Variant report

Variant	rs10753081
Chromosome Location	chr1:173443531-173443532
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	FOSL2	chr1:173442481-173443644	SK-N-SH	brain:	n/a	chr1:173442824-173442834 chr1:173442824-173442833 chr1:173442825-173442834 chr1:173442826-173442833
2	TCF12	chr1:173442430-173443661	SK-N-SH	brain:	n/a	chr1:173443031-173443039
3	POLR2A	chr1:173443276-173444602	HepG2	liver:	n/a	n/a
4	MYBL2	chr1:173443429-173443990	HepG2	liver:	n/a	n/a
5	FOXA1	chr1:173443481-173443903	HepG2	liver:	n/a	n/a
6	JUND	chr1:173442332-173443596	SK-N-SH	brain:	n/a	chr1:173442824-173442834 chr1:173442824-173442833 chr1:173442825-173442834 chr1:173442823-173442834 chr1:173442826-173442833
7	MAFK	chr1:173443410-173443714	IMR90	lung:	n/a	chr1:173443553-173443568
8	FOXA1	chr1:173443430-173444703	HepG2	liver:	n/a	chr1:173444588-173444603 chr1:173444668-173444680
9	TEAD4	chr1:173443367-173444053	HepG2	liver:	n/a	n/a
10	HEY1	chr1:173443278-173444644	HepG2	liver:	n/a	n/a
11	POLR2A	chr1:173443511-173444543	HepG2	liver:	n/a	n/a
12	SP1	chr1:173443461-173444589	HepG2	liver:	n/a	n/a
13	MAFK	chr1:173443367-173443745	HepG2	liver:	n/a	chr1:173443553-173443568
14	TCF12	chr1:173442392-173443801	SK-N-SH	brain:	n/a	chr1:173443031-173443039
15	TBP	chr1:173443286-173443829	HepG2	liver:	n/a	n/a
16	POLR2A	chr1:173443390-173444536	HepG2	liver:	n/a	n/a
17	MAFK	chr1:173443397-173443743	HepG2	liver:	n/a	chr1:173443553-173443568
18	YY1	chr1:173443265-173443975	HepG2	liver:	n/a	n/a
19	JUND	chr1:173442507-173443573	SK-N-SH	brain:	n/a	chr1:173442824-173442834 chr1:173442824-173442833 chr1:173442825-173442834 chr1:173442823-173442834 chr1:173442826-173442833
20	HEY1	chr1:173443335-173443582	HepG2	liver:	n/a	n/a
21	PBX3	chr1:173442493-173443569	SK-N-SH	brain:	n/a	chr1:173442878-173442887
22	MAFF	chr1:173443415-173443745	HepG2	liver:	n/a	chr1:173443551-173443569

No.	Distal block	Cell Line	Cell type
1	chr1:173442552..173449186-chr1:173835087..173838637,8	MCF-7	breast:
2	chr1:173442536..173447801-chr1:173833439..173838851,7	K562	blood:
3	chr1:173443316..173450639-chr1:173791413..173797919,15	K562	blood:
4	chr1:173443428..173450639-chr1:173791407..173797248,10	K562	blood:
5	chr1:173440877..173444689-chr1:173445816..173448383,5	MCF-7	breast:

Variant related genes	Relation type
PRDX6	TF binding region
ENSG00000208317	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000117592	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000117593	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10798282	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10912617	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10912618	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12140760	0.83[ASN][1000 genomes]
rs4255417	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4276950	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4325171	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4382766	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4611	0.87[ASN][1000 genomes]
rs4916220	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4916355	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4916358	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4916359	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4916361	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4916362	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4916363	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55654074	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6425231	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6425233	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6696012	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6702835	0.86[ASN][1000 genomes]
rs7314	0.87[ASN][1000 genomes]
rs7537938	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7540065	0.95[ASN][1000 genomes]
rs7556003	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9425718	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9425719	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9425723	0.95[ASN][1000 genomes]
rs9425724	0.95[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	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173430400-173444400	Weak transcription	Right Ventricle	heart
2	chr1:173430600-173444400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:173430800-173445000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:173431000-173444400	Weak transcription	Left Ventricle	heart
5	chr1:173433200-173444200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:173438200-173445000	Weak transcription	Primary B cells from cord blood	blood
7	chr1:173440000-173444400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr1:173440200-173443600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:173440200-173444000	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:173440400-173444400	Weak transcription	Fetal Stomach	stomach
11	chr1:173440400-173444800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr1:173440400-173444800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:173440400-173445200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:173440600-173445200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:173440600-173445200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:173440600-173445800	Weak transcription	Spleen	Spleen
17	chr1:173441000-173444400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:173441000-173445000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:173441200-173445000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:173441200-173445000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:173441400-173443800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:173441400-173444400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:173441400-173444400	Weak transcription	Dnd41	blood
24	chr1:173441400-173445200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:173441600-173445200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:173441800-173444800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:173441800-173444800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr1:173442400-173443600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:173442400-173443600	Flanking Active TSS	HepG2	liver
30	chr1:173442400-173444000	Enhancers	NHDF-Ad	bronchial
31	chr1:173442400-173444200	Enhancers	Liver	Liver
32	chr1:173442400-173444200	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr1:173442400-173444200	Enhancers	HSMM	muscle
34	chr1:173442400-173444600	Enhancers	HMEC	breast
35	chr1:173442400-173444800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:173442400-173445000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:173442400-173445200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr1:173442400-173445200	Enhancers	Fetal Intestine Large	intestine
39	chr1:173442400-173445200	Enhancers	Fetal Intestine Small	intestine
40	chr1:173442400-173445200	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr1:173442600-173443800	Enhancers	Aorta	Aorta
42	chr1:173442600-173444200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:173442600-173444400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:173442600-173444400	Enhancers	Brain Hippocampus Middle	brain
45	chr1:173442600-173444600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr1:173442600-173444600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:173442600-173444600	Enhancers	Fetal Heart	heart
48	chr1:173442600-173444600	Weak transcription	GM12878-XiMat	blood
49	chr1:173442600-173444800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:173442600-173445000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links