Variant report

Variant	rs552475548
Chromosome Location	chr17:44842310-44842311
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:44267872..44270663-chr17:44839838..44842513,2	K562	blood:
2	chr17:44841367..44842987-chr17:44894656..44897026,2	K562	blood:
3	chr17:44812780..44815644-chr17:44839923..44842823,2	K562	blood:
4	chr17:44839344..44841120-chr17:44841937..44843876,2	K562	blood:
5	chr17:44841770..44845110-chr17:44871532..44873744,3	K562	blood:
6	chr17:44840766..44847017-chr17:44847800..44851001,9	MCF-7	breast:
7	chr17:44840704..44842981-chr17:44847991..44849653,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108379	Chromatin interaction
ENSG00000120071	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:32 , 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	esv1792649	chr17:44627136-44849634	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
18	esv1820936	chr17:44629166-44848916	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
19	esv1812673	chr17:44648058-44849188	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS 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	15 gene(s)	inside rSNPs	diseases
20	esv1818423	chr17:44648058-44849634	Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
21	esv1805955	chr17:44654416-44849188	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats 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	15 gene(s)	inside rSNPs	diseases
22	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
23	esv1796587	chr17:44680207-44849634	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active 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
24	esv1803101	chr17:44680207-44849634	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active 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
25	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
26	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
27	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
28	esv1810528	chr17:44814884-44849634	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
29	esv1845488	chr17:44816132-44849634	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
30	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
31	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
32	esv1846002	chr17:44841209-44849188	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:44820600-44844400	Weak transcription	Small Intestine	intestine
2	chr17:44828400-44847800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:44829600-44844000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr17:44829800-44848000	Weak transcription	Fetal Kidney	kidney
5	chr17:44832400-44847800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr17:44833600-44842400	Weak transcription	Brain Anterior Caudate	brain
7	chr17:44834000-44846800	Weak transcription	Ovary	ovary
8	chr17:44834400-44846400	Strong transcription	Fetal Intestine Small	intestine
9	chr17:44834600-44842600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr17:44834600-44843800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr17:44834600-44846400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr17:44834600-44847200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr17:44834600-44848000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr17:44834600-44848400	Weak transcription	Aorta	Aorta
15	chr17:44834800-44842400	Weak transcription	HSMMtube	muscle
16	chr17:44834800-44847000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr17:44834800-44847800	Weak transcription	Dnd41	blood
18	chr17:44835000-44846800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr17:44836400-44842600	Weak transcription	Placenta	Placenta
20	chr17:44836400-44846800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:44837000-44842400	Weak transcription	Stomach Mucosa	stomach
22	chr17:44837200-44843000	Weak transcription	Thymus	Thymus
23	chr17:44837200-44844200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr17:44837400-44843600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr17:44837400-44846800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr17:44837400-44846800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr17:44837600-44842600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr17:44837600-44843200	Weak transcription	Primary T cells from cord blood	blood
29	chr17:44837600-44843400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr17:44837600-44846800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr17:44839000-44844800	Strong transcription	Fetal Stomach	stomach
32	chr17:44839400-44846800	Weak transcription	Primary B cells from cord blood	blood
33	chr17:44840400-44843200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr17:44840400-44843400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr17:44840600-44842400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr17:44840600-44843000	Enhancers	NHDF-Ad	bronchial
37	chr17:44840600-44843200	Enhancers	NHEK	skin
38	chr17:44840600-44843400	Enhancers	HUVEC	blood vessel
39	chr17:44840800-44843200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr17:44841000-44843200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr17:44841000-44843200	Enhancers	NH-A	brain
42	chr17:44841200-44843200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr17:44841200-44845000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr17:44841400-44843200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr17:44841400-44843200	Enhancers	Lung	lung
46	chr17:44841400-44843400	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr17:44841400-44844600	Enhancers	Brain Germinal Matrix	brain
48	chr17:44841400-44845800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr17:44841600-44842600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
50	chr17:44841600-44842800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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