Variant report

Variant	rs173648
Chromosome Location	chr5:50265434-50265435
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	SIN3A	chr5:50264730-50265502	H1-hESC	embryonic stem cell:	n/a	n/a
2	SUZ12	chr5:50262485-50266469	NT2-D1	testis:	n/a	n/a
3	JUND	chr5:50265377-50265557	H1-hESC	embryonic stem cell:	n/a	n/a
4	YY1	chr5:50265135-50265457	H1-hESC	embryonic stem cell:	n/a	n/a
5	GATA2	chr5:50263552-50266094	SH-SY5Y	brain:	n/a	chr5:50264176-50264197 chr5:50264179-50264195 chr5:50264183-50264192 chr5:50264183-50264192 chr5:50264164-50264171 chr5:50263968-50263975 chr5:50264179-50264195 chr5:50264859-50264868 chr5:50264182-50264192 chr5:50266034-50266043
6	MAX	chr5:50265036-50265603	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr5:50264751-50265788	H1-neurons	neurons:	n/a	n/a
8	MAX	chr5:50265049-50265587	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr5:50265035-50265522	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTBP2	chr5:50265045-50266075	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZNF143	chr5:50265228-50265489	H1-hESC	embryonic stem cell:	n/a	chr5:50265438-50265456
12	REST	chr5:50265029-50265544	SK-N-SH	brain:	n/a	chr5:50265442-50265452
13	E2F6	chr5:50264955-50265741	H1-hESC	embryonic stem cell:	n/a	n/a
14	REST	chr5:50261713-50266474	H1-neurons	neurons:	n/a	chr5:50264435-50264449 chr5:50264118-50264138 chr5:50264118-50264138 chr5:50265442-50265452 chr5:50264121-50264134
15	POLR2A	chr5:50264923-50266294	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
ENSG00000248918	TF binding region
ENSG00000250360	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1354171	0.81[AFR][1000 genomes]
rs1374037	1.00[AMR][1000 genomes]
rs185136	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs192223	0.93[AFR][1000 genomes]
rs1993954	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs250225	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs250226	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs250227	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs250228	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs250231	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs250232	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs250235	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs250239	0.87[AFR][1000 genomes]
rs250240	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs250241	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs250242	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs250243	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs27276	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs31714	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs583124	0.83[AFR][1000 genomes]
rs583125	0.91[AFR][1000 genomes]
rs589372	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs602484	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs614328	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs630982	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs679678	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034445	chr5:49986171-50492609	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv598116	chr5:50064292-50318550	Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv830286	chr5:50165805-50374600	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50258600-50266600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr5:50261400-50266400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr5:50261400-50266400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr5:50262600-50266000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
5	chr5:50262600-50266200	Bivalent/Poised TSS	Fetal Stomach	stomach
6	chr5:50262800-50266200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
7	chr5:50263000-50266000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
8	chr5:50263000-50266000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
9	chr5:50263200-50265600	Active TSS	Stomach Smooth Muscle	stomach
10	chr5:50263200-50265800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
11	chr5:50263200-50265800	Bivalent Enhancer	Fetal Heart	heart
12	chr5:50263200-50266000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
13	chr5:50263200-50266000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
14	chr5:50263400-50265600	Bivalent/Poised TSS	Aorta	Aorta
15	chr5:50263400-50265800	Bivalent Enhancer	Fetal Brain Male	brain
16	chr5:50263400-50265800	Active TSS	Gastric	stomach
17	chr5:50263400-50266000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:50263600-50266000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr5:50263600-50266000	Bivalent Enhancer	Fetal Lung	lung
20	chr5:50263800-50265600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:50263800-50265600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
22	chr5:50263800-50265600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
23	chr5:50263800-50265800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr5:50263800-50265800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
25	chr5:50263800-50266000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr5:50263800-50266000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
27	chr5:50263800-50266000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
28	chr5:50263800-50266200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr5:50263800-50266400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
30	chr5:50264000-50266000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
31	chr5:50264000-50266000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
32	chr5:50264200-50265600	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
33	chr5:50264200-50266000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:50264200-50266000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:50264200-50266000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
36	chr5:50264400-50265600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
37	chr5:50264400-50265800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
38	chr5:50264400-50266000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:50264400-50266000	Bivalent Enhancer	Primary T cells from cord blood	blood
40	chr5:50264400-50266000	Bivalent Enhancer	Spleen	Spleen
41	chr5:50264600-50265800	Bivalent/Poised TSS	Colonic Mucosa	Colon
42	chr5:50264600-50265800	Bivalent/Poised TSS	Right Ventricle	heart
43	chr5:50264600-50265800	Bivalent Enhancer	HMEC	breast
44	chr5:50264600-50266200	Bivalent/Poised TSS	Fetal Thymus	thymus
45	chr5:50264800-50265800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:50264800-50265800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr5:50264800-50265800	Flanking Bivalent TSS/Enh	Placenta	Placenta
48	chr5:50264800-50265800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
49	chr5:50264800-50266000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:50264800-50266000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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