Variant report

Variant	rs3775519
Chromosome Location	chr4:79720777-79720778
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79719962..79721538-chr4:79737317..79739683,2	K562	blood:
2	chr4:79718867..79721352-chr4:79723446..79725108,2	K562	blood:
3	chr4:79542792..79544409-chr4:79720591..79722991,2	K562	blood:
4	chr4:79550103..79553175-chr4:79717288..79720915,3	K562	blood:

Extended variants
information (count: 183 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:181)

rs_ID	r²[population]
rs10005471	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs10010709	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs10027127	0.91[ASN][1000 genomes]
rs10213354	0.98[ASN][1000 genomes]
rs10518201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10518202	0.98[ASN][1000 genomes]
rs10518205	0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs10518206	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs10518208	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs10518209	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs11728572	0.89[JPT][hapmap]
rs12641797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12643807	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs12644278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12644502	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs12644685	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs12645310	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs12647482	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs12647524	1.00[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs12647653	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs12648219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12648396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12648450	0.88[ASN][1000 genomes]
rs12649750	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs12649863	0.89[ASN][1000 genomes]
rs12649978	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs12650337	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs1426137	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs1426139	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs1564458	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs16997408	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs17003427	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17003443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17003450	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17003451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17003453	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.98[ASN][1000 genomes]
rs17003454	1.00[CEU][hapmap];0.98[ASN][1000 genomes]
rs17003464	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs17003465	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17003472	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs17003478	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs17003479	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs17003488	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs17003489	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs17003492	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs17003499	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs17003500	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs17003503	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs17003504	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs17003511	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs17008951	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs1834517	0.98[ASN][1000 genomes]
rs1972691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978552	0.94[ASN][1000 genomes]
rs2033060	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2033061	0.84[ASN][1000 genomes]
rs2033062	0.86[ASN][1000 genomes]
rs2033063	0.86[ASN][1000 genomes]
rs2114203	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2127781	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs2162228	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs2170243	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2288255	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2291181	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs2306443	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs28372745	0.91[ASN][1000 genomes]
rs28410307	0.84[ASN][1000 genomes]
rs28411173	0.89[ASN][1000 genomes]
rs28489278	0.84[ASN][1000 genomes]
rs28499303	0.93[ASN][1000 genomes]
rs28515480	1.00[ASN][1000 genomes]
rs28579738	1.00[ASN][1000 genomes]
rs28587143	1.00[ASN][1000 genomes]
rs28621590	1.00[ASN][1000 genomes]
rs2867496	1.00[CEU][hapmap]
rs28719734	0.87[ASN][1000 genomes]
rs2903591	0.98[ASN][1000 genomes]
rs35741786	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775513	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs3775514	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs3775515	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs3775516	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs3775518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775522	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3775525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796681	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs3796682	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs3811766	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs3822107	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs3822108	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41418051	1.00[ASN][1000 genomes]
rs41509244	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs4432766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4550959	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs4637427	0.86[ASN][1000 genomes]
rs56802690	0.91[ASN][1000 genomes]
rs57011679	0.94[ASN][1000 genomes]
rs57429247	0.91[ASN][1000 genomes]
rs57574345	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57707267	0.94[ASN][1000 genomes]
rs57767544	0.84[ASN][1000 genomes]
rs58634945	0.93[ASN][1000 genomes]
rs58761040	0.84[ASN][1000 genomes]
rs59030520	0.98[ASN][1000 genomes]
rs59707131	0.84[ASN][1000 genomes]
rs59994556	0.93[ASN][1000 genomes]
rs60830908	0.91[ASN][1000 genomes]
rs60981779	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61073409	0.89[ASN][1000 genomes]
rs61193392	0.86[ASN][1000 genomes]
rs61470194	0.96[ASN][1000 genomes]
rs61671866	0.82[ASN][1000 genomes]
rs62307961	0.86[ASN][1000 genomes]
rs62307962	0.86[ASN][1000 genomes]
rs62307963	0.86[ASN][1000 genomes]
rs62307964	0.86[ASN][1000 genomes]
