Variant report

Variant	rs790060
Chromosome Location	chr1:160921208-160921209
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	EP300	chr1:160921182-160921451	K562	blood:	n/a	n/a
2	RAD21	chr1:160921113-160921520	HepG2	liver:	n/a	chr1:160921343-160921357
3	CTCF	chr1:160921095-160921501	HepG2	liver:	n/a	chr1:160921342-160921358 chr1:160921357-160921370 chr1:160921341-160921359
4	CTCF	chr1:160921171-160921501	K562	blood:	n/a	chr1:160921342-160921358 chr1:160921357-160921370 chr1:160921341-160921359
5	RAD21	chr1:160921164-160921525	IMR90	lung:	n/a	chr1:160921343-160921357
6	CTCF	chr1:160921025-160921512	A549	lung:	n/a	chr1:160921342-160921358 chr1:160921357-160921370 chr1:160921341-160921359
7	CTCF	chr1:160921126-160921519	T-47D	breast:	n/a	chr1:160921342-160921358 chr1:160921357-160921370 chr1:160921341-160921359
8	CTCF	chr1:160921149-160921464	A549	lung:	n/a	chr1:160921342-160921358 chr1:160921357-160921370 chr1:160921341-160921359
9	RAD21	chr1:160921175-160921578	H1-hESC	embryonic stem cell:	n/a	chr1:160921343-160921357
10	RAD21	chr1:160921010-160921605	H1-hESC	embryonic stem cell:	n/a	chr1:160921343-160921357
11	RAD21	chr1:160921074-160921639	HCT-116	colon:	n/a	chr1:160921343-160921357
12	YY1	chr1:160921149-160921461	GM12878	blood:	n/a	n/a
13	SMC3	chr1:160921112-160921669	SK-N-SH	brain:	n/a	chr1:160921343-160921357
14	MAX	chr1:160921132-160921588	MCF-7	breast:	n/a	n/a
15	WRNIP1	chr1:160921203-160921672	GM12878	blood:	n/a	n/a
16	NRF1	chr1:160921202-160921521	GM12878	blood:	n/a	n/a
17	CTCF	chr1:160921118-160921557	MCF-7	breast:	n/a	chr1:160921342-160921358 chr1:160921357-160921370 chr1:160921341-160921359
18	GATA2	chr1:160921121-160921544	SH-SY5Y	brain:	n/a	n/a
19	ZNF143	chr1:160921175-160921522	GM12878	blood:	n/a	n/a
20	CTCF	chr1:160921201-160921507	Spleen_OC	spleen:	n/a	chr1:160921342-160921358 chr1:160921357-160921370 chr1:160921341-160921359
21	CTCF	chr1:160921193-160921526	GM12878	blood:	n/a	chr1:160921342-160921358 chr1:160921357-160921370 chr1:160921341-160921359
22	RAD21	chr1:160921094-160921594	ECC-1	luminal epithelium:	n/a	chr1:160921343-160921357
23	ZNF384	chr1:160921199-160921476	GM12878	blood:	n/a	n/a
24	RAD21	chr1:160921157-160921503	SK-N-SH_RA	brain:	n/a	chr1:160921343-160921357
25	ZNF143	chr1:160921179-160921537	K562	blood:	n/a	n/a
26	CTCF	chr1:160921051-160921510	MCF-7	breast:	n/a	chr1:160921342-160921358 chr1:160921357-160921370 chr1:160921341-160921359
27	GATA3	chr1:160921098-160921597	T-47D	breast:	n/a	n/a
28	BHLHE40	chr1:160921203-160921518	K562	blood:	n/a	n/a
29	GATA2	chr1:160921059-160921554	K562	blood:	n/a	n/a
30	MAX	chr1:160921202-160921437	Hela-S3	cervix:	n/a	n/a
31	BHLHE40	chr1:160921194-160921489	GM12878	blood:	n/a	n/a
32	GATA2	chr1:160921124-160921744	HUVEC	blood vessel:	n/a	n/a
33	GATA3	chr1:160921015-160921572	T-47D	breast:	n/a	n/a
34	RAD21	chr1:160921010-160921652	MCF-7	breast:	n/a	chr1:160921343-160921357
35	CTCF	chr1:160921186-160921504	ECC-1	luminal epithelium:	n/a	chr1:160921342-160921358 chr1:160921357-160921370 chr1:160921341-160921359
36	CTCF	chr1:160921200-160921350	HCT-116	colon:	n/a	n/a
37	CTCF	chr1:160921187-160921499	Medullo	brain:	n/a	chr1:160921342-160921358 chr1:160921357-160921370 chr1:160921341-160921359
38	ZNF143	chr1:160921204-160921525	H1-hESC	embryonic stem cell:	n/a	n/a
39	GATA2	chr1:160921116-160921494	K562	blood:	n/a	n/a
40	GATA1	chr1:160921145-160921431	PBDEFetal	blood:	n/a	n/a
41	CTCF	chr1:160921120-160921270	HAc	cerebellar:	n/a	n/a
42	SMC3	chr1:160921161-160921579	Hela-S3	cervix:	n/a	chr1:160921343-160921357
43	SMC3	chr1:160921165-160921561	K562	blood:	n/a	chr1:160921343-160921357
44	GATA3	chr1:160921021-160921584	SK-N-SH	brain:	n/a	n/a
45	RAD21	chr1:160921189-160921513	A549	lung:	n/a	chr1:160921343-160921357
46	JUND	chr1:160921188-160921460	K562	blood:	n/a	n/a
47	YY1	chr1:160921167-160921535	GM12878	blood:	n/a	n/a
48	CTCF	chr1:160921101-160921516	H1-hESC	embryonic stem cell:	n/a	chr1:160921342-160921358 chr1:160921357-160921370 chr1:160921341-160921359
49	CTCF	chr1:160921170-160921644	K562	blood:	n/a	chr1:160921342-160921358 chr1:160921357-160921370 chr1:160921341-160921359
