Variant report

Variant	rs13393368
Chromosome Location	chr2:189901119-189901120
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs10194770	1.00[CEU][hapmap];0.80[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10194927	0.80[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs10195023	0.80[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs10197596	0.90[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs10200215	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs10200824	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10207407	0.86[ASN][1000 genomes]
rs10207530	0.84[ASN][1000 genomes]
rs10208525	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs10210319	0.93[ASN][1000 genomes]
rs10931391	0.81[CEU][hapmap]
rs10931392	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10931394	0.87[EUR][1000 genomes]
rs10931395	0.87[EUR][1000 genomes]
rs10931396	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs10931397	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs11186	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1131518	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs13383261	0.93[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13421823	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13421883	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs13429993	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs13432580	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs28384143	0.93[ASN][1000 genomes]
rs35571278	0.87[EUR][1000 genomes]
rs55633056	0.88[EUR][1000 genomes]
rs55685144	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55711740	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55765720	0.87[EUR][1000 genomes]
rs55778292	0.87[EUR][1000 genomes]
rs55784828	0.88[EUR][1000 genomes]
rs55850163	0.87[EUR][1000 genomes]
rs55905390	0.87[EUR][1000 genomes]
rs55929725	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55947958	0.88[EUR][1000 genomes]
rs55963648	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55965240	0.93[ASN][1000 genomes]
rs55974662	0.86[ASN][1000 genomes]
rs55977069	0.87[EUR][1000 genomes]
rs56044677	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56080628	0.88[EUR][1000 genomes]
rs56176197	0.85[EUR][1000 genomes]
rs56310996	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56380683	0.87[EUR][1000 genomes]
rs56381977	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56408385	0.87[EUR][1000 genomes]
rs56667101	0.88[EUR][1000 genomes]
rs56843866	0.88[EUR][1000 genomes]
rs56954312	0.81[ASN][1000 genomes]
rs56970084	0.93[ASN][1000 genomes]
rs57206096	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57547130	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57796506	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58106884	0.88[EUR][1000 genomes]
rs58175660	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58243388	0.88[EUR][1000 genomes]
rs58289599	0.87[EUR][1000 genomes]
rs58532741	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59149631	0.87[EUR][1000 genomes]
rs59384732	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59488585	0.87[EUR][1000 genomes]
rs59880272	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60355473	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60396510	0.88[EUR][1000 genomes]
rs60414265	0.85[EUR][1000 genomes]
rs60762885	0.88[EUR][1000 genomes]
rs60860012	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61199451	0.88[EUR][1000 genomes]
rs61410138	0.87[EUR][1000 genomes]
rs72902328	0.93[ASN][1000 genomes]
rs72902330	0.93[ASN][1000 genomes]
rs72902361	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72902380	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72902385	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72902398	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72904412	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72904419	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72904429	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72904433	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72904472	0.87[EUR][1000 genomes]
rs72904475	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72904486	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72904489	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72904490	0.88[EUR][1000 genomes]
rs72904492	0.88[EUR][1000 genomes]
rs72906305	0.88[EUR][1000 genomes]
rs72906307	0.88[EUR][1000 genomes]
rs72906313	0.88[EUR][1000 genomes]
rs72906316	0.88[EUR][1000 genomes]
rs72906317	0.88[EUR][1000 genomes]
rs72906321	0.88[EUR][1000 genomes]
rs72906322	0.88[EUR][1000 genomes]
rs72906325	0.88[EUR][1000 genomes]
rs72906330	0.88[EUR][1000 genomes]
rs72906333	0.88[EUR][1000 genomes]
rs72906336	0.88[EUR][1000 genomes]
rs72906337	0.88[EUR][1000 genomes]
rs72906338	0.88[EUR][1000 genomes]
rs72906349	0.87[EUR][1000 genomes]
rs72906352	0.87[EUR][1000 genomes]
rs72906354	0.87[EUR][1000 genomes]
rs72906358	0.87[EUR][1000 genomes]
rs72906361	0.85[EUR][1000 genomes]
rs72906362	0.87[EUR][1000 genomes]
rs72906363	0.87[EUR][1000 genomes]
rs72906375	0.87[EUR][1000 genomes]
rs72906378	0.85[EUR][1000 genomes]
rs72906379	0.86[EUR][1000 genomes]
