Variant report

Variant	rs4683310
Chromosome Location	chr3:46723551-46723552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46723220..46725442-chr3:46727287..46728789,2	K562	blood:
2	chr3:46711200..46713596-chr3:46721127..46724340,3	MCF-7	breast:
3	chr3:46722742..46724325-chr3:46733459..46735116,2	K562	blood:
4	chr3:46723115..46726062-chr3:46732632..46735169,2	MCF-7	breast:
5	chr3:46720266..46726397-chr3:46730234..46736031,11	MCF-7	breast:
6	chr3:46719842..46724126-chr3:46725182..46728551,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178038	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11718902	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11719061	0.88[ASN][1000 genomes]
rs13071203	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13073467	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3827495	0.90[CHB][hapmap];0.84[CHD][hapmap]
rs4683311	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9817508	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9847395	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9847407	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9849060	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.88[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9855064	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007449	chr3:46652343-46986578	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv536554	chr3:46652343-46986578	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv876739	chr3:46656980-46744966	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv876740	chr3:46656980-46748453	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv876741	chr3:46663372-46763839	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv516623	chr3:46680063-46852679	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv2757869	chr3:46680452-46972489	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	esv2759147	chr3:46680452-46972489	Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	esv1804680	chr3:46704348-46869911	Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv876742	chr3:46705369-46763839	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
11	nsv536555	chr3:46706571-46817963	Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv536556	chr3:46706571-46849443	Genic enhancers Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv536557	chr3:46706571-46853434	Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
15	nsv10268	chr3:46707169-46736718	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
16	esv1797503	chr3:46708712-46760713	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription 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	16 gene(s)	inside rSNPs	diseases
17	nsv876743	chr3:46716523-46753577	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
18	nsv876744	chr3:46716523-46763839	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46702800-46732400	Weak transcription	Psoas Muscle	Psoas
2	chr3:46703000-46731600	Weak transcription	Hela-S3	cervix
3	chr3:46705400-46732600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr3:46705400-46734400	Weak transcription	Ovary	ovary
5	chr3:46711400-46726800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:46711400-46730400	Strong transcription	Primary T cells from cord blood	blood
7	chr3:46711400-46731800	Strong transcription	NHEK	skin
8	chr3:46711600-46731000	Strong transcription	Esophagus	oesophagus
9	chr3:46711800-46731200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:46712400-46730600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr3:46713000-46732000	Weak transcription	Stomach Mucosa	stomach
12	chr3:46714800-46729600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr3:46714800-46730400	Strong transcription	HMEC	breast
14	chr3:46715200-46723800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr3:46715400-46731600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr3:46715800-46724000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:46716000-46732000	Strong transcription	Fetal Intestine Small	intestine
18	chr3:46717200-46723800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:46717400-46733800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:46717800-46733600	Weak transcription	Brain Angular Gyrus	brain
21	chr3:46717800-46734000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr3:46718200-46723600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr3:46718600-46724200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr3:46719200-46724400	Weak transcription	Fetal Stomach	stomach
25	chr3:46719200-46732000	Weak transcription	Right Atrium	heart
26	chr3:46719400-46725800	Weak transcription	HSMMtube	muscle
27	chr3:46719400-46727000	Weak transcription	Fetal Muscle Leg	muscle
28	chr3:46719800-46729400	Strong transcription	Spleen	Spleen
29	chr3:46720200-46727600	Strong transcription	Aorta	Aorta
30	chr3:46720400-46730200	Strong transcription	Gastric	stomach
31	chr3:46720400-46731800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr3:46720600-46723800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr3:46720600-46729400	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr3:46720600-46733800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:46721000-46730000	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr3:46721200-46730400	Strong transcription	Lung	lung
37	chr3:46721200-46731800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr3:46721400-46731000	Strong transcription	Pancreas	Pancrea
39	chr3:46721400-46731200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr3:46721600-46723600	Strong transcription	Adipose Nuclei	Adipose
41	chr3:46721800-46723800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr3:46721800-46723800	Genic enhancers	Right Ventricle	heart
43	chr3:46722000-46731000	Strong transcription	Fetal Intestine Large	intestine
44	chr3:46722000-46731000	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr3:46722400-46724200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr3:46722400-46728000	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr3:46722600-46723600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:46722600-46726200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:46722800-46725600	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr3:46722800-46727800	Strong transcription	Liver	Liver

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