rs62307966	0.86[ASN][1000 genomes]
rs62307967	0.89[ASN][1000 genomes]
rs62307968	0.89[ASN][1000 genomes]
rs62307994	0.88[ASN][1000 genomes]
rs62307995	0.85[ASN][1000 genomes]
rs62307996	0.85[ASN][1000 genomes]
rs62308000	0.84[ASN][1000 genomes]
rs62308001	0.84[ASN][1000 genomes]
rs62308002	0.86[ASN][1000 genomes]
rs62308004	0.86[ASN][1000 genomes]
rs62308006	0.86[ASN][1000 genomes]
rs62308007	0.86[ASN][1000 genomes]
rs62308009	0.86[ASN][1000 genomes]
rs62308010	0.86[ASN][1000 genomes]
rs62308011	0.86[ASN][1000 genomes]
rs62308012	0.86[ASN][1000 genomes]
rs62308013	0.86[ASN][1000 genomes]
rs62308042	0.86[ASN][1000 genomes]
rs62308350	0.93[ASN][1000 genomes]
rs62308353	0.94[ASN][1000 genomes]
rs62308358	0.94[ASN][1000 genomes]
rs62310760	0.93[ASN][1000 genomes]
rs62310763	1.00[ASN][1000 genomes]
rs62310789	1.00[ASN][1000 genomes]
rs62310790	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310793	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310795	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310796	0.99[ASN][1000 genomes]
rs62310800	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310803	1.00[ASN][1000 genomes]
rs62310804	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310806	0.98[ASN][1000 genomes]
rs62310809	0.97[ASN][1000 genomes]
rs62310810	0.98[ASN][1000 genomes]
rs62310811	0.94[ASN][1000 genomes]
rs62310843	0.86[ASN][1000 genomes]
rs6534005	1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs6814884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6828501	0.98[ASN][1000 genomes]
rs6830661	1.00[CEU][hapmap];0.86[ASN][1000 genomes]
rs6838118	1.00[ASN][1000 genomes]
rs6839280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6843114	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs6844426	0.91[ASN][1000 genomes]
rs6845695	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs6850116	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs6854774	0.86[ASN][1000 genomes]
rs6857012	0.85[ASN][1000 genomes]
rs6857679	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs727760	0.94[ASN][1000 genomes]
rs727761	0.94[ASN][1000 genomes]
rs7439893	0.94[ASN][1000 genomes]
rs7662194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7671578	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs7674715	0.86[ASN][1000 genomes]
rs7681040	0.86[ASN][1000 genomes]
rs7681426	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs7682144	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs7691065	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs7691825	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs7692418	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs7692450	0.87[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7694563	0.86[ASN][1000 genomes]
rs7696247	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs9992277	0.94[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	esv1792021	chr4:79661618-79784245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1011365	chr4:79714695-79779723	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79699400-79722600	Weak transcription	Fetal Thymus	thymus
2	chr4:79700200-79732800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:79702000-79731200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:79703000-79720800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:79703200-79720800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:79703400-79720800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:79705600-79731200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:79706000-79720800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr4:79706200-79722200	Weak transcription	HSMM	muscle
10	chr4:79706600-79722800	Weak transcription	Brain Substantia Nigra	brain
11	chr4:79707000-79721000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:79707600-79721800	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:79707800-79720800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:79707800-79720800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:79709000-79720800	Weak transcription	NHLF	lung
16	chr4:79709200-79723800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr4:79709200-79731200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:79709400-79724000	Weak transcription	Fetal Intestine Small	intestine
19	chr4:79709600-79721400	Weak transcription	Brain Anterior Caudate	brain
20	chr4:79710400-79725200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:79711000-79720800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr4:79714400-79748400	Weak transcription	Aorta	Aorta
23	chr4:79715400-79730400	Weak transcription	Left Ventricle	heart
24	chr4:79716400-79720800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:79716600-79721200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:79716600-79726200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:79716600-79726800	Weak transcription	Fetal Intestine Large	intestine
28	chr4:79716800-79726200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr4:79717600-79721200	Enhancers	Primary B cells from peripheral blood	blood
30	chr4:79718200-79721200	Weak transcription	NHDF-Ad	bronchial
31	chr4:79718400-79721200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr4:79718400-79725400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr4:79718400-79726200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr4:79718800-79720800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:79718800-79721200	Weak transcription	Fetal Heart	heart
36	chr4:79718800-79721600	Genic enhancers	Primary B cells from cord blood	blood
37	chr4:79719400-79726400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr4:79719600-79721000	Weak transcription	Psoas Muscle	Psoas
39	chr4:79719600-79721400	Weak transcription	Right Atrium	heart
40	chr4:79719600-79727000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:79719800-79722800	Enhancers	K562	blood
42	chr4:79720200-79721400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:79720400-79721000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:79720600-79720800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:79720600-79720800	Enhancers	Osteobl	bone
46	chr4:79720600-79721400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr4:79720600-79721400	Flanking Active TSS	GM12878-XiMat	blood
48	chr4:79720600-79721400	Flanking Active TSS	NHEK	skin
49	chr4:79720600-79722400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:79720600-79730000	Weak transcription	Primary T cells from cord blood	blood

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