Variant report

Variant	rs4938806
Chromosome Location	chr11:120274353-120274354
allele	A/C
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	FOXA1	chr11:120274183-120274562	HepG2	liver:	n/a	chr11:120274365-120274380

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120269290..120270957-chr11:120272815..120274780,2	K562	blood:

Variant related genes	Relation type
ARHGEF12	TF binding region

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10750172	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10750173	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10750174	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10790378	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10790380	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10790381	0.99[ASN][1000 genomes]
rs10790382	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10790383	0.90[EUR][1000 genomes]
rs10892562	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10892563	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10892564	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10892565	0.96[ASN][1000 genomes]
rs10892566	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10892567	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10892569	0.99[ASN][1000 genomes]
rs10892570	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10892574	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10892575	0.97[ASN][1000 genomes]
rs10892576	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10892578	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10892582	0.90[EUR][1000 genomes]
rs11217840	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11217841	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11217843	0.99[ASN][1000 genomes]
rs11217852	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11217857	0.99[ASN][1000 genomes]
rs11217866	0.95[ASN][1000 genomes]
rs11217874	0.92[ASN][1000 genomes]
rs11217875	0.92[ASN][1000 genomes]
rs11217878	0.90[ASN][1000 genomes]
rs11217887	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11600703	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11601535	0.91[EUR][1000 genomes]
rs11823264	0.97[ASN][1000 genomes]
rs11823300	0.82[AMR][1000 genomes]
rs11824032	0.86[ASN][1000 genomes]
rs12270397	0.99[ASN][1000 genomes]
rs12361632	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12417256	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12417581	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12420378	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12785387	0.84[ASN][1000 genomes]
rs12787285	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12794618	0.97[ASN][1000 genomes]
rs12794946	0.87[EUR][1000 genomes]
rs12807097	0.97[ASN][1000 genomes]
rs1373270	0.90[EUR][1000 genomes]
rs17123861	0.99[ASN][1000 genomes]
rs1812974	0.84[ASN][1000 genomes]
rs1892894	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2276035	0.90[ASN][1000 genomes]
rs2305008	0.92[EUR][1000 genomes]
rs2305010	0.91[EUR][1000 genomes]
rs4381380	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4539328	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4936517	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4936518	0.94[ASN][1000 genomes]
rs4938799	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4938801	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4938802	0.86[ASN][1000 genomes]
rs4938803	0.99[ASN][1000 genomes]
rs4938804	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4938805	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4938807	0.90[ASN][1000 genomes]
rs4938808	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs56693116	0.87[ASN][1000 genomes]
rs6589810	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6589811	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6589812	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6589813	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7101415	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104639	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7107211	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7115714	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7117063	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7117321	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7118391	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7121779	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7126328	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7129944	0.95[ASN][1000 genomes]
rs7131046	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7131597	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs723937	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7478880	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7924772	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7924963	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7924975	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7932037	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7932658	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7933086	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7937612	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7939137	0.90[EUR][1000 genomes]
rs7948928	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7951250	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7952529	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs894839	0.91[EUR][1000 genomes]
rs9633919	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9633950	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1050935	chr11:120224544-120276373	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1036694	chr11:120230243-120285603	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1037573	chr11:120230243-120286918	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1047982	chr11:120238962-120276373	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1050789	chr11:120238962-120286918	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1046430	chr11:120238962-120294026	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1043248	chr11:120238962-120299598	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1051672	chr11:120238962-120314178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1050709	chr11:120246224-120276373	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1051783	chr11:120246224-120314178	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120232000-120274800	Weak transcription	Ovary	ovary
2	chr11:120263600-120274600	Weak transcription	Right Ventricle	heart
3	chr11:120265800-120295600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:120267800-120274600	Weak transcription	Fetal Heart	heart
5	chr11:120269200-120295200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:120269400-120274400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:120269400-120283000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:120270400-120292200	Weak transcription	Fetal Stomach	stomach
9	chr11:120271600-120300200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:120271800-120274400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:120271800-120274400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:120272000-120274400	Weak transcription	K562	blood
13	chr11:120272000-120274800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:120272000-120274800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:120272000-120279600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:120272000-120283000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:120272000-120287000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr11:120272000-120287000	Weak transcription	Fetal Muscle Leg	muscle
19	chr11:120272000-120288400	Weak transcription	Aorta	Aorta
20	chr11:120272000-120291200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr11:120272000-120291400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr11:120272000-120302400	Weak transcription	Brain Anterior Caudate	brain
23	chr11:120272200-120274400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr11:120272200-120274400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:120272200-120274400	Weak transcription	Stomach Mucosa	stomach
26	chr11:120272200-120274800	Enhancers	A549	lung
27	chr11:120272200-120279600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:120272200-120283000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:120272200-120291400	Weak transcription	GM12878-XiMat	blood
30	chr11:120272200-120292600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr11:120272200-120292800	Weak transcription	Fetal Kidney	kidney
32	chr11:120272200-120295200	Weak transcription	Brain Angular Gyrus	brain
33	chr11:120272200-120295200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:120272200-120299000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr11:120272200-120315600	Weak transcription	Brain Germinal Matrix	brain
36	chr11:120272200-120315800	Weak transcription	Brain Hippocampus Middle	brain
37	chr11:120272400-120274400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:120272400-120274600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:120272400-120274800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:120272400-120274800	Enhancers	HepG2	liver
41	chr11:120272400-120275400	Weak transcription	Adipose Nuclei	Adipose
42	chr11:120272400-120279800	Weak transcription	NHLF	lung
43	chr11:120272400-120283800	Weak transcription	Fetal Lung	lung
44	chr11:120272400-120284200	Weak transcription	Colon Smooth Muscle	Colon
45	chr11:120272400-120288600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:120272400-120290400	Weak transcription	Fetal Intestine Large	intestine
47	chr11:120272400-120292200	Weak transcription	Fetal Intestine Small	intestine
48	chr11:120272400-120320600	Weak transcription	Psoas Muscle	Psoas
49	chr11:120272600-120274400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr11:120272600-120274600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links