Variant report

Variant	rs6714419
Chromosome Location	chr2:72712091-72712092
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10173381	1.00[ASN][1000 genomes]
rs10194216	1.00[ASN][1000 genomes]
rs11126366	1.00[ASN][1000 genomes]
rs11126376	1.00[ASN][1000 genomes]
rs11686713	1.00[ASN][1000 genomes]
rs12052508	1.00[ASN][1000 genomes]
rs12471312	1.00[ASN][1000 genomes]
rs12992973	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13011477	1.00[ASN][1000 genomes]
rs13390754	1.00[ASN][1000 genomes]
rs1400581	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1517185	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1596930	1.00[ASN][1000 genomes]
rs1596931	1.00[ASN][1000 genomes]
rs1947118	1.00[ASN][1000 genomes]
rs2203679	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420444	1.00[ASN][1000 genomes]
rs2901146	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115351	1.00[ASN][1000 genomes]
rs4364045	1.00[ASN][1000 genomes]
rs4852873	1.00[ASN][1000 genomes]
rs4852874	1.00[ASN][1000 genomes]
rs4852883	1.00[ASN][1000 genomes]
rs56298436	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs583119	1.00[ASN][1000 genomes]
rs584522	1.00[ASN][1000 genomes]
rs587744	1.00[ASN][1000 genomes]
rs589547	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590252	1.00[ASN][1000 genomes]
rs590345	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598138	1.00[ASN][1000 genomes]
rs598496	1.00[ASN][1000 genomes]
rs620770	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628432	1.00[ASN][1000 genomes]
rs629539	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs630241	1.00[ASN][1000 genomes]
rs634586	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs638854	1.00[ASN][1000 genomes]
rs639843	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs640610	1.00[ASN][1000 genomes]
rs641939	1.00[ASN][1000 genomes]
rs642652	1.00[ASN][1000 genomes]
rs647242	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs653220	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546759	1.00[ASN][1000 genomes]
rs6546760	1.00[ASN][1000 genomes]
rs6546764	1.00[ASN][1000 genomes]
rs659833	1.00[ASN][1000 genomes]
rs663218	1.00[ASN][1000 genomes]
rs666233	1.00[ASN][1000 genomes]
rs668586	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711265	1.00[ASN][1000 genomes]
rs6714312	1.00[ASN][1000 genomes]
rs6714595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737565	1.00[ASN][1000 genomes]
rs6752122	1.00[ASN][1000 genomes]
rs6758593	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs676078	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs680495	1.00[ASN][1000 genomes]
rs689154	1.00[ASN][1000 genomes]
rs7420588	1.00[ASN][1000 genomes]
rs7420667	1.00[ASN][1000 genomes]
rs7558686	1.00[ASN][1000 genomes]
rs7558919	1.00[ASN][1000 genomes]
rs7563738	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7568803	1.00[ASN][1000 genomes]
rs7580952	1.00[ASN][1000 genomes]
rs7594350	1.00[ASN][1000 genomes]
rs7595180	1.00[ASN][1000 genomes]
rs7595315	1.00[ASN][1000 genomes]
rs7600273	1.00[ASN][1000 genomes]
rs9309464	1.00[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	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv999179	chr2:72561463-72761103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv582208	chr2:72690622-72835886	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv834257	chr2:72701083-72853548	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72691400-72712600	Weak transcription	Osteobl	bone
2	chr2:72691400-72724200	Weak transcription	Psoas Muscle	Psoas
3	chr2:72691400-72726400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:72691600-72724200	Weak transcription	HUVEC	blood vessel
5	chr2:72691600-72741800	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:72692400-72742000	Weak transcription	Small Intestine	intestine
7	chr2:72692600-72727600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:72699600-72744600	Weak transcription	Liver	Liver
9	chr2:72700200-72742600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:72702600-72727000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:72702600-72727600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:72702600-72743600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:72702800-72712800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:72702800-72724800	Weak transcription	Brain Substantia Nigra	brain
15	chr2:72702800-72728200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:72703000-72713600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:72703000-72736400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:72703200-72720200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:72703200-72727600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:72703200-72727800	Weak transcription	NHEK	skin
21	chr2:72703200-72728000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:72703200-72728600	Weak transcription	Right Ventricle	heart
23	chr2:72703200-72731000	Weak transcription	Left Ventricle	heart
24	chr2:72703200-72732600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:72703200-72732600	Weak transcription	Lung	lung
26	chr2:72703200-72735800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:72703200-72742800	Weak transcription	HSMM	muscle
28	chr2:72703200-72743000	Weak transcription	Pancreas	Pancrea
29	chr2:72703200-72743400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:72703200-72743800	Weak transcription	Brain Anterior Caudate	brain
31	chr2:72703400-72715800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:72703400-72717400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:72703400-72718600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:72703400-72728600	Weak transcription	Esophagus	oesophagus
35	chr2:72703400-72729800	Weak transcription	Brain Germinal Matrix	brain
36	chr2:72703400-72729800	Weak transcription	Fetal Stomach	stomach
37	chr2:72703400-72741800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:72703400-72744200	Weak transcription	A549	lung
39	chr2:72703400-72752200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr2:72703600-72745000	Weak transcription	Fetal Intestine Large	intestine
41	chr2:72704200-72728400	Weak transcription	Fetal Brain Female	brain
42	chr2:72704800-72728400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr2:72705800-72718400	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr2:72706000-72729000	Weak transcription	HepG2	liver
45	chr2:72706200-72721200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:72707000-72720000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr2:72707000-72725800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:72707200-72724800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:72707800-72731000	Weak transcription	Aorta	Aorta
50	chr2:72707800-72742800	Weak transcription	Fetal Heart	heart

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