Variant report

Variant	rs10736425
Chromosome Location	chr1:45503552-45503553
allele	A/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	JUN	chr1:45503022-45503819	K562	blood:	n/a	n/a
2	GATA1	chr1:45502986-45503753	K562	blood:	n/a	chr1:45503404-45503415 chr1:45503367-45503379 chr1:45503368-45503378 chr1:45503370-45503377
3	GATA2	chr1:45503148-45503613	K562	blood:	n/a	chr1:45503404-45503415 chr1:45503367-45503379 chr1:45503368-45503378 chr1:45503370-45503377
4	EP300	chr1:45503163-45503783	K562	blood:	n/a	chr1:45503559-45503573
5	GATA2	chr1:45503193-45503567	K562	blood:	n/a	chr1:45503404-45503415 chr1:45503367-45503379 chr1:45503368-45503378 chr1:45503370-45503377
6	JUND	chr1:45503085-45503628	SK-N-SH	brain:	n/a	n/a
7	HMGN3	chr1:45503246-45503568	K562	blood:	n/a	n/a
8	GATA3	chr1:45503060-45503611	SK-N-SH	brain:	n/a	chr1:45503404-45503415 chr1:45503367-45503379 chr1:45503368-45503378 chr1:45503370-45503377
9	TEAD4	chr1:45503033-45503762	K562	blood:	n/a	n/a
10	GATA2	chr1:45503219-45503583	K562	blood:	n/a	chr1:45503404-45503415 chr1:45503367-45503379 chr1:45503368-45503378 chr1:45503370-45503377
11	TCF12	chr1:45503075-45503692	SK-N-SH	brain:	n/a	n/a
12	GATA3	chr1:45503075-45503725	SK-N-SH	brain:	n/a	chr1:45503404-45503415 chr1:45503367-45503379 chr1:45503368-45503378 chr1:45503370-45503377
13	TAL1	chr1:45503180-45503634	K562	blood:	n/a	n/a
14	GATA1	chr1:45503066-45503775	PBDE	blood:	n/a	chr1:45503404-45503415 chr1:45503367-45503379 chr1:45503368-45503378 chr1:45503370-45503377
15	JUND	chr1:45503153-45503638	K562	blood:	n/a	n/a
16	CEBPD	chr1:45503179-45503669	K562	blood:	n/a	n/a
17	IRF1	chr1:45503249-45503826	K562	blood:	n/a	chr1:45503556-45503567 chr1:45503555-45503569 chr1:45503554-45503568 chr1:45503556-45503570
18	NR2F2	chr1:45503140-45503609	K562	blood:	n/a	n/a
19	BACH1	chr1:45503228-45503673	K562	blood:	n/a	n/a
20	BHLHE40	chr1:45503235-45503558	K562	blood:	n/a	n/a
21	RCOR1	chr1:45503142-45503666	K562	blood:	n/a	n/a
22	JUN	chr1:45503198-45503650	K562	blood:	n/a	n/a
23	ARID3A	chr1:45503170-45503605	K562	blood:	n/a	n/a
24	TEAD4	chr1:45503098-45503640	K562	blood:	n/a	n/a
25	RCOR1	chr1:45503179-45503613	K562	blood:	n/a	n/a
26	MYC	chr1:45503235-45503596	K562	blood:	n/a	n/a
27	JUND	chr1:45503143-45503575	Hela-S3	cervix:	n/a	n/a
28	CCNT2	chr1:45503151-45503646	K562	blood:	n/a	n/a
29	GATA1	chr1:45503198-45503808	PBDEFetal	blood:	n/a	chr1:45503404-45503415 chr1:45503367-45503379 chr1:45503368-45503378 chr1:45503370-45503377
30	NFIC	chr1:45503028-45503634	SK-N-SH	brain:	n/a	n/a
31	ATF1	chr1:45503206-45503553	K562	blood:	n/a	n/a
32	GATA3	chr1:45503067-45503673	MCF-7	breast:	n/a	chr1:45503404-45503415 chr1:45503367-45503379 chr1:45503368-45503378 chr1:45503370-45503377
33	PBX3	chr1:45503113-45503581	SK-N-SH	brain:	n/a	n/a
34	MXI1	chr1:45503193-45503604	K562	blood:	n/a	n/a
35	MAFK	chr1:45503153-45503553	K562	blood:	n/a	chr1:45503339-45503348
36	CEBPB	chr1:45503137-45503622	Hela-S3	cervix:	n/a	n/a
37	CUX1	chr1:45503232-45503562	K562	blood:	n/a	n/a
38	TCF12	chr1:45503146-45503658	SK-N-SH	brain:	n/a	n/a
39	TCF7L2	chr1:45503281-45503633	MCF-7	breast:	n/a	n/a
40	CTCF	chr1:45503402-45503554	K562	blood:	n/a	n/a
41	TBL1XR1	chr1:45503147-45503563	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:45503364..45509535-chr1:45510898..45517046,6	K562	blood:
2	chr1:45185795..45187646-chr1:45502768..45506079,3	K562	blood:
3	chr1:45500321..45502356-chr1:45502649..45504845,2	K562	blood:

