Variant report

Variant	rs3790656
Chromosome Location	chr1:165863908-165863909
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:165863869-165864220	K562	blood:	n/a	n/a
2	CTCF	chr1:165863880-165864030	AG10803	skin:	n/a	n/a
3	MXI1	chr1:165863482-165866280	IMR90	lung:	n/a	n/a
4	CTCF	chr1:165863880-165864030	HEK293	kidney:	n/a	n/a
5	RAD21	chr1:165863843-165864132	SK-N-SH_RA	brain:	n/a	n/a
6	CTCF	chr1:165863880-165864030	A549	lung:	n/a	n/a
7	RAD21	chr1:165863866-165864233	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr1:165863905-165864210	IMR90	lung:	n/a	n/a
9	RAD21	chr1:165863881-165864205	IMR90	lung:	n/a	n/a
10	CTCF	chr1:165863860-165864010	HVMF	connective:	n/a	n/a
11	POLR2A	chr1:165863798-165864350	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:165795600..165798299-chr1:165863664..165866486,4	MCF-7	breast:
2	chr1:165797029..165799386-chr1:165863557..165867019,3	K562	blood:

No data

Variant related genes	Relation type
UCK2	TF binding region
ENSG00000143179	Chromatin interaction
ENSG00000143183	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1061771	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10918307	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12090859	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1663840	1.00[EUR][1000 genomes]
rs2153261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2153262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2185267	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2275432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2349108	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2349109	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3748701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790662	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790663	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790666	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790673	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs577133	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666697	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6681761	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6693108	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73031470	1.00[EUR][1000 genomes];1.00[ASN][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	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers 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	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165853400-165864600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:165854000-165869600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:165854400-165865400	Weak transcription	Fetal Lung	lung
4	chr1:165854600-165883000	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:165856400-165869600	Weak transcription	Fetal Kidney	kidney
6	chr1:165856600-165878800	Weak transcription	Small Intestine	intestine
7	chr1:165857800-165865800	Weak transcription	Colonic Mucosa	Colon
8	chr1:165858200-165881200	Strong transcription	Dnd41	blood
9	chr1:165858400-165870000	Strong transcription	K562	blood
10	chr1:165858400-165881000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:165858600-165866800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:165858600-165872000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:165858600-165872600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:165858600-165902400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:165859000-165866200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr1:165859000-165881000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:165859200-165864600	Strong transcription	NHEK	skin
18	chr1:165859200-165866000	Strong transcription	GM12878-XiMat	blood
19	chr1:165859200-165870400	Strong transcription	Fetal Stomach	stomach
20	chr1:165859200-165871000	Strong transcription	Primary hematopoietic stem cells	blood
21	chr1:165859200-165871200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:165859200-165878000	Strong transcription	Hela-S3	cervix
23	chr1:165859200-165880400	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:165859200-165881000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:165859400-165864200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:165859400-165864800	Strong transcription	Fetal Muscle Trunk	muscle
27	chr1:165859400-165866800	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:165859400-165868000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:165859400-165868400	Strong transcription	Duodenum Mucosa	Duodenum
30	chr1:165859400-165868400	Strong transcription	HepG2	liver
31	chr1:165859400-165871200	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr1:165859400-165880200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr1:165859400-165880400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr1:165859400-165880600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:165859400-165880600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:165859600-165864200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:165859600-165870200	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr1:165859600-165870800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:165859600-165880600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:165859800-165864600	Strong transcription	Fetal Muscle Leg	muscle
41	chr1:165859800-165865200	Enhancers	Placenta	Placenta
42	chr1:165859800-165870600	Strong transcription	Fetal Brain Female	brain
43	chr1:165860000-165864200	Weak transcription	Right Ventricle	heart
44	chr1:165860000-165880200	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr1:165860200-165864600	Strong transcription	Primary B cells from cord blood	blood
46	chr1:165860400-165867600	Strong transcription	Fetal Intestine Large	intestine
47	chr1:165860400-165869200	Strong transcription	Brain Germinal Matrix	brain
48	chr1:165860400-165870400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:165860600-165868200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr1:165860800-165864000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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