Variant report

Variant	rs563611839
Chromosome Location	chr17:44849795-44849796
allele	G/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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:44847986..44850923-chr17:44874927..44876461,2	K562	blood:
2	chr17:44848371..44851556-chr17:44854343..44857073,3	MCF-7	breast:
3	chr17:44840766..44847017-chr17:44847800..44851001,9	MCF-7	breast:
4	chr17:44801247..44804412-chr17:44846741..44850099,3	K562	blood:
5	chr17:44843310..44845974-chr17:44848991..44851957,3	MCF-7	breast:
6	chr17:44848624..44851339-chr17:44893104..44896024,3	K562	blood:
7	chr17:44808673..44811660-chr17:44847775..44850081,2	K562	blood:
8	chr17:44846353..44850075-chr17:44870910..44874671,5	K562	blood:
9	chr17:44847668..44852830-chr17:44858394..44861796,5	MCF-7	breast:
10	chr17:44821369..44826185-chr17:44846753..44849990,6	K562	blood:
11	chr17:44848239..44850963-chr17:44871575..44873481,2	K562	blood:
12	chr17:44819607..44821857-chr17:44848285..44851793,3	MCF-7	breast:
13	chr17:44848565..44850557-chr17:44896605..44898581,4	K562	blood:
14	chr17:44804689..44809871-chr17:44845472..44850072,6	K562	blood:
15	chr17:44845867..44850393-chr17:44893846..44898781,9	K562	blood:
16	chr17:44836082..44838287-chr17:44847835..44850037,2	MCF-7	breast:
17	chr17:44848363..44849947-chr17:45003750..45005877,2	K562	blood:
18	chr17:44848344..44850894-chr17:44852175..44854837,4	MCF-7	breast:
19	chr17:44847670..44850061-chr17:44912249..44914668,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108379	Chromatin interaction
ENSG00000073969	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:44848000-44850000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr17:44848200-44849800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
3	chr17:44848200-44849800	Active TSS	HSMM	muscle
4	chr17:44848200-44849800	Active TSS	NHLF	lung
5	chr17:44848200-44850000	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr17:44848200-44850400	Active TSS	Brain Anterior Caudate	brain
7	chr17:44848400-44849800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:44848400-44849800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr17:44848400-44849800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr17:44848400-44849800	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr17:44848400-44849800	Active TSS	Primary T cells from cord blood	blood
12	chr17:44848400-44849800	Active TSS	Aorta	Aorta
13	chr17:44848400-44849800	Active TSS	Brain Substantia Nigra	brain
14	chr17:44848400-44849800	Active TSS	Colon Smooth Muscle	Colon
15	chr17:44848400-44849800	Weak transcription	Fetal Heart	heart
16	chr17:44848400-44849800	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr17:44848400-44849800	Active TSS	A549	lung
18	chr17:44848400-44849800	Active TSS	Hela-S3	cervix
19	chr17:44848400-44850000	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr17:44848400-44850000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr17:44848400-44850000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr17:44848400-44850200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr17:44848400-44850200	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr17:44848400-44850200	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr17:44848400-44850400	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr17:44848400-44850400	Active TSS	H9 Cell Line	embryonic stem cell
27	chr17:44848600-44849800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr17:44848600-44849800	Active TSS	Esophagus	oesophagus
29	chr17:44848600-44849800	Active TSS	Osteobl	bone
30	chr17:44848600-44850000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr17:44848600-44850200	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr17:44848600-44850200	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr17:44848800-44849800	Bivalent/Poised TSS	Thymus	Thymus
34	chr17:44848800-44850000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr17:44848800-44850000	Active TSS	Muscle Satellite Cultured Cells	--
36	chr17:44849400-44849800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr17:44849400-44849800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr17:44849400-44849800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
39	chr17:44849400-44849800	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr17:44849400-44849800	Bivalent/Poised TSS	Primary T helper naive cells from peripheral blood	blood
41	chr17:44849400-44849800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr17:44849400-44849800	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr17:44849400-44849800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
44	chr17:44849400-44849800	Flanking Active TSS	Ovary	ovary
45	chr17:44849400-44849800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
46	chr17:44849400-44849800	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
47	chr17:44849400-44849800	Flanking Active TSS	Right Atrium	heart
48	chr17:44849400-44849800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
49	chr17:44849400-44849800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
50	chr17:44849400-44849800	Bivalent Enhancer	Stomach Mucosa	stomach

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