Variant report

Variant	rs555067099
Chromosome Location	chr16:30935362-30935363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30932923-30935381	H1-neurons	neurons:	n/a	n/a
2	ZBTB7A	chr16:30934728-30936013	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr16:30932708-30935570	SK-N-MC	brain:	n/a	n/a
4	MXI1	chr16:30932725-30936575	IMR90	lung:	n/a	n/a
5	ZBTB7A	chr16:30935016-30935388	HepG2	liver:	n/a	n/a
6	ZBTB7A	chr16:30934907-30935448	HepG2	liver:	n/a	n/a
7	ZBTB7A	chr16:30934673-30936530	K562	blood:	n/a	n/a
8	MAZ	chr16:30932745-30936180	IMR90	lung:	n/a	chr16:30936153-30936162 chr16:30935869-30935879 chr16:30935316-30935326 chr16:30935764-30935783 chr16:30935631-30935641
9	ZBTB7A	chr16:30934741-30936207	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr16:30932766-30936070	K562	blood:	n/a	n/a
11	POLR2A	chr16:30932906-30936186	H1-hESC	embryonic stem cell:	n/a	n/a
12	REST	chr16:30932741-30935455	H1-neurons	neurons:	n/a	chr16:30934045-30934058 chr16:30934187-30934200 chr16:30935192-30935205 chr16:30933650-30933663
13	POLR2A	chr16:30932912-30935403	H1-neurons	neurons:	n/a	n/a
14	ELF1	chr16:30935139-30935382	K562	blood:	n/a	n/a
15	ZBTB7A	chr16:30934504-30936302	K562	blood:	n/a	n/a

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30749500..30754511-chr16:30932304..30935822,6	MCF-7	breast:
2	chr16:30775945..30778308-chr16:30932961..30936468,4	MCF-7	breast:
3	chr16:30708299..30711208-chr16:30931702..30936734,5	MCF-7	breast:
4	chr16:30902291..30910124-chr16:30929571..30937617,16	K562	blood:
5	chr16:30903642..30909138-chr16:30932304..30936727,12	MCF-7	breast:
6	chr16:30885239..30889762-chr16:30932057..30936596,5	K562	blood:
7	chr16:30933224..30936181-chr16:31190353..31192929,3	MCF-7	breast:
8	chr16:30795105..30800041-chr16:30931976..30937405,9	MCF-7	breast:
9	chr16:30933863..30936209-chr16:30967329..30971439,5	MCF-7	breast:
10	chr16:30931053..30936697-chr16:30966530..30971104,6	MCF-7	breast:
11	chr16:30902664..30909579-chr16:30931454..30940613,20	MCF-7	breast:
12	chr16:30933650..30935659-chr16:30958859..30961099,3	MCF-7	breast:
13	chr16:30783772..30791593-chr16:30931071..30936822,9	MCF-7	breast:
14	chr16:30933762..30935434-chr16:30953363..30955421,2	K562	blood:
15	chr16:30771138..30775135-chr16:30932116..30935546,5	K562	blood:
16	chr16:30785189..30790485-chr16:30931540..30936077,12	K562	blood:
17	chr16:30773358..30775666-chr16:30933218..30935538,2	MCF-7	breast:
18	chr16:30708050..30711529-chr16:30932244..30936391,8	K562	blood:
19	chr16:30884320..30888249-chr16:30933469..30936807,5	MCF-7	breast:
20	chr16:30932570..30935399-chr16:30951570..30953747,3	MCF-7	breast:
21	chr16:30757799..30759751-chr16:30933800..30935636,3	K562	blood:
22	chr16:30919055..30921667-chr16:30931962..30935622,4	K562	blood:
23	chr16:30933979..30936655-chr16:30960385..30962981,2	MCF-7	breast:
24	chr16:30669272..30672997-chr16:30933501..30936286,4	MCF-7	breast:
25	chr16:30934180..30936242-chr16:30957636..30959919,2	MCF-7	breast:
26	chr16:30904584..30910124-chr16:30931578..30937019,11	K562	blood:
27	chr16:30777672..30780063-chr16:30933976..30935997,2	K562	blood:
28	chr16:30932533..30936330-chr16:30966882..30969248,5	K562	blood:
29	chr16:30707963..30711732-chr16:30932569..30936139,6	K562	blood:
30	chr16:30757630..30759751-chr16:30932681..30935536,3	K562	blood:
31	chr16:30931099..30935683-chr16:30951173..30955369,5	MCF-7	breast:
32	chr16:30932022..30936181-chr16:30958194..30961985,7	K562	blood:
33	chr16:30795368..30800075-chr16:30931111..30935900,11	MCF-7	breast:
34	chr16:30932533..30935734-chr16:30966751..30970803,5	K562	blood:
35	chr16:30931619..30936181-chr16:30955998..30963201,14	K562	blood:
36	chr16:30784974..30791554-chr16:30930641..30936449,8	MCF-7	breast:

