Variant report

Variant	rs557098619
Chromosome Location	chr16:30969801-30969802
allele	-/G
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:49)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30967331..30971455-chr16:31189672..31193521,14	K562	blood:
2	chr16:30933332..30935559-chr16:30969303..30971318,2	K562	blood:
3	chr16:30932533..30935734-chr16:30966751..30970803,5	K562	blood:
4	chr16:30968063..30971621-chr16:31128915..31132343,4	K562	blood:
5	chr16:30969324..30969876-chr6:74230441..74231144,2	Hela-S3	cervix:
6	chr16:30966729..30970735-chr16:31118988..31121519,3	MCF-7	breast:
7	chr16:30967313..30970142-chr16:31190595..31192726,3	MCF-7	breast:
8	chr16:30885130..30887903-chr16:30968069..30970202,3	MCF-7	breast:
9	chr16:30967183..30971961-chr16:31469060..31471569,4	MCF-7	breast:
10	chr16:30906472..30908810-chr16:30967387..30969859,2	K562	blood:
11	chr16:30967372..30970193-chr16:31225350..31227883,2	MCF-7	breast:
12	chr16:30967872..30970200-chr16:31160526..31163254,2	K562	blood:
13	chr16:30936648..30939511-chr16:30968022..30970933,3	MCF-7	breast:
14	chr16:30967386..30971624-chr16:31189375..31193961,9	K562	blood:
15	chr16:30787481..30790093-chr16:30968266..30970450,2	K562	blood:
16	chr16:30967600..30970776-chr16:31084507..31087266,4	MCF-7	breast:
17	chr16:30969245..30970179-chr19:49375428..49376336,2	Hela-S3	cervix:
18	chr11:65658040..65658608-chr16:30969483..30970474,2	Hela-S3	cervix:
19	chr16:30905169..30907164-chr16:30967632..30970611,2	K562	blood:
20	chr16:30968251..30971465-chr16:31104162..31108928,5	MCF-7	breast:
21	chr16:30968345..30970795-chr16:30996661..31000962,4	MCF-7	breast:
22	chr16:30968101..30970312-chr16:30994646..30997121,3	MCF-7	breast:
23	chr16:30968509..30970515-chr16:31884126..31886399,2	K562	blood:
24	chr16:30967393..30971949-chr16:31083830..31088417,7	K562	blood:
25	chr16:30661294..30664208-chr16:30968481..30971665,3	MCF-7	breast:
26	chr16:30967074..30970924-chr16:31469051..31472537,7	K562	blood:
27	chr16:30968166..30970668-chr16:31152878..31154603,2	MCF-7	breast:
28	chr16:30709744..30712013-chr16:30968880..30970502,2	MCF-7	breast:
29	chr16:30968024..30972662-chr16:31101043..31106214,4	MCF-7	breast:
30	chr16:30967179..30972282-chr16:31082507..31088894,13	MCF-7	breast:
31	chr16:30968652..30970204-chr16:31469437..31471305,2	MCF-7	breast:
32	chr16:30931053..30936697-chr16:30966530..30971104,6	MCF-7	breast:
33	chr16:30969131..30970956-chr16:31201908..31204585,2	MCF-7	breast:
34	chr16:30785225..30786834-chr16:30968758..30970807,2	K562	blood:
35	chr16:30967074..30970924-chr16:31469051..31472279,6	K562	blood:
36	chr16:30933863..30936209-chr16:30967329..30971439,5	MCF-7	breast:
37	chr16:30967808..30970715-chr16:30993015..30997033,4	K562	blood:
38	chr16:30708565..30710498-chr16:30967693..30970480,3	K562	blood:
39	chr16:30969242..30970758-chr16:31007667..31009607,2	K562	blood:
40	chr16:30967863..30970561-chr16:31152190..31155312,3	K562	blood:
41	chr16:30671487..30673418-chr16:30969039..30970586,2	K562	blood:
42	chr16:30968978..30971725-chr16:31006942..31010708,4	K562	blood:
43	chr16:30968533..30970596-chr16:31206944..31209887,2	K562	blood:
44	chr16:30787481..30790193-chr16:30968511..30970450,2	K562	blood:
45	chr16:30969010..30970888-chr16:31043555..31045829,3	K562	blood:
46	chr16:30967393..30971385-chr16:31083259..31086232,6	K562	blood:
47	chr16:30708936..30712121-chr16:30967511..30970972,5	K562	blood:
48	chr16:30537776..30539709-chr16:30967467..30970104,2	MCF-7	breast:
49	chr16:30762720..30764607-chr16:30967390..30969922,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000087074	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000260060	Chromatin interaction
ENSG00000156873	Chromatin interaction
ENSG00000262721	Chromatin interaction
ENSG00000260083	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000169900	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000103510	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000262766	Chromatin interaction
ENSG00000150281	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000262026	Chromatin interaction
ENSG00000099377	Chromatin interaction
ENSG00000169957	Chromatin interaction
ENSG00000265991	Chromatin interaction
ENSG00000252809	Chromatin interaction
ENSG00000167397	Chromatin interaction
ENSG00000103549	Chromatin interaction
ENSG00000099385	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000211591	Chromatin interaction
ENSG00000255439	Chromatin interaction
ENSG00000185947	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000268863	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000103496	Chromatin interaction
ENSG00000099364	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' 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	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
5	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
6	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
