Variant report

Variant	rs11217871
Chromosome Location	chr11:120315637-120315638
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	GATA3	chr11:120315583-120315708	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120314640..120316272-chr11:120319708..120321495,2	K562	blood:
2	chr11:120311224..120316272-chr11:120317740..120322611,5	K562	blood:

Variant related genes	Relation type
ARHGEF12	TF binding region
ENSG00000196914	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10502236	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10892573	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10892579	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10892580	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10892581	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217837	0.87[EUR][1000 genomes]
rs11217847	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217853	0.91[EUR][1000 genomes]
rs11217859	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217860	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217861	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11217865	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217868	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217869	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217872	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11217873	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217879	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217881	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217883	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217886	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11217889	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217890	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600200	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600558	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600723	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11602796	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606928	1.00[ASN][1000 genomes]
rs11607944	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11820277	1.00[ASN][1000 genomes]
rs12361340	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361642	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362794	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12363974	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363975	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2120430	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35912781	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4537767	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56329702	0.84[EUR][1000 genomes]
rs57912596	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61898768	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61900794	0.93[EUR][1000 genomes]
rs61900795	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67551874	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67617613	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7108596	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7110955	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7120040	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7120174	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73582205	1.00[ASN][1000 genomes]
rs73584117	1.00[ASN][1000 genomes]
rs73584140	1.00[ASN][1000 genomes]
rs747419	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs766894	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943147	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7948299	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9625	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9666435	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9666441	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv3327475	chr11:120312410-120317541	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120272200-120315800	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:120272400-120320600	Weak transcription	Psoas Muscle	Psoas
3	chr11:120275600-120322200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:120277600-120319800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:120285600-120319800	Weak transcription	Gastric	stomach
6	chr11:120291800-120319200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:120294000-120316000	Weak transcription	Primary B cells from cord blood	blood
8	chr11:120295400-120318600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:120296000-120315800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:120296000-120316200	Weak transcription	Esophagus	oesophagus
11	chr11:120296000-120316400	Weak transcription	Lung	lung
12	chr11:120296000-120317600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:120301400-120355200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:120302600-120316200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:120302800-120317400	Weak transcription	Small Intestine	intestine
16	chr11:120303000-120317000	Weak transcription	K562	blood
17	chr11:120303000-120317400	Weak transcription	Pancreas	Pancrea
18	chr11:120303000-120319400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:120303600-120319000	Weak transcription	HMEC	breast
20	chr11:120303600-120355600	Weak transcription	Stomach Mucosa	stomach
21	chr11:120303800-120315800	Weak transcription	Fetal Heart	heart
22	chr11:120303800-120319000	Weak transcription	Hela-S3	cervix
23	chr11:120303800-120328000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:120304400-120323200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:120304600-120329800	Strong transcription	HSMM	muscle
26	chr11:120304800-120316400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:120304800-120359400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:120306600-120341200	Strong transcription	Osteobl	bone
29	chr11:120306800-120319800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:120306800-120341600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:120307000-120335800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr11:120307000-120341200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:120307600-120318000	Strong transcription	NHDF-Ad	bronchial
34	chr11:120307600-120334600	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:120308000-120319200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:120308000-120341800	Strong transcription	Fetal Intestine Large	intestine
37	chr11:120308000-120352600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:120308000-120359000	Strong transcription	Placenta	Placenta
39	chr11:120308200-120330600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:120308200-120336400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr11:120308400-120333200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:120308400-120334600	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr11:120308400-120339000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:120308400-120339000	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr11:120308400-120357800	Strong transcription	Adipose Nuclei	Adipose
46	chr11:120308800-120315800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:120308800-120315800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:120309600-120320000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr11:120309800-120333800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr11:120310000-120336000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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