Variant report

Variant	rs3804766
Chromosome Location	chr3:51430657-51430658
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:51428771..51431051-chr3:51571775..51574665,3	K562	blood:
2	chr17:57922139..57925404-chr3:51428160..51430774,3	MCF-7	breast:
3	chr3:51428405..51432279-chr3:51464614..51468207,4	MCF-7	breast:
4	chr3:51428575..51432934-chr3:51531325..51537191,8	K562	blood:
5	chr3:50652754..50655473-chr3:51429609..51433416,3	MCF-7	breast:
6	chr3:50649298..50656086-chr3:51426248..51430836,9	MCF-7	breast:
7	chr3:51429373..51431987-chr3:51587416..51589959,2	K562	blood:
8	chr3:51429853..51431477-chr3:51530962..51533655,2	MCF-7	breast:
9	chr3:51429653..51435090-chr3:51454270..51458499,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000201524	Chromatin interaction
ENSG00000114738	Chromatin interaction
ENSG00000145041	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10510757	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10510758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12485610	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12487426	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12487468	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12489219	0.81[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs12489414	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12490471	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12490889	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12491048	0.98[ASN][1000 genomes]
rs12492624	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12493265	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12493618	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12493857	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12493978	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12494462	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12494979	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13089799	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13090348	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1370124	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17051783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17051811	0.89[ASN][1000 genomes]
rs17661242	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17712228	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1842394	0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2033703	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2061949	0.94[MEX][hapmap]
rs2082992	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2082993	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2101056	0.82[CHB][hapmap]
rs2170177	0.83[CHB][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap];0.94[MEX][hapmap];0.80[ASN][1000 genomes]
rs2217938	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241785	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2304512	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306430	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2306431	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2356261	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356298	0.94[ASN][1000 genomes]
rs35536327	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3749317	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3828395	0.94[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4468966	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4687553	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4687563	0.91[ASN][1000 genomes]
rs4687601	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687605	0.94[ASN][1000 genomes]
rs4687610	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4687656	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4687691	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4687731	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687777	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687794	0.91[ASN][1000 genomes]
rs4687803	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4687804	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4687811	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4687812	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4687813	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4974096	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4974098	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4974112	0.81[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs55667499	0.92[ASN][1000 genomes]
rs55671465	0.85[ASN][1000 genomes]
rs56239081	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56729479	0.94[ASN][1000 genomes]
rs57027950	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57047724	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57603251	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57700326	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57831708	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58059174	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58189274	0.82[ASN][1000 genomes]
rs58201844	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58568178	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58836277	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59563413	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59838596	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59953568	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60606339	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61233013	0.91[ASN][1000 genomes]
rs61419317	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61689323	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72945708	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72945713	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72951443	0.92[ASN][1000 genomes]
rs73834252	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73834253	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73834254	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73834258	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73837435	0.94[AFR][1000 genomes]
rs73837437	0.88[AFR][1000 genomes]
rs73837438	0.94[AFR][1000 genomes]
rs73837439	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73837442	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73837443	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs751076	0.89[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7642698	0.92[ASN][1000 genomes]
rs880478	0.94[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9817077	0.94[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.89[ASN][1000 genomes]
rs9817872	0.94[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.89[ASN][1000 genomes]
rs9819195	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9820140	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9827186	0.89[ASN][1000 genomes]
rs9829057	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.90[ASN][1000 genomes]
rs9842600	0.91[ASN][1000 genomes]
rs9843583	0.90[ASN][1000 genomes]
rs9856134	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9861019	0.86[ASN][1000 genomes]
rs9878592	0.81[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005858	chr3:51090373-51444027	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv536569	chr3:51090373-51444027	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv460536	chr3:51395571-51469107	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv590276	chr3:51395571-51469107	Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv590277	chr3:51408051-51474418	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51429000-51431400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr3:51429200-51431400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:51429200-51431400	Enhancers	Fetal Brain Male	brain
4	chr3:51429400-51431000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:51429400-51431800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:51429600-51430800	Transcr. at gene 5' and 3'	A549	lung
7	chr3:51429600-51430800	Transcr. at gene 5' and 3'	NH-A	brain
8	chr3:51429600-51431000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:51429600-51431200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:51429600-51431400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:51429600-51431400	ZNF genes & repeats	Fetal Intestine Large	intestine
12	chr3:51429600-51431600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:51429600-51432200	Transcr. at gene 5' and 3'	Dnd41	blood
14	chr3:51429600-51432400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr3:51429600-51432400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:51429600-51432600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:51429600-51432600	Genic enhancers	Primary B cells from peripheral blood	blood
18	chr3:51429600-51432600	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
19	chr3:51429600-51435000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:51429800-51430800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
21	chr3:51429800-51431000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
22	chr3:51429800-51431200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
23	chr3:51429800-51431400	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr3:51429800-51431400	Transcr. at gene 5' and 3'	HSMM	muscle
25	chr3:51429800-51431600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr3:51429800-51431600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:51429800-51431600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
28	chr3:51429800-51432200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:51429800-51432800	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
30	chr3:51430000-51430800	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:51430000-51430800	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:51430000-51430800	Genic enhancers	Placenta Amnion	Placenta Amnion
33	chr3:51430000-51431000	Genic enhancers	Esophagus	oesophagus
34	chr3:51430000-51431000	Transcr. at gene 5' and 3'	HepG2	liver
35	chr3:51430000-51431200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:51430000-51431200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:51430000-51431200	Genic enhancers	Brain Cingulate Gyrus	brain
38	chr3:51430000-51431400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:51430000-51431400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
40	chr3:51430000-51431400	Genic enhancers	Ovary	ovary
41	chr3:51430000-51431600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:51430000-51431600	Weak transcription	Fetal Kidney	kidney
43	chr3:51430000-51431600	Transcr. at gene 5' and 3'	Hela-S3	cervix
44	chr3:51430000-51432200	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr3:51430000-51433000	Enhancers	Right Atrium	heart
46	chr3:51430000-51433200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:51430000-51433200	Genic enhancers	Brain Inferior Temporal Lobe	brain
48	chr3:51430000-51433200	Genic enhancers	Placenta	Placenta
49	chr3:51430000-51433600	Genic enhancers	Fetal Muscle Trunk	muscle
50	chr3:51430000-51434000	Genic enhancers	Primary T cells fromperipheralblood	blood

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