Variant report

Variant	rs638814
Chromosome Location	chr1:158174114-158174115
allele	G/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	CTCF	chr1:158174060-158174210	SAEC	small airway:	n/a	n/a
2	SMC3	chr1:158173509-158174349	Hela-S3	cervix:	n/a	chr1:158173791-158173805
3	GATA1	chr1:158173336-158174119	PBDE	blood:	n/a	chr1:158173535-158173556 chr1:158173542-158173549 chr1:158173539-158173549 chr1:158173542-158173549 chr1:158173542-158173549
4	CTCF	chr1:158174100-158174250	SK-N-SH_RA	brain:	n/a	n/a
5	RAD21	chr1:158173489-158174133	HCT-116	colon:	n/a	chr1:158173790-158173809 chr1:158173791-158173800
6	CTCF	chr1:158174100-158174250	GM12866	blood:	n/a	n/a
7	SIN3AK20	chr1:158173543-158174147	MCF-7	breast:	n/a	n/a
8	CTCF	chr1:158174040-158174190	GM12874	blood:	n/a	n/a
9	RAD21	chr1:158173455-158174194	SK-N-SH	brain:	n/a	chr1:158173790-158173809 chr1:158173791-158173800
10	CTCF	chr1:158174057-158174165	Gliobla	brain:	n/a	n/a
11	CTCF	chr1:158174038-158174140	GM13977	blood:	n/a	n/a
12	MAFK	chr1:158173952-158174219	HepG2	liver:	n/a	n/a
13	WRNIP1	chr1:158173783-158174248	GM12878	blood:	n/a	n/a
14	CTCF	chr1:158174080-158174230	HVMF	connective:	n/a	n/a
15	CTCF	chr1:158174040-158174190	Caco-2	colon:	n/a	n/a
16	CTCF	chr1:158173332-158174240	A549	lung:	n/a	chr1:158173789-158173807 chr1:158173792-158173805 chr1:158173793-158173800 chr1:158173790-158173806 chr1:158173791-158173812
17	CTCF	chr1:158174100-158174250	HUVEC	blood vessel:	n/a	n/a
18	SMC3	chr1:158173622-158174396	GM12878	blood:	n/a	chr1:158173791-158173805
19	RAD21	chr1:158173474-158174160	H1-hESC	embryonic stem cell:	n/a	chr1:158173790-158173809 chr1:158173791-158173800
20	CTCF	chr1:158173381-158174223	SK-N-SH	brain:	n/a	chr1:158173789-158173807 chr1:158173792-158173805 chr1:158173793-158173800 chr1:158173790-158173806 chr1:158173791-158173812
21	CTCF	chr1:158174080-158174230	AG04450	lung:	n/a	n/a
22	SMC3	chr1:158173381-158174204	SK-N-SH	brain:	n/a	chr1:158173791-158173805
23	CTCF	chr1:158174020-158174170	HPAF	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000176320	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10908630	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs382436	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs387525	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs388861	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs398012	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs400214	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs406739	0.83[ASN][1000 genomes]
rs416989	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs440153	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs450125	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs691175	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999542	chr1:158015715-158368132	Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv872479	chr1:158118787-158484285	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872480	chr1:158153526-158450238	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv13585	chr1:158159222-158214160	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1814455	chr1:158160528-158200312	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv508626	chr1:158161932-158242158	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158172400-158174200	Active TSS	Thymus	Thymus
2	chr1:158173400-158174200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
3	chr1:158173400-158174200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr1:158173400-158174200	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr1:158173400-158174400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
6	chr1:158173400-158174600	Enhancers	Primary B cells from peripheral blood	blood
7	chr1:158173400-158174600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:158173600-158174200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:158173600-158174400	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr1:158173600-158174400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:158173600-158174400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr1:158173800-158174200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:158173800-158174200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr1:158173800-158174200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr1:158173800-158174400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr1:158173800-158174400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr1:158173800-158174400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr1:158173800-158174600	Flanking Active TSS	Fetal Thymus	thymus
19	chr1:158173800-158175400	Flanking Active TSS	Dnd41	blood
20	chr1:158173800-158178200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:158173800-158178200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:158173800-158178400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:158174000-158174200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr1:158174000-158174200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr1:158174000-158174400	Enhancers	Primary B cells from cord blood	blood
26	chr1:158174000-158174600	Bivalent Enhancer	HUVEC	blood vessel

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