Variant report

Variant	rs550745110
Chromosome Location	chr17:44850184-44850185
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:44847986..44850923-chr17:44874927..44876461,2	K562	blood:
2	chr17:44849798..44852419-chr17:44925909..44928191,2	K562	blood:
3	chr17:44848371..44851556-chr17:44854343..44857073,3	MCF-7	breast:
4	chr17:44840766..44847017-chr17:44847800..44851001,9	MCF-7	breast:
5	chr17:44843310..44845974-chr17:44848991..44851957,3	MCF-7	breast:
6	chr17:44848624..44851339-chr17:44893104..44896024,3	K562	blood:
7	chr17:44847668..44852830-chr17:44858394..44861796,5	MCF-7	breast:
8	chr17:44848239..44850963-chr17:44871575..44873481,2	K562	blood:
9	chr17:44819607..44821857-chr17:44848285..44851793,3	MCF-7	breast:
10	chr17:44848565..44850557-chr17:44896605..44898581,4	K562	blood:
11	chr17:44845867..44850393-chr17:44893846..44898781,9	K562	blood:
12	chr17:44848344..44850894-chr17:44852175..44854837,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108379	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431716	chr17:43893020-44868187	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv431718	chr17:44094463-44873614	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv431729	chr17:44144214-44869063	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv2757660	chr17:44162284-44868187	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv431805	chr17:44165803-44868430	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
7	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
8	nsv916432	chr17:44223908-44873614	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
10	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
11	esv1819056	chr17:44391822-44873614	Enhancers Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	esv1844763	chr17:44391822-44913631	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv428343	chr17:44391822-44913631	Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	esv1806073	chr17:44443111-44873614	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
15	nsv531823	chr17:44485771-45067769	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
16	esv1850605	chr17:44537030-44913631	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
17	esv1818944	chr17:44662268-44859144	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
18	esv1803756	chr17:44680207-44865439	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
19	nsv833465	chr17:44706496-44889749	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
20	esv1843460	chr17:44732200-44913631	Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
21	nsv908562	chr17:44828931-45102413	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
22	nsv949295	chr17:44836653-45080757	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
23	esv3377791	chr17:44848009-44850562	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
24	esv3373464	chr17:44848134-44850337	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
25	esv1807468	chr17:44848517-44865439	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:44848200-44850400	Active TSS	Brain Anterior Caudate	brain
2	chr17:44848400-44850200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr17:44848400-44850200	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr17:44848400-44850200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr17:44848400-44850400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr17:44848400-44850400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr17:44848600-44850200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr17:44848600-44850200	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr17:44849400-44850200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
10	chr17:44849600-44850200	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
11	chr17:44849600-44850200	Flanking Active TSS	Liver	Liver
12	chr17:44849600-44850200	Flanking Active TSS	NHEK	skin
13	chr17:44849600-44850600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr17:44849800-44850200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr17:44849800-44850200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr17:44849800-44850400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr17:44849800-44850400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
18	chr17:44849800-44850400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
19	chr17:44849800-44850400	Enhancers	Lung	lung
20	chr17:44849800-44850400	Flanking Active TSS	Hela-S3	cervix
21	chr17:44849800-44850600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
22	chr17:44849800-44850600	Enhancers	Fetal Heart	heart
23	chr17:44849800-44850600	Enhancers	Fetal Lung	lung
24	chr17:44849800-44850600	Enhancers	Spleen	Spleen
25	chr17:44849800-44850800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
26	chr17:44849800-44850800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
27	chr17:44849800-44851800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr17:44849800-44852200	Weak transcription	NHLF	lung
29	chr17:44849800-44856800	Weak transcription	Right Atrium	heart
30	chr17:44850000-44850200	Active TSS	H1 Cell Line	embryonic stem cell
31	chr17:44850000-44850200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
32	chr17:44850000-44850200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr17:44850000-44850200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
34	chr17:44850000-44850200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr17:44850000-44850200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr17:44850000-44850200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr17:44850000-44850200	Bivalent Enhancer	Brain Germinal Matrix	brain
38	chr17:44850000-44850400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:44850000-44850400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr17:44850000-44850400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
41	chr17:44850000-44850400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr17:44850000-44850400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr17:44850000-44850400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr17:44850000-44850600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr17:44850000-44850600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr17:44850000-44850600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr17:44850000-44850600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
48	chr17:44850000-44850600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
49	chr17:44850000-44850600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr17:44850000-44850600	Enhancers	Duodenum Mucosa	Duodenum

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