr7:100486000-100488400	Active TSS	Psoas Muscle	Psoas
4	chr7:100486200-100487400	Enhancers	Fetal Brain Male	brain
5	chr7:100486200-100489000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:100486400-100488400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr7:100486400-100489200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr7:100486400-100489400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:100486600-100487600	Active TSS	Hela-S3	cervix
10	chr7:100486600-100487800	Active TSS	H1 Cell Line	embryonic stem cell
11	chr7:100486600-100487800	Active TSS	Fetal Brain Female	brain
12	chr7:100486600-100487800	Active TSS	GM12878-XiMat	blood
13	chr7:100486600-100487800	Active TSS	HSMMtube	muscle
14	chr7:100486600-100488000	Active TSS	NHEK	skin
15	chr7:100486600-100488600	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr7:100486600-100488600	Active TSS	Placenta Amnion	Placenta Amnion
17	chr7:100486600-100489000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr7:100486600-100489000	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr7:100486600-100489000	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr7:100486600-100489000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:100486600-100489000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:100486600-100489000	Active TSS	Rectal Smooth Muscle	rectum
23	chr7:100486600-100489200	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr7:100486600-100489200	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr7:100486600-100489200	Active TSS	Fetal Kidney	kidney
26	chr7:100486600-100489400	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr7:100486600-100489400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr7:100486600-100489400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:100486600-100489400	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr7:100486600-100490600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:100486800-100487600	Active TSS	Brain Germinal Matrix	brain
32	chr7:100486800-100487600	Weak transcription	Fetal Heart	heart
33	chr7:100486800-100487600	Active TSS	Fetal Intestine Large	intestine
34	chr7:100486800-100487600	Active TSS	Osteobl	bone
35	chr7:100486800-100487800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:100486800-100487800	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr7:100486800-100487800	Active TSS	Muscle Satellite Cultured Cells	--
38	chr7:100486800-100487800	Active TSS	Brain Angular Gyrus	brain
39	chr7:100486800-100487800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:100486800-100487800	Active TSS	Duodenum Mucosa	Duodenum
41	chr7:100486800-100487800	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr7:100486800-100487800	Active TSS	HSMM	muscle
43	chr7:100486800-100488000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:100486800-100488000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:100486800-100488000	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr7:100486800-100488000	Active TSS	Brain Cingulate Gyrus	brain
47	chr7:100486800-100488000	Active TSS	Esophagus	oesophagus
48	chr7:100486800-100488000	Active TSS	Small Intestine	intestine
49	chr7:100486800-100488200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:100486800-100488200	Active TSS	Aorta	Aorta

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