Variant related genes	Relation type
ENSG00000264650	TF binding region
ENSG00000199377	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10890319	0.82[AFR][1000 genomes]
rs11211072	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12047556	0.82[AFR][1000 genomes]
rs12094272	0.84[AFR][1000 genomes]
rs6671633	0.82[AFR][1000 genomes]
rs7537361	0.82[AFR][1000 genomes]
rs7543818	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7551698	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	nsv546148	chr1:45500294-45627663	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10736425	MUTYH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45480800-45510400	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:45481200-45504600	Weak transcription	Colonic Mucosa	Colon
3	chr1:45481200-45510200	Weak transcription	Lung	lung
4	chr1:45481200-45525000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:45481200-45527400	Weak transcription	Left Ventricle	heart
6	chr1:45482000-45523800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:45491800-45516400	Weak transcription	Spleen	Spleen
8	chr1:45492000-45507600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:45494600-45504200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:45495000-45506800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:45497400-45525400	Weak transcription	Gastric	stomach
12	chr1:45498000-45525600	Weak transcription	Pancreas	Pancrea
13	chr1:45498200-45506800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:45499200-45516200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:45500000-45504800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr1:45500400-45505200	Weak transcription	Right Ventricle	heart
17	chr1:45500400-45516600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:45501400-45516600	Weak transcription	Small Intestine	intestine
19	chr1:45501600-45504800	Enhancers	Fetal Intestine Large	intestine
20	chr1:45501800-45504400	Enhancers	K562	blood
21	chr1:45501800-45505800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:45501800-45508000	Weak transcription	Brain Substantia Nigra	brain
23	chr1:45501800-45516200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:45501800-45521200	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:45501800-45527000	Weak transcription	Fetal Brain Male	brain
26	chr1:45502000-45503600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:45502000-45503800	Weak transcription	Ovary	ovary
28	chr1:45502000-45504000	Weak transcription	Brain Germinal Matrix	brain
29	chr1:45502000-45504000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:45502000-45504000	Weak transcription	HepG2	liver
31	chr1:45502000-45507600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:45502000-45507600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:45502000-45508000	Weak transcription	Brain Angular Gyrus	brain
34	chr1:45502000-45508000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:45502000-45508000	Weak transcription	Fetal Brain Female	brain
36	chr1:45502000-45508200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:45502000-45508600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:45502000-45510600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr1:45502000-45512800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:45502000-45523800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr1:45502400-45504000	Enhancers	Hela-S3	cervix
42	chr1:45502400-45505200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr1:45502400-45507800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr1:45502400-45523000	Weak transcription	Aorta	Aorta
45	chr1:45502600-45504200	Weak transcription	Fetal Stomach	stomach
46	chr1:45502800-45504200	Enhancers	Fetal Intestine Small	intestine
47	chr1:45503200-45503600	Enhancers	GM12878-XiMat	blood
48	chr1:45503200-45503600	Enhancers	Osteobl	bone
49	chr1:45503400-45508200	Weak transcription	Brain Anterior Caudate	brain

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