Variant report

Variant	rs72708145
Chromosome Location	chr1:149817038-149817039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:149816689-149817357	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr1:149800421-149817942	H1-hESC	embryonic stem cell:	n/a	n/a
3	NANOG	chr1:149816964-149817324	H1-hESC	embryonic stem cell:	n/a	n/a
4	TAF1	chr1:149816988-149817344	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:149814988-149821817	K562	blood:	n/a	n/a
6	BCLAF1	chr1:149816098-149817560	K562	blood:	n/a	n/a
7	CHD2	chr1:149816885-149817554	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr1:149816846-149817459	H1-hESC	embryonic stem cell:	n/a	n/a
9	PML	chr1:149816915-149817647	MCF-7	breast:	n/a	n/a
10	NANOG	chr1:149817024-149817384	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:149816901-149817361	H1-hESC	embryonic stem cell:	n/a	n/a
12	SP1	chr1:149817027-149817447	H1-hESC	embryonic stem cell:	n/a	n/a
13	GATA3	chr1:149816872-149817322	SH-SY5Y	brain:	n/a	n/a
14	POLR2A	chr1:149814991-149821919	K562	blood:	n/a	n/a
15	CHD2	chr1:149816910-149817914	K562	blood:	n/a	n/a
16	POLR2A	chr1:149816867-149817336	GM12878	blood:	n/a	n/a
17	POLR2A	chr1:149816974-149817403	H1-hESC	embryonic stem cell:	n/a	n/a
18	JUND	chr1:149816951-149817049	K562	blood:	n/a	n/a
19	MXI1	chr1:149816939-149817255	K562	blood:	n/a	n/a
20	POLR2A	chr1:149816393-149817543	PANC-1	pancreas:	n/a	n/a
21	ATF2	chr1:149816900-149817465	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAFK	chr1:149816935-149817548	H1-hESC	embryonic stem cell:	n/a	n/a
23	TAF1	chr1:149816985-149817372	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr1:149817007-149817418	MCF-7	breast:	n/a	n/a
25	MAFK	chr1:149817007-149817203	Hela-S3	cervix:	n/a	n/a
26	TAF7	chr1:149814973-149817543	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD1	chr1:149815008-149817854	H1-hESC	embryonic stem cell:	n/a	n/a
28	HDAC2	chr1:149816963-149817441	H1-hESC	embryonic stem cell:	n/a	n/a
29	SIN3A	chr1:149816508-149817490	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr1:149816670-149817461	PANC-1	pancreas:	n/a	n/a
31	MAFF	chr1:149816984-149817849	K562	blood:	n/a	n/a
32	POLR2A	chr1:149814975-149819632	K562	blood:	n/a	n/a
33	POLR2A	chr1:149815112-149817954	HepG2	liver:	n/a	n/a
34	CEBPD	chr1:149816930-149817475	K562	blood:	n/a	n/a
35	POLR2A	chr1:149816393-149817456	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr1:149816976-149817381	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr1:149816321-149817309	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr1:149815160-149817351	A549	lung:	n/a	n/a
39	GTF2F1	chr1:149816672-149817468	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr1:149816693-149817400	HCT-116	colon:	n/a	n/a
41	POLR2A	chr1:149816899-149817384	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr1:149816213-149817502	PBDE	blood:	n/a	n/a
43	HEY1	chr1:149816895-149817423	K562	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:149815719..149822339-chr1:149907112..149913890,13	MCF-7	breast:
2	chr1:149813687..149823244-chr1:149851297..149861525,76	MCF-7	breast:
3	chr1:149815832..149817398-chr17:41463861..41466579,2	MCF-7	breast:
4	chr1:149813928..149823076-chr1:149854513..149862208,33	K562	blood:
5	chr1:149815410..149817794-chr1:149900163..149901806,2	K562	blood:
6	chr1:149815281..149817675-chr1:149980545..149983333,2	K562	blood:
7	chr1:149780184..149786348-chr1:149813638..149819174,10	MCF-7	breast:
8	chr1:149814002..149823234-chr1:149906555..149912579,18	MCF-7	breast:
9	chr1:149813697..149823354-chr1:149851773..149862006,115	MCF-7	breast:
10	chr1:149813771..149823366-chr1:149853740..149862208,36	K562	blood:
11	chr1:149815885..149817611-chr1:150124360..150125922,2	K562	blood:
12	chr1:149813582..149820276-chr1:149898052..149903861,9	MCF-7	breast:
13	chr1:149816826..149819259-chr8:99056422..99059164,2	MCF-7	breast:
14	chr1:149815420..149817378-chr1:150036964..150039630,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIST2H2AA3-1	chr1:149816065-149820591	ENSG00000261716.1

