Variant report

Variant	rs559176594
Chromosome Location	chr5:68857599-68857600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:68857584-68857808	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:68857490-68858100	GM12878	blood:	n/a	n/a
3	PAX5	chr5:68857009-68857637	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:68857496-68858156	SK-N-MC	brain:	n/a	n/a
5	POU2F2	chr5:68857497-68858134	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
GTF2H2C	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023116	chr5:68744307-68867282	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1034024	chr5:68760271-69118123	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription 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	15 gene(s)	inside rSNPs	diseases
3	esv1810743	chr5:68822324-68923795	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv916098	chr5:68824208-68902841	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv1805246	chr5:68825844-68923795	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv598425	chr5:68827069-68904678	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv881770	chr5:68827069-68915051	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	esv1808992	chr5:68827700-69181892	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv881771	chr5:68828296-68904678	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv968189	chr5:68829015-68919282	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
11	esv32846	chr5:68829015-69705591	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
12	esv17253	chr5:68829448-68927484	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
13	esv11562	chr5:68830039-69095305	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	nsv598428	chr5:68830068-68887862	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv598429	chr5:68830068-68898869	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
16	esv1805935	chr5:68830068-68906721	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
17	esv1813265	chr5:68830068-68911161	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
18	esv1822422	chr5:68830621-68861163	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
19	esv1818472	chr5:68830621-68867259	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
20	esv1806970	chr5:68830621-69172564	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
21	esv3496805	chr5:68831346-68930844	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
22	esv3496806	chr5:68831346-68930844	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
23	nsv598431	chr5:68832529-68900856	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
24	nsv598432	chr5:68832529-68906721	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription	TF binding region CpG island lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
25	esv1814966	chr5:68832957-68915974	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
26	nsv598440	chr5:68834042-68861530	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
27	nsv598441	chr5:68834042-68900856	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
28	nsv598442	chr5:68834042-68909623	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription	TF binding region CpG island lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
29	nsv598445	chr5:68835166-68918043	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
30	esv1815073	chr5:68835256-68894461	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
31	nsv598446	chr5:68835256-68904678	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
32	esv1805684	chr5:68835256-68909623	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
33	esv1815067	chr5:68835256-68909623	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
34	nsv598447	chr5:68835256-68945227	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
35	nsv598448	chr5:68835256-69269712	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
36	nsv598454	chr5:68840885-68879423	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
37	esv1810881	chr5:68842063-68918043	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
38	esv1810942	chr5:68842063-68918043	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
39	esv1804538	chr5:68843820-69174160	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
40	esv1807344	chr5:68849631-68911161	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
41	esv1009388	chr5:68850497-68913437	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
42	nsv598456	chr5:68850595-68906721	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
43	nsv471498	chr5:68851245-69320933	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
44	esv1807825	chr5:68856885-68913840	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68856200-68860000	Weak transcription	Gastric	stomach
2	chr5:68856200-68861200	Weak transcription	Lung	lung
3	chr5:68856200-68863800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:68856800-68859800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr5:68857000-68857600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:68857000-68857800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr5:68857000-68857800	Enhancers	Duodenum Mucosa	Duodenum
8	chr5:68857000-68857800	Enhancers	Psoas Muscle	Psoas
9	chr5:68857000-68858800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:68857000-68859200	Weak transcription	Spleen	Spleen
11	chr5:68857000-68859800	Weak transcription	Brain Anterior Caudate	brain
12	chr5:68857000-68859800	Weak transcription	NHDF-Ad	bronchial
13	chr5:68857000-68860000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:68857000-68860400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:68857000-68861200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:68857000-68861600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:68857000-68862000	Weak transcription	Fetal Intestine Large	intestine
18	chr5:68857000-68862800	Weak transcription	Fetal Stomach	stomach
19	chr5:68857000-68863200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:68857000-68863200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:68857000-68863600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:68857000-68863800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr5:68857000-68863800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:68857000-68863800	Weak transcription	Brain Hippocampus Middle	brain
25	chr5:68857000-68863800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr5:68857000-68863800	Weak transcription	Ovary	ovary
27	chr5:68857000-68863800	Weak transcription	HSMM	muscle
28	chr5:68857000-68864000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:68857000-68864000	Weak transcription	Adipose Nuclei	Adipose
30	chr5:68857000-68864000	Weak transcription	Fetal Muscle Leg	muscle
31	chr5:68857000-68864800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:68857000-68865000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:68857000-68865600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:68857000-68865600	Weak transcription	NHEK	skin
35	chr5:68857000-68865600	Weak transcription	Osteobl	bone
36	chr5:68857000-68865800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:68857000-68865800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr5:68857000-68865800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:68857000-68865800	Weak transcription	Liver	Liver
40	chr5:68857000-68866000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr5:68857000-68866200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr5:68857000-68866200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr5:68857000-68868000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr5:68857000-68869600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr5:68857000-68869800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:68857000-68870000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:68857000-68870200	Weak transcription	Fetal Intestine Small	intestine
48	chr5:68857000-68870600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr5:68857000-68870600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr5:68857000-68878200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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