7	nsv905733	chr16:30796919-31004812	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
8	nsv833190	chr16:30845051-31007863	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
9	nsv833191	chr16:30864242-31048051	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
10	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
11	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers 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	264 gene(s)	inside rSNPs	diseases
12	nsv905736	chr16:30900235-30995528	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
13	nsv905737	chr16:30900235-31014179	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription 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	95 gene(s)	inside rSNPs	diseases
14	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
15	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
16	nsv905738	chr16:30906274-30973926	Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
17	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
18	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
19	esv3508669	chr16:30968201-30971099	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	46 gene(s)	inside rSNPs	n/a
20	esv3508670	chr16:30968201-30971099	Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	46 gene(s)	inside rSNPs	n/a
21	esv3359616	chr16:30968476-30971024	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	46 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30967800-30970000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr16:30967800-30970000	Active TSS	Brain Substantia Nigra	brain
3	chr16:30968000-30970000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr16:30968000-30970000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:30968000-30970000	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr16:30968000-30970000	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr16:30968000-30970000	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr16:30968000-30970000	Active TSS	Muscle Satellite Cultured Cells	--
9	chr16:30968000-30970000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:30968000-30970000	Active TSS	Brain Anterior Caudate	brain
11	chr16:30968000-30970000	Active TSS	HSMM	muscle
12	chr16:30968000-30970200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:30968000-30970200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr16:30968000-30970200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr16:30968000-30970400	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr16:30968000-30970400	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr16:30968200-30970000	Active TSS	H1 Cell Line	embryonic stem cell
18	chr16:30968200-30970000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr16:30968200-30970000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr16:30968200-30970000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr16:30968200-30970000	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr16:30968200-30970000	Active TSS	Psoas Muscle	Psoas
23	chr16:30968200-30970000	Active TSS	HSMMtube	muscle
24	chr16:30968200-30970200	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr16:30968200-30970200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr16:30968200-30970200	Active TSS	A549	lung
27	chr16:30968200-30970400	Active TSS	Fetal Kidney	kidney
28	chr16:30968200-30970400	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr16:30968200-30970400	Active TSS	NHLF	lung
30	chr16:30968400-30970000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr16:30968400-30970000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:30968400-30970000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr16:30968400-30970000	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr16:30968400-30970000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr16:30968400-30970000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr16:30968400-30970000	Active TSS	Brain Hippocampus Middle	brain
37	chr16:30968400-30970000	Active TSS	Colon Smooth Muscle	Colon
38	chr16:30968400-30970000	Active TSS	Esophagus	oesophagus
39	chr16:30968400-30970000	Active TSS	Fetal Intestine Large	intestine
40	chr16:30968400-30970000	Active TSS	Fetal Intestine Small	intestine
41	chr16:30968400-30970000	Active TSS	Gastric	stomach
42	chr16:30968400-30970000	Active TSS	Left Ventricle	heart
43	chr16:30968400-30970000	Active TSS	Ovary	ovary
44	chr16:30968400-30970000	Active TSS	Thymus	Thymus
45	chr16:30968400-30970000	Active TSS	GM12878-XiMat	blood
46	chr16:30968400-30970000	Active TSS	NHDF-Ad	bronchial
47	chr16:30968600-30970000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr16:30968600-30970000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr16:30968600-30970000	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr16:30968600-30970000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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