Variant report

Variant	rs2724720
Chromosome Location	chr3:137778410-137778411
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:137776797..137779428-chr3:137782269..137783995,2	MCF-7	breast:
2	chr3:137774393..137777110-chr3:137777951..137779797,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs1107422	0.87[ASN][1000 genomes]
rs11719358	0.94[ASN][1000 genomes]
rs13100360	0.84[ASN][1000 genomes]
rs1444577	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1444578	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1545816	0.84[ASN][1000 genomes]
rs17838821	0.84[ASN][1000 genomes]
rs179282	0.94[ASN][1000 genomes]
rs1825081	0.95[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2589259	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2589260	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2622704	0.92[ASN][1000 genomes]
rs2622705	0.92[ASN][1000 genomes]
rs2622706	0.92[ASN][1000 genomes]
rs2622707	0.92[ASN][1000 genomes]
rs2622709	0.89[ASN][1000 genomes]
rs2622710	0.89[ASN][1000 genomes]
rs2622711	0.88[ASN][1000 genomes]
rs2622714	0.86[ASN][1000 genomes]
rs2622715	0.86[ASN][1000 genomes]
rs2622716	0.86[ASN][1000 genomes]
rs2622717	0.86[ASN][1000 genomes]
rs2622718	0.86[ASN][1000 genomes]
rs2622719	0.84[ASN][1000 genomes]
rs2622720	0.84[ASN][1000 genomes]
rs2622724	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2622725	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2622726	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2622727	0.84[ASN][1000 genomes]
rs2622728	0.84[ASN][1000 genomes]
rs2622729	0.84[ASN][1000 genomes]
rs2622730	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2622745	0.86[EUR][1000 genomes]
rs2724693	0.86[ASN][1000 genomes]
rs2724694	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2724695	0.84[ASN][1000 genomes]
rs2724697	0.89[ASN][1000 genomes]
rs2724698	0.92[ASN][1000 genomes]
rs2724699	0.92[ASN][1000 genomes]
rs2724700	0.92[ASN][1000 genomes]
rs2724701	0.92[ASN][1000 genomes]
rs2724702	0.92[ASN][1000 genomes]
rs2724703	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2724704	0.92[ASN][1000 genomes]
rs2724705	0.92[ASN][1000 genomes]
rs2724706	0.92[ASN][1000 genomes]
rs2724707	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2724708	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2724713	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2724716	0.84[ASN][1000 genomes]
rs2724717	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2724721	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2724722	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2724723	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28480035	0.80[ASN][1000 genomes]
rs329381	0.84[ASN][1000 genomes]
rs329382	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs329383	0.83[ASN][1000 genomes]
rs329384	0.84[ASN][1000 genomes]
rs329385	0.84[ASN][1000 genomes]
rs329388	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs329389	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs329390	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs329391	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs365504	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs367439	0.84[ASN][1000 genomes]
rs374045	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs382629	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs384828	0.89[ASN][1000 genomes]
rs389697	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs390729	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs405265	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs405517	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405602	0.89[ASN][1000 genomes]
rs407009	0.92[ASN][1000 genomes]
rs419075	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs425938	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs436145	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs442800	0.92[ASN][1000 genomes]
rs445025	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs446644	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs452195	0.92[ASN][1000 genomes]
rs453023	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs618553	0.89[ASN][1000 genomes]
rs6809258	0.84[ASN][1000 genomes]
rs7613955	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7629243	0.84[ASN][1000 genomes]
rs7639197	0.86[ASN][1000 genomes]
rs899983	0.87[ASN][1000 genomes]
rs9814877	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9834670	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9842918	0.80[ASN][1000 genomes]
rs996432	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2757890	chr3:137611789-137933835	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2759180	chr3:137611789-137933835	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2751978	chr3:137715302-137890750	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1007857	chr3:137767454-137843106	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers 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	5 gene(s)	inside rSNPs	diseases
6	nsv1008563	chr3:137776151-137801394	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1002136	chr3:137776151-137806500	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137729400-137780400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:137742000-137780200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:137744400-137792000	Weak transcription	Fetal Kidney	kidney
4	chr3:137749600-137780000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:137750000-137781800	Weak transcription	Lung	lung
6	chr3:137750600-137782200	Weak transcription	Fetal Intestine Small	intestine
7	chr3:137754400-137783000	Weak transcription	Stomach Mucosa	stomach
8	chr3:137763000-137780600	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:137763000-137797600	Weak transcription	Hela-S3	cervix
10	chr3:137763400-137780400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:137763400-137781400	Weak transcription	HSMMtube	muscle
12	chr3:137763400-137782600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:137766200-137781000	Weak transcription	NHEK	skin
14	chr3:137766800-137780400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:137766800-137783600	Weak transcription	Brain Substantia Nigra	brain
16	chr3:137767000-137778800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr3:137767000-137782800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:137767200-137791800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:137767400-137780400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:137767400-137780400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:137767600-137779600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:137768200-137780000	Weak transcription	Spleen	Spleen
23	chr3:137768200-137782800	Weak transcription	Esophagus	oesophagus
24	chr3:137768200-137787600	Weak transcription	A549	lung
25	chr3:137768400-137780400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr3:137768400-137782200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr3:137768600-137780000	Weak transcription	Aorta	Aorta
28	chr3:137768600-137782200	Weak transcription	Gastric	stomach
29	chr3:137768600-137783600	Weak transcription	Pancreas	Pancrea
30	chr3:137768800-137778800	Weak transcription	Fetal Stomach	stomach
31	chr3:137768800-137779000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:137768800-137779600	Weak transcription	NHDF-Ad	bronchial
33	chr3:137768800-137779600	Weak transcription	Osteobl	bone
34	chr3:137768800-137779800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:137768800-137779800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:137768800-137779800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr3:137768800-137779800	Weak transcription	Right Ventricle	heart
38	chr3:137768800-137781000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr3:137769000-137780000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr3:137769400-137780400	Weak transcription	NHLF	lung
41	chr3:137769800-137785600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr3:137770200-137780200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr3:137770200-137783600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr3:137770400-137781200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr3:137770400-137783600	Weak transcription	Fetal Lung	lung
46	chr3:137771400-137780000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr3:137772800-137792200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:137773400-137778600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:137773400-137779800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr3:137773400-137779800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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