Variant report

Variant	rs540950462
Chromosome Location	chr16:30711843-30711844
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr16:30708677-30712360	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr16:30711826-30712267	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:30455606..30458021-chr16:30708271..30711860,5	K562	blood:
2	chr16:30667783..30674540-chr16:30707310..30714065,38	K562	blood:
3	chr16:30369886..30371566-chr16:30709184..30711888,2	MCF-7	breast:
4	chr16:30708426..30712348-chr16:30772033..30775384,7	MCF-7	breast:
5	chr16:30537208..30540827-chr16:30710007..30712078,3	MCF-7	breast:
6	chr16:30537007..30539690-chr16:30709715..30713303,3	K562	blood:
7	chr16:30123424..30125904-chr16:30709036..30711969,2	K562	blood:
8	chr16:30708929..30712034-chr16:30758251..30761730,4	K562	blood:
9	chr16:30707422..30715768-chr16:30721242..30729414,24	MCF-7	breast:
10	chr16:30708356..30712729-chr16:30907440..30911095,7	K562	blood:
11	chr16:30707234..30713291-chr16:30747398..30755461,17	MCF-7	breast:
12	chr16:30660775..30663969-chr16:30709456..30712373,8	K562	blood:
13	chr16:30707181..30712037-chr16:30757231..30762842,12	MCF-7	breast:
14	chr16:30710639..30712268-chr16:30903660..30905594,2	MCF-7	breast:
15	chr16:30678548..30685862-chr16:30707986..30712280,7	K562	blood:
16	chr16:30709802..30712559-chr16:30757474..30761628,7	MCF-7	breast:
17	chr16:30710536..30712181-chr16:30733046..30734815,2	K562	blood:
18	chr16:30708001..30712248-chr16:30758568..30761366,5	K562	blood:
19	chr16:30707557..30712450-chr16:30785751..30791890,10	K562	blood:
20	chr16:30665738..30673826-chr16:30707321..30713630,33	K562	blood:
21	chr16:30665347..30684079-chr16:30697204..30714344,66	MCF-7	breast:
22	chr16:30667507..30674392-chr16:30704170..30712522,40	MCF-7	breast:
23	chr16:30708138..30712367-chr16:30742355..30746018,6	K562	blood:
24	chr16:30709744..30712013-chr16:30968880..30970502,2	MCF-7	breast:
25	chr16:30708170..30712232-chr16:30770048..30773747,7	MCF-7	breast:
26	chr16:30707689..30714423-chr16:30749050..30754714,18	MCF-7	breast:
27	chr16:30708936..30712121-chr16:30967511..30970972,5	K562	blood:
28	chr16:30708760..30712474-chr16:30717976..30728042,17	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261840	TF binding region
SRCAP	TF binding region
ENSG00000103549	Chromatin interaction
ENSG00000099385	Chromatin interaction
ENSG00000150281	Chromatin interaction
ENSG00000211591	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000262026	Chromatin interaction
ENSG00000169957	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000156873	Chromatin interaction
ENSG00000260899	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000196118	Chromatin interaction
ENSG00000102886	Chromatin interaction
ENSG00000169221	Chromatin interaction
ENSG00000206755	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
4	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	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
7	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	esv33681	chr16:30711208-30714408	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	33 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	chr16:30711000-30712000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:30711000-30712000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:30711000-30712000	Enhancers	Primary hematopoietic stem cells	blood
4	chr16:30711000-30712000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
5	chr16:30711000-30712000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr16:30711000-30712000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
7	chr16:30711000-30712200	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr16:30711000-30712200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr16:30711000-30712200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
10	chr16:30711000-30712200	Genic enhancers	Spleen	Spleen
11	chr16:30711000-30712200	Transcr. at gene 5' and 3'	Hela-S3	cervix
12	chr16:30711000-30712200	Transcr. at gene 5' and 3'	HepG2	liver
13	chr16:30711000-30712400	Transcr. at gene 5' and 3'	A549	lung
14	chr16:30711200-30712000	Transcr. at gene 5' and 3'	Right Ventricle	heart
15	chr16:30711200-30712200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr16:30711200-30712200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr16:30711200-30712200	Genic enhancers	Primary monocytes fromperipheralblood	blood
18	chr16:30711200-30712200	Genic enhancers	Primary B cells from peripheral blood	blood
19	chr16:30711200-30712200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr16:30711200-30712200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr16:30711200-30712200	Genic enhancers	Brain Inferior Temporal Lobe	brain
22	chr16:30711200-30712200	Genic enhancers	Brain Substantia Nigra	brain
23	chr16:30711200-30712200	Genic enhancers	Colon Smooth Muscle	Colon
24	chr16:30711200-30712200	Genic enhancers	Fetal Brain Male	brain
25	chr16:30711200-30712200	Genic enhancers	Fetal Muscle Trunk	muscle
26	chr16:30711200-30712200	Genic enhancers	Placenta	Placenta
27	chr16:30711200-30712200	Genic enhancers	Fetal Stomach	stomach
28	chr16:30711200-30712200	Genic enhancers	Fetal Thymus	thymus
29	chr16:30711200-30712400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr16:30711200-30712400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr16:30711200-30712400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr16:30711200-30712400	Genic enhancers	Fetal Muscle Leg	muscle
33	chr16:30711400-30712000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr16:30711400-30712000	Enhancers	Colonic Mucosa	Colon
35	chr16:30711400-30712000	Weak transcription	Lung	lung
36	chr16:30711400-30712000	Enhancers	Pancreas	Pancrea
37	chr16:30711400-30712200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
38	chr16:30711400-30712200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
39	chr16:30711400-30712200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr16:30711400-30712200	Genic enhancers	Adipose Nuclei	Adipose
41	chr16:30711400-30712200	Genic enhancers	Duodenum Smooth Muscle	Duodenum
42	chr16:30711400-30712200	Genic enhancers	Psoas Muscle	Psoas
43	chr16:30711400-30712400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr16:30711400-30712400	Genic enhancers	Left Ventricle	heart
45	chr16:30711400-30712600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr16:30711400-30712600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr16:30711400-30712600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr16:30711400-30712600	Transcr. at gene 5' and 3'	HSMM	muscle
49	chr16:30711400-30712600	Transcr. at gene 5' and 3'	K562	blood
50	chr16:30711400-30712800	Genic enhancers	Brain Anterior Caudate	brain

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