Variant report

Variant	rs3775061
Chromosome Location	chr4:3238754-3238755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:3237753..3241593-chr4:3242889..3245748,3	K562	blood:
2	chr4:3231863..3234034-chr4:3238136..3239944,2	MCF-7	breast:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs108850	0.85[JPT][hapmap]
rs110501	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs1547410	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16843804	0.89[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap]
rs2024115	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs2071655	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs2071671	0.89[JPT][hapmap]
rs2071703	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2071704	0.85[JPT][hapmap]
rs2269477	0.81[ASN][1000 genomes]
rs2269499	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2285086	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs2298967	0.80[EUR][1000 genomes]
rs2298971	0.85[ASN][1000 genomes]
rs2798221	0.85[JPT][hapmap]
rs3095075	0.88[ASN][1000 genomes]
rs3095077	0.85[JPT][hapmap]
rs3095081	0.84[JPT][hapmap]
rs3121417	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3121418	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3121419	0.91[CEU][hapmap];0.80[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3129321	0.87[ASN][1000 genomes]
rs3129322	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3135175	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34155847	0.91[ASN][1000 genomes]
rs362268	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs362271	0.95[CEU][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs362272	0.95[CEU][hapmap];0.85[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs362273	0.90[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs362275	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs362296	0.82[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs362306	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs362309	0.97[ASN][1000 genomes]
rs362312	0.96[ASN][1000 genomes]
rs362331	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs362336	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs363064	0.86[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs363066	0.85[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap]
rs363088	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs363092	0.85[ASN][1000 genomes]
rs363096	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs3755883	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3856973	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs4690072	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs4690073	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs6446723	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs6844859	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs6855981	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs73193303	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7659144	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs7685686	0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs7691627	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs82332	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs82333	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs82334	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs916171	0.81[CHB][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv998290	chr4:3176454-3355758	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv524211	chr4:3215835-3270488	Strong transcription Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv470003	chr4:3215835-3275484	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv878454	chr4:3215835-3305739	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv878455	chr4:3215835-3344891	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv878456	chr4:3215835-3467519	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv428106	chr4:3226182-3752322	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv878457	chr4:3231661-3278517	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
11	nsv878458	chr4:3235518-3303976	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
12	nsv878459	chr4:3235518-3310831	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3114600-3292400	Weak transcription	Right Atrium	heart
2	chr4:3145800-3239200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:3172400-3238800	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:3196000-3242600	Strong transcription	Fetal Intestine Small	intestine
5	chr4:3204800-3246000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:3206000-3244600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr4:3206000-3246400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:3207600-3243600	Strong transcription	Primary B cells from peripheral blood	blood
9	chr4:3207600-3244000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:3207600-3244600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr4:3207600-3245400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr4:3207600-3246400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:3207800-3243200	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:3207800-3243800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr4:3207800-3244400	Strong transcription	Duodenum Mucosa	Duodenum
16	chr4:3207800-3245400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:3208000-3243600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr4:3208200-3239200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:3208200-3246400	Strong transcription	Fetal Thymus	thymus
20	chr4:3208400-3244800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:3210000-3244200	Strong transcription	Fetal Intestine Large	intestine
22	chr4:3210000-3245000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:3210000-3246600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:3210400-3247000	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr4:3211600-3246400	Strong transcription	Thymus	Thymus
26	chr4:3213400-3242600	Strong transcription	Ovary	ovary
27	chr4:3213400-3243400	Strong transcription	Dnd41	blood
28	chr4:3213400-3245600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:3213600-3238800	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr4:3213600-3245600	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr4:3213800-3247600	Strong transcription	Primary T cells from cord blood	blood
32	chr4:3214000-3243400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr4:3221600-3238800	Weak transcription	Hela-S3	cervix
34	chr4:3222600-3241600	Strong transcription	Adipose Nuclei	Adipose
35	chr4:3223200-3243800	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr4:3223400-3247600	Strong transcription	Fetal Brain Female	brain
37	chr4:3225200-3240800	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr4:3227200-3239200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:3228800-3246600	Strong transcription	Liver	Liver
40	chr4:3229000-3243000	Strong transcription	Placenta	Placenta
41	chr4:3229000-3245400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr4:3229200-3243000	Strong transcription	Brain Angular Gyrus	brain
43	chr4:3229600-3239000	Strong transcription	GM12878-XiMat	blood
44	chr4:3229600-3242800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr4:3229600-3244800	Strong transcription	Brain Anterior Caudate	brain
46	chr4:3229800-3242800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:3229800-3243800	Strong transcription	Brain Cingulate Gyrus	brain
48	chr4:3229800-3245200	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr4:3229800-3245200	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr4:3230000-3242200	Strong transcription	Duodenum Smooth Muscle	Duodenum

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