Variant report

Variant	rs11732251
Chromosome Location	chr4:106995143-106995144
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10000428	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10003024	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10004611	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10008428	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10008773	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10016884	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10017969	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10018910	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10025052	0.80[EUR][1000 genomes]
rs10027207	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10030019	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs10049933	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11097912	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs11732791	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11931386	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11932523	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11942153	0.82[EUR][1000 genomes]
rs12509366	0.83[EUR][1000 genomes]
rs12509640	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs12510966	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs12512683	0.82[EUR][1000 genomes]
rs12513345	0.84[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs12642691	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12642900	0.81[EUR][1000 genomes]
rs12650692	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13101612	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13113845	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13114479	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13121614	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13138528	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17272618	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs28391259	0.82[EUR][1000 genomes]
rs28394440	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28467469	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28784652	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28805707	0.98[ASN][1000 genomes]
rs28822186	0.83[EUR][1000 genomes]
rs28845843	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28897193	0.81[EUR][1000 genomes]
rs3109958	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3109960	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3113250	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4306956	0.93[EUR][1000 genomes]
rs4307042	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4314353	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4355394	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4364267	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4374692	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4382109	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4470632	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4508971	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4569824	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4577583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4600995	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55633564	0.82[EUR][1000 genomes]
rs60538413	0.95[EUR][1000 genomes]
rs62321365	0.82[EUR][1000 genomes]
rs6533237	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6533242	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6819081	0.95[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6823347	0.81[EUR][1000 genomes]
rs6824682	0.82[EUR][1000 genomes]
rs6828362	0.84[EUR][1000 genomes]
rs6836198	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6842919	0.95[EUR][1000 genomes]
rs6843331	0.94[EUR][1000 genomes]
rs6844105	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6846579	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs6849573	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6852388	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6853554	0.83[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs72677306	0.83[EUR][1000 genomes]
rs7356287	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7438546	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7657962	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs7662592	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs7663321	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs7667596	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7668276	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7673101	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7677248	0.80[EUR][1000 genomes]
rs7678847	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs7682646	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7687657	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7689298	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7692069	0.82[EUR][1000 genomes]
rs7692652	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[ASN][1000 genomes]
rs7693333	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7693448	0.91[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9685464	0.84[EUR][1000 genomes]
rs9991091	0.83[EUR][1000 genomes]
rs9996093	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414280	chr4:106987397-107017178	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
2	esv3419151	chr4:106987397-107020894	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11732251	MGC16169	Cis_1M	lymphoblastoid	RTeQTL
rs11732251	SCYE1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106972400-106997000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:106984000-107010200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:106984600-106998200	Weak transcription	Fetal Heart	heart
4	chr4:106985000-107011400	Weak transcription	HepG2	liver
5	chr4:106986800-107002400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:106987000-106995800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:106990000-106998000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:106992400-106998000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr4:106993000-107008800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:106993200-106997000	Weak transcription	Gastric	stomach
11	chr4:106993200-106997200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:106993200-106997800	Weak transcription	Brain Hippocampus Middle	brain
13	chr4:106993200-107010000	Weak transcription	Left Ventricle	heart
14	chr4:106993400-106998200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:106993400-107010400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:106993600-106998200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr4:106993600-106998400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:106993600-107002400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr4:106993600-107010000	Weak transcription	Right Ventricle	heart
20	chr4:106993800-107010800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr4:106994400-106996200	ZNF genes & repeats	Liver	Liver
22	chr4:106994400-106997000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr4:106994400-106997000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr4:106994400-106998400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr4:106994600-106995200	ZNF genes & repeats	Fetal Lung	lung
26	chr4:106994600-106995200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
27	chr4:106994600-106995400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
28	chr4:106994600-106995400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:106994600-106995400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:106994600-106995400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
31	chr4:106994600-106995400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
32	chr4:106994600-106995400	ZNF genes & repeats	Fetal Stomach	stomach
33	chr4:106994600-106996200	ZNF genes & repeats	Fetal Intestine Large	intestine
34	chr4:106994600-106996200	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr4:106994600-106996200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
36	chr4:106994600-106997000	Weak transcription	HSMM	muscle
37	chr4:106994600-106998400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr4:106994600-107015000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:106994800-106995200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:106994800-106995200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:106994800-106995200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr4:106994800-106995400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:106994800-106995400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:106994800-106995400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:106994800-106995400	ZNF genes & repeats	Adipose Nuclei	Adipose
46	chr4:106994800-106995400	ZNF genes & repeats	Fetal Brain Female	brain
47	chr4:106994800-106995400	Strong transcription	Fetal Kidney	kidney
48	chr4:106994800-106996000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:106994800-106996000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr4:106994800-106996200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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