Variant report

Variant	rs72867441
Chromosome Location	chr1:10441037-10441038
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10440159..10442885-chr1:10447718..10449584,2	MCF-7	breast:
2	chr1:10439520..10442489-chr1:10444058..10446995,2	MCF-7	breast:
3	chr1:10438971..10445404-chr1:10456959..10461376,9	MCF-7	breast:
4	chr1:10440809..10443662-chr1:10447796..10449625,2	MCF-7	breast:
5	chr1:10425970..10428258-chr1:10438530..10441121,2	K562	blood:
6	chr1:10440249..10443281-chr1:10456910..10459943,3	K562	blood:

Variant related genes	Relation type
ENSG00000142657	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10492970	0.93[AMR][1000 genomes]
rs17034591	0.87[AMR][1000 genomes]
rs17034601	1.00[AMR][1000 genomes]
rs17034615	0.88[AMR][1000 genomes]
rs17034616	1.00[AMR][1000 genomes]
rs17034627	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17034655	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17034660	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17034716	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17034766	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17034775	0.88[ASN][1000 genomes]
rs17034849	1.00[ASN][1000 genomes]
rs2297881	0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3737154	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3819096	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41258245	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs41274480	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57661717	1.00[AMR][1000 genomes]
rs57963032	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59211028	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61508659	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72865913	0.88[AMR][1000 genomes]
rs72865916	1.00[AMR][1000 genomes]
rs72865925	0.93[AMR][1000 genomes]
rs72865926	0.88[AMR][1000 genomes]
rs72865927	1.00[AMR][1000 genomes]
rs72865941	1.00[AMR][1000 genomes]
rs72865946	0.88[AMR][1000 genomes]
rs72865961	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72865963	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72865999	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72867415	0.88[AMR][1000 genomes]
rs72867421	0.88[AMR][1000 genomes]
rs72867431	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72867433	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72867438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72867455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72867467	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72867469	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72867481	0.83[AMR][1000 genomes];0.95[EUR][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	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

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10393800-10444600	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:10394200-10441800	Strong transcription	Liver	Liver
3	chr1:10400600-10446400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:10400600-10447400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:10409800-10447400	Weak transcription	Small Intestine	intestine
6	chr1:10418400-10445600	Strong transcription	Fetal Brain Female	brain
7	chr1:10419200-10442800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:10419800-10441200	Strong transcription	Fetal Stomach	stomach
9	chr1:10420200-10445000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:10420200-10446000	Strong transcription	Brain Germinal Matrix	brain
11	chr1:10422400-10447200	Weak transcription	Fetal Heart	heart
12	chr1:10425200-10441600	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:10425200-10441800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:10425800-10447800	Weak transcription	Psoas Muscle	Psoas
15	chr1:10427800-10441800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:10428400-10442000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:10430400-10443800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:10431200-10444800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:10433400-10442000	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:10433600-10441400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:10433600-10441800	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:10434400-10447400	Weak transcription	HMEC	breast
23	chr1:10435400-10447800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr1:10435400-10448000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:10435600-10443200	Weak transcription	Fetal Brain Male	brain
26	chr1:10435600-10444400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:10435600-10447400	Weak transcription	Aorta	Aorta
28	chr1:10435600-10447600	Weak transcription	Thymus	Thymus
29	chr1:10435600-10448800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:10435600-10448800	Weak transcription	Gastric	stomach
31	chr1:10435800-10448000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:10436800-10448400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:10437000-10447800	Weak transcription	Left Ventricle	heart
34	chr1:10437000-10448000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr1:10437400-10447000	Weak transcription	Dnd41	blood
36	chr1:10437400-10447600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr1:10437600-10442000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:10437600-10443600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:10437600-10447800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr1:10438600-10445800	Strong transcription	Fetal Muscle Leg	muscle
41	chr1:10438600-10447000	Weak transcription	Primary B cells from cord blood	blood
42	chr1:10438600-10458200	Weak transcription	Right Atrium	heart
43	chr1:10438800-10445400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:10438800-10445400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:10438800-10446400	Weak transcription	Hela-S3	cervix
46	chr1:10438800-10447600	Weak transcription	Fetal Kidney	kidney
47	chr1:10438800-10448000	Weak transcription	Spleen	Spleen
48	chr1:10439000-10447600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:10439000-10448200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:10439200-10447200	Weak transcription	Fetal Lung	lung

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