Variant report

Variant	rs4588617
Chromosome Location	chr5:118472392-118472393
allele	C/G
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	E2F6	chr5:118472110-118472869	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr5:118472328-118472910	GM12891	blood:	n/a	n/a
3	POLR2A	chr5:118472216-118472910	GM12891	blood:	n/a	n/a
4	KAP1	chr5:118472381-118472685	K562	blood:	n/a	n/a
5	POLR2A	chr5:118472366-118472473	H1-hESC	embryonic stem cell:	n/a	n/a
6	CBX3	chr5:118472387-118472685	K562	blood:	n/a	n/a
7	SETDB1	chr5:118472292-118472827	K562	blood:	n/a	n/a
8	CBX3	chr5:118472322-118472731	K562	blood:	n/a	n/a
9	POLR2A	chr5:118472259-118477661	K562	blood:	n/a	n/a
10	POLR2A	chr5:118472222-118472872	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118465720..118469192-chr5:118469871..118473875,5	K562	blood:

Variant related genes	Relation type
LAMTOR3P2	TF binding region
RNU6-701P	TF binding region
ENSG00000248979	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11241484	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11959739	0.90[EUR][1000 genomes]
rs12719254	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4243445	0.91[EUR][1000 genomes]
rs4576176	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895361	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595175	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595177	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6860432	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6896024	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327090	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118412200-118522800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:118438600-118484400	Weak transcription	NHLF	lung
3	chr5:118447400-118485400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:118450400-118496800	Weak transcription	Stomach Mucosa	stomach
5	chr5:118451200-118533400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:118452800-118472400	Weak transcription	Hela-S3	cervix
7	chr5:118453000-118472400	Weak transcription	Psoas Muscle	Psoas
8	chr5:118453800-118522800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr5:118456800-118483200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:118456800-118484600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr5:118464000-118473400	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr5:118465600-118483000	Weak transcription	HUVEC	blood vessel
13	chr5:118465800-118472400	Weak transcription	Brain Anterior Caudate	brain
14	chr5:118465800-118472400	Weak transcription	Fetal Brain Male	brain
15	chr5:118467800-118473400	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr5:118468400-118473000	Strong transcription	Left Ventricle	heart
17	chr5:118468400-118473800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:118468600-118472400	Strong transcription	Liver	Liver
19	chr5:118468600-118473200	Strong transcription	Fetal Kidney	kidney
20	chr5:118468600-118474000	Strong transcription	Primary T cells from cord blood	blood
21	chr5:118468600-118474000	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:118468800-118473400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:118468800-118476800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:118469000-118473800	ZNF genes & repeats	GM12878-XiMat	blood
25	chr5:118469200-118475600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr5:118469200-118476600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
27	chr5:118469200-118483600	Weak transcription	Fetal Heart	heart
28	chr5:118469400-118473400	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:118469400-118482200	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr5:118469600-118475600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
31	chr5:118469600-118476400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr5:118469800-118472400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr5:118469800-118472400	Weak transcription	HSMMtube	muscle
34	chr5:118469800-118482200	Weak transcription	HSMM	muscle
35	chr5:118469800-118484400	Weak transcription	NHDF-Ad	bronchial
36	chr5:118470000-118503200	Weak transcription	NH-A	brain
37	chr5:118470400-118473600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr5:118470400-118473600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:118470400-118474000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:118470400-118476000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
41	chr5:118470400-118476800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
42	chr5:118470600-118472600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
43	chr5:118470600-118473200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr5:118470600-118473400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
45	chr5:118470600-118473800	ZNF genes & repeats	Primary B cells from cord blood	blood
46	chr5:118470600-118474000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:118470600-118474000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:118470600-118474400	ZNF genes & repeats	Fetal Intestine Small	intestine
49	chr5:118470600-118475600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
50	chr5:118470800-118472800	ZNF genes & repeats	Fetal Intestine Large	intestine

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