Variant report

Variant	rs373318791
Chromosome Location	chr17:44814969-44814970
allele	-/TT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:44812780..44815644-chr17:44839923..44842823,2	K562	blood:
2	chr17:44813669..44815710-chr17:44826122..44828858,2	K562	blood:
3	chr17:44808203..44811071-chr17:44813381..44816398,3	K562	blood:
4	chr17:44809047..44811071-chr17:44813381..44815876,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:35 , 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	nsv431730	chr17:44144214-44826056	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	nsv543371	chr17:44223908-44820220	Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv543374	chr17:44223908-44824353	Genic enhancers Enhancers Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	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
12	nsv529542	chr17:44305975-44820329	Bivalent Enhancer Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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
16	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
17	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
18	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
19	nsv529596	chr17:44485771-44820329	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	nsv471402	chr17:44668038-44834833	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
29	esv1812148	chr17:44680207-44816132	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
30	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
31	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
32	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
33	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
34	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
35	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

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:44780800-44835200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr17:44786600-44827800	Weak transcription	Brain Hippocampus Middle	brain
3	chr17:44788800-44820000	Weak transcription	Small Intestine	intestine
4	chr17:44789200-44833200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr17:44791400-44828800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr17:44792000-44826400	Weak transcription	Placenta	Placenta
7	chr17:44792600-44829200	Weak transcription	Brain Germinal Matrix	brain
8	chr17:44792800-44828800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr17:44793600-44842200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr17:44795600-44820000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:44795600-44820000	Weak transcription	Esophagus	oesophagus
12	chr17:44795600-44828600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr17:44798000-44828800	Weak transcription	Brain Anterior Caudate	brain
14	chr17:44798400-44820000	Weak transcription	Fetal Lung	lung
15	chr17:44798600-44832400	Weak transcription	Psoas Muscle	Psoas
16	chr17:44798600-44833200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:44798600-44833200	Weak transcription	Gastric	stomach
18	chr17:44798600-44841800	Weak transcription	Right Ventricle	heart
19	chr17:44798800-44827000	Weak transcription	Colonic Mucosa	Colon
20	chr17:44798800-44828800	Weak transcription	Brain Angular Gyrus	brain
21	chr17:44800000-44828800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr17:44800200-44828600	Weak transcription	Ovary	ovary
23	chr17:44800400-44819200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:44800600-44828800	Weak transcription	Fetal Kidney	kidney
25	chr17:44802400-44828800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr17:44803600-44825800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr17:44805600-44816800	Weak transcription	Fetal Intestine Small	intestine
28	chr17:44805600-44827400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr17:44805800-44828000	Weak transcription	HepG2	liver
30	chr17:44806000-44818400	Weak transcription	Fetal Intestine Large	intestine
31	chr17:44808600-44819600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr17:44808600-44826600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr17:44808600-44827800	Weak transcription	Liver	Liver
34	chr17:44808800-44819800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr17:44808800-44826600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr17:44809400-44819000	Weak transcription	Fetal Heart	heart
37	chr17:44810400-44827200	Weak transcription	Fetal Thymus	thymus
38	chr17:44810600-44820400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr17:44810800-44815400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr17:44810800-44816800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr17:44810800-44819800	Weak transcription	Adipose Nuclei	Adipose
42	chr17:44810800-44828000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr17:44811000-44816000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr17:44811000-44819600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr17:44811000-44819800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr17:44811000-44819800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr17:44811000-44819800	Weak transcription	HSMMtube	muscle
48	chr17:44811000-44820000	Weak transcription	Lung	lung
49	chr17:44811000-44820200	Weak transcription	Pancreas	Pancrea
50	chr17:44811000-44829200	Weak transcription	Aorta	Aorta

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