No data

Variant related genes	Relation type
FBXL19	TF binding region
FBXL19-AS1	TF binding region
ENSG00000156873	Chromatin interaction
ENSG00000262721	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000102870	Chromatin interaction
ENSG00000262026	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000150281	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000103549	Chromatin interaction
ENSG00000230447	Chromatin interaction
ENSG00000261487	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000099385	Chromatin interaction
ENSG00000196118	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000260083	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000211591	Chromatin interaction
ENSG00000265991	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000260899	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	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	nsv869652	chr16:30799471-30951038	Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers 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	70 gene(s)	inside rSNPs	diseases
9	nsv833189	chr16:30819708-30960795	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	79 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	esv3393315	chr16:30933876-30936424	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	n/a
20	esv3404052	chr16:30934501-30936049	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30932200-30936600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr16:30932600-30936000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr16:30932800-30935600	Active TSS	HUVEC	blood vessel
4	chr16:30932800-30935800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr16:30932800-30935800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr16:30932800-30935800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr16:30932800-30935800	Active TSS	Brain Hippocampus Middle	brain
8	chr16:30932800-30935800	Active TSS	Pancreas	Pancrea
9	chr16:30932800-30935800	Active TSS	Rectal Smooth Muscle	rectum
10	chr16:30932800-30935800	Active TSS	Thymus	Thymus
11	chr16:30932800-30936000	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr16:30932800-30936000	Active TSS	Brain Angular Gyrus	brain
13	chr16:30932800-30936000	Active TSS	Brain Cingulate Gyrus	brain
14	chr16:30932800-30936000	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr16:30932800-30936000	Active TSS	Fetal Brain Female	brain
16	chr16:30932800-30936000	Active TSS	Fetal Intestine Large	intestine
17	chr16:30932800-30936000	Active TSS	A549	lung
18	chr16:30932800-30936200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:30932800-30936200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr16:30932800-30936400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:30932800-30936400	Active TSS	Fetal Kidney	kidney
22	chr16:30932800-30936800	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr16:30932800-30936800	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr16:30932800-30936800	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr16:30932800-30936800	Active TSS	HSMM	muscle
26	chr16:30932800-30937000	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr16:30933000-30935400	Active TSS	Primary T cells from cord blood	blood
28	chr16:30933000-30935400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr16:30933000-30935600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr16:30933000-30935600	Active TSS	Colonic Mucosa	Colon
31	chr16:30933000-30935600	Active TSS	Gastric	stomach
32	chr16:30933000-30935600	Active TSS	Psoas Muscle	Psoas
33	chr16:30933000-30935600	Active TSS	Right Ventricle	heart
34	chr16:30933000-30935600	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr16:30933000-30935800	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr16:30933000-30935800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr16:30933000-30935800	Active TSS	Aorta	Aorta
38	chr16:30933000-30935800	Active TSS	Colon Smooth Muscle	Colon
39	chr16:30933000-30935800	Active TSS	Small Intestine	intestine
40	chr16:30933000-30935800	Active TSS	NHEK	skin
41	chr16:30933000-30936000	Active TSS	Fetal Intestine Small	intestine
42	chr16:30933000-30936000	Active TSS	Fetal Stomach	stomach
43	chr16:30933000-30936000	Active TSS	Left Ventricle	heart
44	chr16:30933000-30936000	Active TSS	Placenta Amnion	Placenta Amnion
45	chr16:30933000-30936200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:30933000-30936200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr16:30933000-30936200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr16:30933000-30936200	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr16:30933000-30936200	Active TSS	HSMMtube	muscle
50	chr16:30933000-30936400	Active TSS	Esophagus	oesophagus

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