Variant report

Variant	rs72867492
Chromosome Location	chr1:10491523-10491524
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	UBTF	chr1:10490195-10491528	K562	blood:	n/a	n/a
2	TBL1XR1	chr1:10490105-10491547	K562	blood:	n/a	n/a
3	POLR2A	chr1:10490083-10491658	HepG2	liver:	n/a	n/a
4	RELA	chr1:10490127-10491544	GM18951	blood:	n/a	n/a
5	MAZ	chr1:10489707-10491577	IMR90	lung:	n/a	chr1:10490255-10490262
6	HA-E2F1	chr1:10489950-10491592	MCF-7	breast:	n/a	chr1:10490750-10490759 chr1:10490696-10490706 chr1:10490431-10490440
7	E2F6	chr1:10490010-10491552	H1-hESC	embryonic stem cell:	n/a	chr1:10490750-10490759 chr1:10490696-10490706 chr1:10490431-10490440 chr1:10490495-10490506
8	MAX	chr1:10490019-10491554	H1-hESC	embryonic stem cell:	n/a	chr1:10490255-10490262
9	MXI1	chr1:10489861-10491608	IMR90	lung:	n/a	chr1:10490791-10490806
10	REST	chr1:10489888-10491538	H1-neurons	neurons:	n/a	chr1:10490770-10490783 chr1:10490697-10490707
11	MXI1	chr1:10489950-10491658	SK-N-SH	brain:	n/a	chr1:10490791-10490806
12	NRF1	chr1:10490160-10491561	SK-N-SH	brain:	n/a	chr1:10490749-10490760 chr1:10490748-10490759 chr1:10490749-10490758
13	MTA3	chr1:10491084-10491588	GM12878	blood:	n/a	n/a
14	MXI1	chr1:10491397-10491546	K562	blood:	n/a	n/a
15	JUN	chr1:10489840-10491572	K562	blood:	n/a	n/a
16	E2F6	chr1:10489951-10491580	K562	blood:	n/a	chr1:10490750-10490759 chr1:10490696-10490706 chr1:10490431-10490440 chr1:10490495-10490506
17	POLR2A	chr1:10489889-10491699	H1-hESC	embryonic stem cell:	n/a	n/a
18	NR2F2	chr1:10490028-10491607	K562	blood:	n/a	n/a
19	MAX	chr1:10489961-10491560	A549	lung:	n/a	chr1:10490255-10490262
20	E2F6	chr1:10489997-10491686	H1-hESC	embryonic stem cell:	n/a	chr1:10490750-10490759 chr1:10490696-10490706 chr1:10490431-10490440 chr1:10490495-10490506
21	HCFC1	chr1:10490074-10491649	Hela-S3	cervix:	n/a	n/a
22	E2F6	chr1:10491134-10491549	K562	blood:	n/a	n/a
23	MAX	chr1:10490003-10491632	K562	blood:	n/a	chr1:10490255-10490262

No.	Distal block	Cell Line	Cell type
1	chr1:10270585..10272249-chr1:10490197..10491890,2	K562	blood:
2	chr1:10473791..10476777-chr1:10490511..10492354,2	K562	blood:
3	chr1:10457794..10460664-chr1:10487844..10492697,5	K562	blood:
4	chr1:10490607..10494447-chr1:10532445..10535163,5	K562	blood:
5	chr1:10488008..10492443-chr1:10531123..10534892,8	K562	blood:
6	chr1:10490085..10492364-chr1:10508772..10511442,3	K562	blood:
7	chr1:10488905..10491611-chr1:10518532..10520834,2	MCF-7	breast:
8	chr1:10489993..10493018-chr1:10531254..10535234,5	MCF-7	breast:
9	chr1:10490864..10493248-chr1:10508230..10510272,2	K562	blood:
10	chr1:10489448..10493967-chr1:10494423..10498103,7	K562	blood:
11	chr1:10002273..10004549-chr1:10490535..10492203,2	MCF-7	breast:
12	chr1:10457794..10461321-chr1:10487053..10491931,7	K562	blood:
13	chr1:10457881..10459696-chr1:10491385..10493588,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271989	TF binding region
APITD1-CORT	TF binding region
ENSG00000228150	Chromatin interaction
ENSG00000054523	Chromatin interaction
ENSG00000160049	Chromatin interaction
ENSG00000203469	Chromatin interaction
ENSG00000251503	Chromatin interaction
ENSG00000142657	Chromatin interaction
ENSG00000162441	Chromatin interaction
ENSG00000241563	Chromatin interaction
ENSG00000173614	Chromatin interaction
ENSG00000142655	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs56883680	1.00[AMR][1000 genomes]
rs57572959	1.00[AMR][1000 genomes]
rs58688469	1.00[AMR][1000 genomes]
rs60842505	1.00[AMR][1000 genomes]
rs72857023	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats 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	26 gene(s)	inside rSNPs	diseases
7	nsv998731	chr1:10464176-10607351	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	esv3373675	chr1:10489565-10491863	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10489800-10491600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:10489800-10491600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr1:10490000-10491600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:10490000-10491600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:10490000-10491600	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr1:10490000-10491600	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr1:10490000-10491600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:10490200-10491600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:10490200-10491600	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr1:10490200-10491600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:10490200-10491600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:10490200-10491600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:10490200-10491800	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr1:10490200-10491800	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr1:10490200-10491800	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr1:10490200-10491800	Active TSS	A549	lung
17	chr1:10490400-10491600	Active TSS	H1 Cell Line	embryonic stem cell
18	chr1:10490400-10491600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:10490400-10491600	Active TSS	Fetal Kidney	kidney
20	chr1:10490400-10491600	Active TSS	Left Ventricle	heart
21	chr1:10490400-10491600	Active TSS	Psoas Muscle	Psoas
22	chr1:10490400-10491600	Active TSS	NHDF-Ad	bronchial
23	chr1:10490400-10491800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:10490400-10491800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:10490400-10491800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:10490400-10491800	Active TSS	HSMM	muscle
27	chr1:10490400-10491800	Active TSS	NHLF	lung
28	chr1:10490800-10491600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr1:10490800-10491600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr1:10490800-10491600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:10490800-10491600	Flanking Active TSS	HMEC	breast
32	chr1:10490800-10491800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr1:10490800-10492000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr1:10491000-10491600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr1:10491000-10491600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr1:10491000-10491600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr1:10491000-10491600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:10491000-10491600	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr1:10491000-10491600	Flanking Active TSS	Liver	Liver
40	chr1:10491000-10491600	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr1:10491000-10491600	Flanking Active TSS	Colonic Mucosa	Colon
42	chr1:10491000-10491600	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr1:10491000-10491600	Flanking Active TSS	Placenta	Placenta
44	chr1:10491000-10491600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr1:10491000-10491600	Flanking Active TSS	HUVEC	blood vessel
46	chr1:10491000-10491600	Flanking Active TSS	K562	blood
47	chr1:10491000-10491600	Flanking Active TSS	NH-A	brain
48	chr1:10491000-10491800	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr1:10491000-10491800	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr1:10491200-10491600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links