Variant report

Variant	rs10767641
Chromosome Location	chr11:3852671-3852672
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	POLR2A	chr11:3852379-3853448	GM12892	blood:	n/a	n/a
2	GATA1	chr11:3852529-3853700	K562	blood:	n/a	n/a
3	POLR2A	chr11:3852336-3853411	K562	blood:	n/a	n/a
4	POLR2A	chr11:3852548-3853806	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:3852473-3853074	GM12892	blood:	n/a	n/a
6	POLR2A	chr11:3852605-3852785	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:3852069-3854235	K562	blood:	n/a	n/a
8	POLR2A	chr11:3851881-3852869	K562	blood:	n/a	n/a
9	POLR2A	chr11:3852653-3852708	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr11:3851901-3854284	HL-60	blood:	n/a	n/a
11	STAT3	chr11:3852599-3852720	MCF10A-Er-Src	breast:	n/a	chr11:3852612-3852619
12	POLR2A	chr11:3852535-3852858	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:3851880-3854822	HL-60	blood:	n/a	n/a
14	POLR2A	chr11:3852599-3853404	K562	blood:	n/a	n/a
15	POLR2A	chr11:3852364-3852703	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
RHOG	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10835174	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10835175	0.81[ASN][1000 genomes]
rs10835177	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10835178	0.81[ASN][1000 genomes]
rs11030002	0.81[ASN][1000 genomes]
rs11030008	0.80[ASN][1000 genomes]
rs1451720	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1451721	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs962199	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1803195	chr11:3806490-3924156	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1038220	chr11:3818041-3860024	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv1044882	chr11:3828986-3860024	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1044360	chr11:3832288-3860024	Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3830600-3861000	Weak transcription	Fetal Kidney	kidney
2	chr11:3832600-3853000	Weak transcription	Psoas Muscle	Psoas
3	chr11:3842000-3853600	Strong transcription	Fetal Intestine Small	intestine
4	chr11:3844000-3857000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:3844400-3856200	Strong transcription	Fetal Stomach	stomach
6	chr11:3844600-3852800	Strong transcription	Fetal Intestine Large	intestine
7	chr11:3844600-3853400	Strong transcription	Thymus	Thymus
8	chr11:3844800-3854800	Strong transcription	Dnd41	blood
9	chr11:3844800-3857000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:3845000-3856000	Weak transcription	HUVEC	blood vessel
11	chr11:3845200-3855800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:3845400-3854200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:3845400-3855000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:3845400-3855800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:3845600-3855800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:3846000-3853800	Strong transcription	A549	lung
17	chr11:3846200-3852800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:3846400-3855000	Strong transcription	NHEK	skin
19	chr11:3846600-3852800	Genic enhancers	Primary monocytes fromperipheralblood	blood
20	chr11:3847200-3852800	Strong transcription	Fetal Muscle Leg	muscle
21	chr11:3848400-3853200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:3848400-3861000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:3848600-3853200	Weak transcription	Stomach Mucosa	stomach
24	chr11:3848600-3858200	Weak transcription	NHDF-Ad	bronchial
25	chr11:3848800-3855400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr11:3849200-3853600	Weak transcription	HepG2	liver
27	chr11:3849200-3855400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr11:3849400-3853000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr11:3849400-3853600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:3849400-3853600	Weak transcription	Colonic Mucosa	Colon
31	chr11:3849400-3855800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr11:3849400-3855800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:3849400-3856000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:3849400-3856000	Weak transcription	Brain Germinal Matrix	brain
35	chr11:3849400-3859000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:3849600-3853600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:3849600-3855600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr11:3849600-3855600	Weak transcription	Colon Smooth Muscle	Colon
39	chr11:3849600-3855800	Weak transcription	Aorta	Aorta
40	chr11:3849600-3856400	Weak transcription	Ovary	ovary
41	chr11:3849600-3861000	Weak transcription	HSMMtube	muscle
42	chr11:3849800-3854600	Weak transcription	Hela-S3	cervix
43	chr11:3849800-3854800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr11:3849800-3855400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr11:3849800-3855800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr11:3849800-3856200	Weak transcription	HSMM	muscle
47	chr11:3850200-3852800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:3850200-3853200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:3850200-3853200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
50	chr11:3850200-3855000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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