Variant report

Variant	rs6716291
Chromosome Location	chr2:48799678-48799679
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10495953	1.00[CHB][hapmap];0.96[JPT][hapmap];0.93[YRI][hapmap];0.97[ASN][1000 genomes]
rs11676150	0.98[ASN][1000 genomes]
rs11678306	1.00[CHB][hapmap];0.96[JPT][hapmap];0.93[YRI][hapmap];0.98[ASN][1000 genomes]
rs11680574	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[ASN][1000 genomes]
rs11681276	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11681426	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11683611	0.96[ASN][1000 genomes]
rs11693429	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.98[ASN][1000 genomes]
rs11693559	1.00[CHB][hapmap];0.96[JPT][hapmap];0.93[YRI][hapmap];0.97[ASN][1000 genomes]
rs11693691	0.95[CHB][hapmap];0.96[JPT][hapmap];0.93[YRI][hapmap];0.98[ASN][1000 genomes]
rs12475789	0.97[ASN][1000 genomes]
rs12990079	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12992755	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12992870	0.80[ASN][1000 genomes]
rs13010692	0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs13011288	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs13014112	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs13016899	0.98[ASN][1000 genomes]
rs13025488	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs13027618	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs13030948	0.98[ASN][1000 genomes]
rs13031184	0.98[ASN][1000 genomes]
rs13034951	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs17037412	0.95[CHB][hapmap]
rs17039250	0.82[CHB][hapmap];0.96[JPT][hapmap];0.93[YRI][hapmap];0.90[ASN][1000 genomes]
rs1996970	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2103112	0.98[ASN][1000 genomes]
rs2177489	0.87[CHB][hapmap];0.82[JPT][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2293270	0.80[ASN][1000 genomes]
rs2293271	0.80[ASN][1000 genomes]
rs2293272	0.80[ASN][1000 genomes]
rs2349098	0.87[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap];0.89[ASN][1000 genomes]
rs2882084	0.96[ASN][1000 genomes]
rs3749142	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3749144	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.99[ASN][1000 genomes]
rs3749145	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.99[ASN][1000 genomes]
rs3792234	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3792235	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.99[ASN][1000 genomes]
rs3792236	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.99[ASN][1000 genomes]
rs3792237	0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.98[ASN][1000 genomes]
rs3792238	0.91[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs3828340	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[ASN][1000 genomes]
rs4566410	1.00[CHB][hapmap];0.96[JPT][hapmap];0.93[YRI][hapmap];0.97[ASN][1000 genomes]
rs55641971	0.98[ASN][1000 genomes]
rs55700200	0.96[ASN][1000 genomes]
rs55858189	0.95[ASN][1000 genomes]
rs56111874	0.96[ASN][1000 genomes]
rs62135230	0.92[ASN][1000 genomes]
rs62135231	0.96[ASN][1000 genomes]
rs62135232	0.98[ASN][1000 genomes]
rs62135233	0.96[ASN][1000 genomes]
rs62135236	0.97[ASN][1000 genomes]
rs6545048	0.89[ASN][1000 genomes]
rs66888174	0.96[ASN][1000 genomes]
rs6709043	0.89[ASN][1000 genomes]
rs6710565	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs6712592	0.87[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.88[ASN][1000 genomes]
rs6712724	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6722556	0.97[ASN][1000 genomes]
rs6727929	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.97[ASN][1000 genomes]
rs6732365	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.99[ASN][1000 genomes]
rs6741341	0.87[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6741677	0.98[ASN][1000 genomes]
rs6742725	0.96[ASN][1000 genomes]
rs6757847	0.98[ASN][1000 genomes]
rs6761796	0.99[ASN][1000 genomes]
rs940389	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005954	chr2:48692696-48905723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535682	chr2:48692696-48905723	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv833981	chr2:48705444-48878179	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv581776	chr2:48763382-48913019	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1010494	chr2:48767055-49027310	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking 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 miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48759000-48827600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:48767200-48807800	Weak transcription	Aorta	Aorta
3	chr2:48773000-48808800	Weak transcription	Right Ventricle	heart
4	chr2:48777200-48807800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:48779400-48800200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:48787800-48802200	Weak transcription	Esophagus	oesophagus
7	chr2:48788400-48804600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:48788600-48812000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:48790000-48800000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:48794000-48807800	Weak transcription	Psoas Muscle	Psoas
11	chr2:48794200-48807800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:48794400-48807800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:48794400-48812000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:48794400-48827200	Weak transcription	NHDF-Ad	bronchial
15	chr2:48794600-48811200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:48795400-48812000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:48795400-48814200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:48795600-48800000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:48795600-48800000	Weak transcription	Fetal Stomach	stomach
20	chr2:48795600-48808000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:48795600-48826000	Weak transcription	Fetal Intestine Small	intestine
22	chr2:48795800-48799800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:48795800-48800000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:48796200-48800000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:48796200-48801600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:48796200-48807800	Weak transcription	Left Ventricle	heart
27	chr2:48796400-48802000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:48797600-48800000	Weak transcription	Placenta	Placenta
29	chr2:48798000-48800400	Enhancers	Fetal Muscle Leg	muscle
30	chr2:48798600-48800000	Weak transcription	Lung	lung
31	chr2:48798600-48800000	Weak transcription	Ovary	ovary
32	chr2:48798600-48800600	Enhancers	Fetal Heart	heart
33	chr2:48798800-48800000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:48798800-48807800	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:48798800-48808000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:48798800-48815600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:48799000-48799800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:48799000-48799800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:48799000-48825800	Weak transcription	HSMMtube	muscle
40	chr2:48799200-48800000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:48799200-48800800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:48799400-48800000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:48799400-48800200	Enhancers	Right Atrium	heart
44	chr2:48799400-48800400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:48799400-48800400	Enhancers	Brain Hippocampus Middle	brain
46	chr2:48799400-48800400	Enhancers	Fetal Kidney	kidney
47	chr2:48799400-48800800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:48799400-48800800	Enhancers	HepG2	liver
49	chr2:48799600-48800000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr2:48799600-48800200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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