No data

Variant related genes	Relation type
ENSG00000272993	TF binding region
HIST2H2AA3	TF binding region
HIST2H3C	TF binding region
ENSG00000183598	Chromatin interaction
ENSG00000143368	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000242663	Chromatin interaction
ENSG00000203814	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000023902	Chromatin interaction
ENSG00000014914	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000156482	Chromatin interaction
ENSG00000163113	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000184678	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1044808	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1046332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11577346	1.00[AFR][1000 genomes]
rs11584354	1.00[AFR][1000 genomes]
rs12062387	0.90[EUR][1000 genomes]
rs12078573	0.81[EUR][1000 genomes]
rs1349532	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1376675	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1376676	0.90[EUR][1000 genomes]
rs1451641	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs15931	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16835135	0.86[EUR][1000 genomes]
rs16836630	0.82[EUR][1000 genomes]
rs17643644	0.81[EUR][1000 genomes]
rs1804775	0.81[EUR][1000 genomes]
rs2474478	0.93[AMR][1000 genomes]
rs28560140	1.00[AFR][1000 genomes]
rs3106121	0.86[AMR][1000 genomes]
rs41264630	0.83[EUR][1000 genomes]
rs45548131	0.82[EUR][1000 genomes]
rs55633017	0.90[EUR][1000 genomes]
rs55664407	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55705001	0.82[EUR][1000 genomes]
rs55885412	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56119131	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56139516	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56212907	1.00[AFR][1000 genomes]
rs56229803	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56265028	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61355654	0.90[EUR][1000 genomes]
rs68144650	0.82[EUR][1000 genomes]
rs72692803	0.83[EUR][1000 genomes]
rs72692804	0.82[EUR][1000 genomes]
rs72692805	0.82[EUR][1000 genomes]
rs72692807	0.82[EUR][1000 genomes]
rs72692808	0.82[EUR][1000 genomes]
rs72692810	0.82[EUR][1000 genomes]
rs72692811	0.82[EUR][1000 genomes]
rs72692812	0.82[EUR][1000 genomes]
rs72692813	0.81[EUR][1000 genomes]
rs72692814	0.81[EUR][1000 genomes]
rs72692816	0.81[EUR][1000 genomes]
rs72692818	0.81[EUR][1000 genomes]
rs72692819	0.81[EUR][1000 genomes]
rs72692873	1.00[AFR][1000 genomes]
rs72692886	1.00[AFR][1000 genomes]
rs72692893	1.00[AFR][1000 genomes]
rs72692898	1.00[AFR][1000 genomes]
rs72692899	1.00[AFR][1000 genomes]
rs72692900	1.00[AFR][1000 genomes]
rs72694914	1.00[AFR][1000 genomes]
rs72694915	1.00[AFR][1000 genomes]
rs72694923	1.00[AFR][1000 genomes]
rs72694926	1.00[AFR][1000 genomes]
rs72708148	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72708149	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72708150	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72708151	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72708152	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72708153	0.90[EUR][1000 genomes]
rs72708157	0.90[EUR][1000 genomes]
rs72708158	0.87[EUR][1000 genomes]
rs72708162	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7524797	0.87[EUR][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	nsv432820	chr1:148921404-149920927	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	784 gene(s)	inside rSNPs	diseases
2	esv1806395	chr1:149015282-149849940	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	425 gene(s)	inside rSNPs	diseases
3	esv1831586	chr1:149036382-149849940	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	425 gene(s)	inside rSNPs	diseases
4	nsv831503	chr1:149640643-149820841	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv469694	chr1:149688852-149836280	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv482790	chr1:149688852-149836280	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv831525	chr1:149701537-149878033	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
8	nsv547843	chr1:149798606-149818466	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149815000-149817200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:149815000-149817400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:149815000-149817400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:149815000-149817600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:149815000-149817600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:149815000-149817800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr1:149815000-149817800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr1:149815000-149818000	Active TSS	H1 Cell Line	embryonic stem cell
9	chr1:149815200-149817600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr1:149815200-149817800	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr1:149815400-149817200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:149815400-149820400	Weak transcription	Gastric	stomach
13	chr1:149815400-149821200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:149815400-149821600	Weak transcription	Lung	lung
15	chr1:149815600-149817200	Enhancers	Small Intestine	intestine
16	chr1:149815600-149817600	Enhancers	Stomach Mucosa	stomach
17	chr1:149815600-149819200	Weak transcription	Colonic Mucosa	Colon
18	chr1:149815600-149820000	Weak transcription	Brain Angular Gyrus	brain
19	chr1:149815600-149820000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:149815600-149820200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:149815600-149820400	Weak transcription	Psoas Muscle	Psoas
22	chr1:149815600-149821000	Weak transcription	Left Ventricle	heart
23	chr1:149815600-149821600	Weak transcription	Esophagus	oesophagus
24	chr1:149815800-149817400	Enhancers	Colon Smooth Muscle	Colon
25	chr1:149815800-149817600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:149815800-149817600	Enhancers	Brain Hippocampus Middle	brain
27	chr1:149815800-149819000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr1:149815800-149820000	Weak transcription	HSMMtube	muscle
29	chr1:149815800-149820600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:149815800-149820800	Weak transcription	Right Atrium	heart
31	chr1:149816000-149817200	Flanking Active TSS	Fetal Intestine Large	intestine
32	chr1:149816000-149817400	Enhancers	Brain Anterior Caudate	brain
33	chr1:149816000-149820000	Weak transcription	Fetal Brain Female	brain
34	chr1:149816000-149820000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:149816000-149820200	Weak transcription	Adipose Nuclei	Adipose
36	chr1:149816000-149820400	Weak transcription	Right Ventricle	heart
37	chr1:149816200-149817200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:149816200-149817200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr1:149816200-149817200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:149816200-149817200	Flanking Active TSS	Fetal Intestine Small	intestine
41	chr1:149816200-149817400	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
42	chr1:149816200-149817400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:149816200-149817400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:149816200-149817400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr1:149816200-149817600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:149816200-149817600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr1:149816200-149817800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr1:149816200-149817800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:149816200-149817800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr1:149816200-149818600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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