50	RAD21	chr1:160921122-160921620	ECC-1	luminal epithelium:	n/a	chr1:160921343-160921357

Variant related genes	Relation type
ITLN2	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12058351	1.00[EUR][1000 genomes]
rs12059277	1.00[EUR][1000 genomes]
rs12082989	1.00[EUR][1000 genomes]
rs12087087	1.00[EUR][1000 genomes]
rs12087658	1.00[EUR][1000 genomes]
rs12090411	1.00[EUR][1000 genomes]
rs12094026	1.00[EUR][1000 genomes]
rs12094349	1.00[EUR][1000 genomes]
rs12095533	1.00[EUR][1000 genomes]
rs12095682	1.00[EUR][1000 genomes]
rs56187725	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59397787	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61469377	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6656542	1.00[EUR][1000 genomes]
rs6678883	1.00[EUR][1000 genomes]
rs6698072	1.00[EUR][1000 genomes]
rs74126638	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126641	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126650	1.00[AMR][1000 genomes]
rs7524859	1.00[EUR][1000 genomes]
rs7532566	1.00[EUR][1000 genomes]
rs790061	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160916600-160921800	Enhancers	Fetal Intestine Large	intestine
2	chr1:160916800-160923800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:160917600-160921800	Enhancers	A549	lung
4	chr1:160918000-160921400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:160918000-160923800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:160918200-160923800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:160918400-160921600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:160919000-160924000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:160919000-160924400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:160919400-160921800	Enhancers	Fetal Intestine Small	intestine
11	chr1:160919400-160923000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:160919600-160921600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:160919600-160921600	Enhancers	NHEK	skin
14	chr1:160919600-160924200	Enhancers	HMEC	breast
15	chr1:160919800-160921800	Enhancers	Ovary	ovary
16	chr1:160919800-160921800	Enhancers	Right Atrium	heart
17	chr1:160919800-160923200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:160919800-160924000	Weak transcription	Fetal Heart	heart
19	chr1:160920000-160921400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:160920000-160923600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:160920200-160924200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:160920400-160921400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:160920400-160921400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:160920600-160921400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:160920600-160922800	Weak transcription	Right Ventricle	heart
26	chr1:160920800-160921400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:160920800-160921800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr1:160920800-160921800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:160920800-160921800	Enhancers	Esophagus	oesophagus
30	chr1:160920800-160921800	Enhancers	Fetal Muscle Trunk	muscle
31	chr1:160921000-160921400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:160921000-160921600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr1:160921000-160921600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr1:160921000-160921600	Enhancers	Primary T cells fromperipheralblood	blood
35	chr1:160921000-160921600	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr1:160921000-160921600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr1:160921000-160921600	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr1:160921000-160921600	Enhancers	HepG2	liver
39	chr1:160921000-160922400	Enhancers	Fetal Thymus	thymus
40	chr1:160921200-160921400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:160921200-160921600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr1:160921200-160921600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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