Variant report

Variant	rs3822445
Chromosome Location	chr5:7868866-7868867
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	ZNF143	chr5:7868792-7869405	K562	blood:	n/a	chr5:7869344-7869362
2	POLR2A	chr5:7868759-7869987	GM12878	blood:	n/a	n/a
3	CEBPB	chr5:7868420-7869557	Hela-S3	cervix:	n/a	chr5:7868874-7868885
4	ZNF263	chr5:7868593-7870261	HEK293-T-REx	kidney:	n/a	n/a
5	E2F6	chr5:7868807-7869570	H1-hESC	embryonic stem cell:	n/a	chr5:7869163-7869175 chr5:7869164-7869175 chr5:7869196-7869205 chr5:7869468-7869477
6	POLR2A	chr5:7868733-7869946	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr5:7868763-7869618	U87	brain:	n/a	n/a
8	POLR2A	chr5:7868431-7870081	Hela-S3	cervix:	n/a	n/a
9	ZNF384	chr5:7868837-7869277	K562	blood:	n/a	n/a
10	CREB1	chr5:7868808-7869622	K562	blood:	n/a	n/a
11	JUND	chr5:7868613-7869536	K562	blood:	n/a	chr5:7869162-7869171 chr5:7869194-7869203
12	CTBP2	chr5:7868762-7869512	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr5:7868814-7869572	GM12892	blood:	n/a	n/a
14	MAX	chr5:7868566-7869898	HepG2	liver:	n/a	chr5:7868883-7868890
15	MXI1	chr5:7868690-7869574	K562	blood:	n/a	n/a
16	YY1	chr5:7868862-7869464	GM12892	blood:	n/a	chr5:7869005-7869019 chr5:7869403-7869414
17	MYC	chr5:7868792-7869410	K562	blood:	n/a	chr5:7868883-7868890
18	POLR2A	chr5:7868717-7869648	HUVEC	blood vessel:	n/a	n/a
19	NFYB	chr5:7868857-7869815	K562	blood:	n/a	chr5:7869192-7869207 chr5:7869196-7869208 chr5:7869192-7869207 chr5:7869194-7869209
20	POLR2A	chr5:7868367-7870981	K562	blood:	n/a	n/a
21	CHD2	chr5:7868598-7869957	Hela-S3	cervix:	n/a	chr5:7868953-7868963
22	POLR2A	chr5:7868705-7869530	K562	blood:	n/a	n/a
23	TBL1XR1	chr5:7868812-7869632	K562	blood:	n/a	n/a
24	POLR2A	chr5:7868705-7869624	U87	brain:	n/a	n/a
25	MAX	chr5:7868680-7869808	ECC-1	luminal epithelium:	n/a	chr5:7868883-7868890
26	TBL1XR1	chr5:7868775-7869405	K562	blood:	n/a	n/a
27	POLR2A	chr5:7868832-7869583	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr5:7868739-7869730	HepG2	liver:	n/a	n/a
29	POLR2A	chr5:7868453-7869910	K562	blood:	n/a	n/a
30	CREB1	chr5:7868659-7869857	HepG2	liver:	n/a	n/a
31	MAX	chr5:7868629-7869991	GM12878	blood:	n/a	chr5:7868883-7868890
32	MAX	chr5:7868567-7869802	A549	lung:	n/a	chr5:7868883-7868890
33	FOXA2	chr5:7868839-7869466	A549	lung:	n/a	n/a
34	MAX	chr5:7868773-7869539	HepG2	liver:	n/a	chr5:7868883-7868890
35	MAZ	chr5:7868569-7870021	K562	blood:	n/a	chr5:7868883-7868890
36	REST	chr5:7868846-7869402	A549	lung:	n/a	chr5:7869364-7869377
37	HA-E2F1	chr5:7868597-7870069	MCF-7	breast:	n/a	chr5:7869163-7869175 chr5:7869196-7869205 chr5:7869468-7869477 chr5:7869680-7869689
38	SP1	chr5:7868769-7869572	HCT-116	colon:	n/a	chr5:7869402-7869411 chr5:7869162-7869173 chr5:7869162-7869174 chr5:7869401-7869413 chr5:7869403-7869412 chr5:7868829-7868843 chr5:7869185-7869206 chr5:7869401-7869413
39	POLR2A	chr5:7868845-7869831	HEK293	kidney:	n/a	n/a
40	POLR2A	chr5:7868788-7869721	MCF-7	breast:	n/a	n/a
41	POLR2A	chr5:7868487-7869812	NB4	blood:	n/a	n/a
42	POLR2A	chr5:7868458-7870040	K562	blood:	n/a	n/a
43	ZNF143	chr5:7868756-7869477	Hela-S3	cervix:	n/a	chr5:7869344-7869362
44	ATF1	chr5:7868801-7869432	K562	blood:	n/a	n/a
45	POLR2A	chr5:7868187-7870260	K562	blood:	n/a	n/a
46	TBL1XR1	chr5:7868864-7869541	GM12878	blood:	n/a	n/a
47	ZC3H11A	chr5:7868738-7869185	K562	blood:	n/a	n/a
48	POLR2A	chr5:7868767-7869906	K562	blood:	n/a	n/a
49	POLR2A	chr5:7868831-7870016	GM12892	blood:	n/a	n/a
50	MAX	chr5:7868687-7869594	MCF-7	breast:	n/a	chr5:7868883-7868890