rs72906384	0.87[EUR][1000 genomes]
rs72906395	0.87[EUR][1000 genomes]
rs72906398	0.87[EUR][1000 genomes]
rs72908316	0.86[EUR][1000 genomes]
rs72908318	0.86[EUR][1000 genomes]
rs72908321	0.86[EUR][1000 genomes]
rs72908324	0.86[EUR][1000 genomes]
rs72908325	0.86[EUR][1000 genomes]
rs72908338	0.87[EUR][1000 genomes]
rs72908342	0.87[EUR][1000 genomes]
rs72908343	0.87[EUR][1000 genomes]
rs72915321	0.93[ASN][1000 genomes]
rs72915330	0.93[ASN][1000 genomes]
rs72915335	0.93[ASN][1000 genomes]
rs7355694	0.93[ASN][1000 genomes]
rs7355697	0.93[ASN][1000 genomes]
rs7419288	0.93[CEU][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7419543	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs7420035	0.87[EUR][1000 genomes]
rs7420319	0.86[EUR][1000 genomes]
rs7420331	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs7421172	0.93[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7421643	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs7424001	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs7424585	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7424845	0.87[EUR][1000 genomes]
rs7424928	0.88[EUR][1000 genomes]
rs7425276	0.87[EUR][1000 genomes]
rs7425292	0.87[EUR][1000 genomes]
rs7425294	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs7425297	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs7425309	0.87[EUR][1000 genomes]
rs7425327	0.81[CEU][hapmap]
rs7425816	0.91[CEU][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875610	chr2:189796272-189904674	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv821859	chr2:189900851-189901309	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189888000-189902600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:189888000-189917400	Weak transcription	Ovary	ovary
3	chr2:189889800-189931000	Weak transcription	Esophagus	oesophagus
4	chr2:189890400-189902800	Weak transcription	Fetal Stomach	stomach
5	chr2:189891600-189913600	Weak transcription	Fetal Kidney	kidney
6	chr2:189892000-189904000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:189893200-189932600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:189893600-189916200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:189894000-189913800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:189894600-189903800	Weak transcription	Placenta	Placenta
11	chr2:189894600-189932800	Weak transcription	Right Ventricle	heart
12	chr2:189895000-189902000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:189895000-189902000	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr2:189895000-189902200	Strong transcription	Osteobl	bone
15	chr2:189895200-189901600	Strong transcription	NHDF-Ad	bronchial
16	chr2:189895200-189902000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:189895200-189902000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:189895200-189902200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:189895200-189909000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:189895200-189940800	Strong transcription	HSMM	muscle
21	chr2:189895400-189902200	Strong transcription	NH-A	brain
22	chr2:189895600-189965200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:189895800-189903000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:189896000-189907400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:189896200-189962400	Weak transcription	Left Ventricle	heart
26	chr2:189896400-189922600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:189896600-189910600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:189896800-189932800	Weak transcription	Pancreas	Pancrea
29	chr2:189897000-189902200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:189897000-189911000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:189897000-189949000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:189897200-189903600	Weak transcription	Fetal Intestine Small	intestine
33	chr2:189897200-189934400	Weak transcription	Gastric	stomach
34	chr2:189897400-189905800	Weak transcription	Brain Anterior Caudate	brain
35	chr2:189897400-189917400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr2:189897400-189932400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:189897600-189934000	Weak transcription	Lung	lung
38	chr2:189898400-189938200	Weak transcription	HMEC	breast
39	chr2:189899000-189902800	Weak transcription	Fetal Intestine Large	intestine
40	chr2:189899000-189903400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:189899000-189904000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:189899000-189905000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:189899000-189916000	Weak transcription	Aorta	Aorta
44	chr2:189899000-189919000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:189899000-189925000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:189899000-189939200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:189899200-189902800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:189899200-189902800	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:189899600-189903200	Weak transcription	Liver	Liver
50	chr2:189899800-189901400	Weak transcription	Fetal Lung	lung

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