No.	Distal block	Cell Line	Cell type
1	chr5:6632601..6634168-chr5:7866506..7869166,2	K562	blood:
2	chr5:7867721..7870602-chr5:7899852..7901700,2	MCF-7	breast:
3	chr1:154947031..154947660-chr5:7868864..7869551,2	Hela-S3	cervix:
4	chr5:7849253..7853514-chr5:7868734..7871211,5	MCF-7	breast:
5	chr5:7867651..7870301-chr5:7886397..7888680,2	MCF-7	breast:
6	chr5:7866975..7869850-chr5:7885041..7887303,3	K562	blood:
7	chr3:156877426..156878618-chr5:7868821..7869708,4	Hela-S3	cervix:
8	chr5:7867976..7870362-chr5:7899262..7901515,2	K562	blood:

Variant related genes	Relation type
FASTKD3	TF binding region
MTRR	TF binding region
ENSG00000163660	Chromatin interaction
ENSG00000124275	Chromatin interaction
ENSG00000037474	Chromatin interaction
ENSG00000215217	Chromatin interaction
ENSG00000173207	Chromatin interaction
ENSG00000145545	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16879236	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs16879248	0.99[ASN][1000 genomes]
rs16879259	0.99[ASN][1000 genomes]
rs3733781	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3822444	0.98[ASN][1000 genomes]
rs73737646	0.99[ASN][1000 genomes]
rs73737647	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs73737651	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv597005	chr5:7860404-8093077	Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv427707	chr5:7866234-7966019	Strong transcription Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7867800-7869000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:7867800-7869000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr5:7867800-7870400	Active TSS	A549	lung
4	chr5:7867800-7870800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr5:7868000-7869000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:7868000-7870000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:7868000-7870000	Active TSS	HSMM	muscle
8	chr5:7868000-7870200	Active TSS	GM12878-XiMat	blood
9	chr5:7868000-7870400	Active TSS	Fetal Intestine Large	intestine
10	chr5:7868000-7870400	Active TSS	K562	blood
11	chr5:7868000-7870400	Active TSS	NHDF-Ad	bronchial
12	chr5:7868200-7869000	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr5:7868200-7869000	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr5:7868200-7869400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:7868200-7869800	Active TSS	Brain Anterior Caudate	brain
16	chr5:7868200-7870000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:7868200-7870000	Active TSS	Brain Angular Gyrus	brain
18	chr5:7868200-7870000	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr5:7868200-7870200	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr5:7868200-7870200	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr5:7868200-7870200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:7868200-7870200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr5:7868200-7870200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:7868200-7870200	Active TSS	Fetal Muscle Leg	muscle
25	chr5:7868200-7870400	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr5:7868200-7870400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:7868200-7870400	Active TSS	HMEC	breast
28	chr5:7868200-7870400	Active TSS	NHLF	lung
29	chr5:7868200-7870600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:7868200-7870600	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr5:7868200-7870600	Active TSS	Right Atrium	heart
32	chr5:7868200-7870800	Active TSS	H1 Cell Line	embryonic stem cell
33	chr5:7868200-7870800	Active TSS	Psoas Muscle	Psoas
34	chr5:7868200-7870800	Active TSS	Right Ventricle	heart
35	chr5:7868200-7871000	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr5:7868400-7869000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:7868400-7869000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr5:7868400-7869000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:7868400-7869800	Active TSS	Fetal Brain Male	brain
40	chr5:7868400-7870000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:7868400-7870000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:7868400-7870000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:7868400-7870000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:7868400-7870000	Active TSS	Brain Germinal Matrix	brain
45	chr5:7868400-7870000	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr5:7868400-7870200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:7868400-7870200	Active TSS	H9 Cell Line	embryonic stem cell
48	chr5:7868400-7870200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr5:7868400-7870200	Active TSS	Aorta	Aorta
50	chr5:7868400-7870200	Active TSS	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links