Variant report

Variant	rs17641115
Chromosome Location	chr2:33415978-33415979
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10205739	0.93[CEU][hapmap];0.83[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10211514	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10432657	0.82[CEU][hapmap]
rs10495783	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10495784	0.82[CEU][hapmap];0.87[JPT][hapmap]
rs1065324	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs11124309	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11681694	0.93[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12104955	0.88[ASN][1000 genomes]
rs12466553	0.91[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs12476719	0.94[ASN][1000 genomes]
rs12611532	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12611549	0.88[ASN][1000 genomes]
rs12617948	0.88[ASN][1000 genomes]
rs12617970	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs1377945	0.80[YRI][hapmap]
rs1377946	1.00[CEU][hapmap];0.87[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1377947	1.00[CEU][hapmap];0.88[JPT][hapmap];0.97[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1454379	0.81[CEU][hapmap];0.87[JPT][hapmap]
rs17565877	0.82[JPT][hapmap]
rs17566780	0.87[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs17567417	0.80[ASN][1000 genomes]
rs17640469	0.96[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17641062	0.87[CHB][hapmap];0.86[ASN][1000 genomes]
rs1869542	1.00[CEU][hapmap];0.87[JPT][hapmap];0.93[YRI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2061026	0.86[CEU][hapmap];0.87[JPT][hapmap];0.90[YRI][hapmap];0.89[ASN][1000 genomes]
rs2290449	0.96[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2367619	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2367620	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2367624	1.00[CEU][hapmap];0.91[JPT][hapmap];0.97[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34577456	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4542826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4670184	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4670186	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4670225	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4670245	0.87[ASN][1000 genomes]
rs4670251	0.84[ASN][1000 genomes]
rs4670252	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4670307	0.92[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4670660	0.87[ASN][1000 genomes]
rs4670778	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs4670822	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4670828	0.87[ASN][1000 genomes]
rs4670833	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4670836	0.87[ASN][1000 genomes]
rs4670849	0.87[ASN][1000 genomes]
rs4670857	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4670860	0.86[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4670863	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4670928	0.81[CHB][hapmap];0.88[ASN][1000 genomes]
rs4671016	0.96[CEU][hapmap];0.88[JPT][hapmap];0.86[EUR][1000 genomes]
rs5006120	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs5006121	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5006122	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5006123	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs5006124	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs5006125	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5006126	0.86[ASN][1000 genomes]
rs55911139	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55957962	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56282338	0.85[ASN][1000 genomes]
rs56988251	0.80[ASN][1000 genomes]
rs58774073	0.80[ASN][1000 genomes]
rs58920936	0.87[EUR][1000 genomes]
rs60558455	0.80[ASN][1000 genomes]
rs62146677	0.84[ASN][1000 genomes]
rs62146678	0.84[ASN][1000 genomes]
rs62146679	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62146704	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6543689	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6543690	0.83[AMR][1000 genomes]
rs6543691	0.96[CEU][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6543698	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6543699	0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs6543700	0.84[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6707904	0.86[ASN][1000 genomes]
rs6707911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707962	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6708836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6712473	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6720059	0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6720185	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6720405	0.88[ASN][1000 genomes]
rs6728094	0.81[CEU][hapmap];0.93[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6736908	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6739323	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6743685	0.82[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs6748806	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6751657	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6759943	0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs726429	0.82[CHB][hapmap];0.86[ASN][1000 genomes]
rs7423390	0.93[CEU][hapmap];0.88[JPT][hapmap];0.97[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7571401	0.93[CEU][hapmap];0.83[CHB][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7595240	0.84[ASN][1000 genomes]
rs9308931	1.00[CEU][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs961239	0.93[CEU][hapmap];0.90[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs964702	1.00[CEU][hapmap];0.88[JPT][hapmap];0.97[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs964703	0.83[CHB][hapmap];0.88[JPT][hapmap];0.90[YRI][hapmap];0.92[ASN][1000 genomes]
rs996102	0.93[CEU][hapmap];0.88[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	esv33628	chr2:33257484-33455355	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv873790	chr2:33369582-33466483	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33394000-33420600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:33403800-33418800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:33403800-33489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:33406400-33419400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:33408000-33422400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:33408200-33423000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:33409000-33417200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:33409200-33441600	Weak transcription	Psoas Muscle	Psoas
9	chr2:33410400-33423800	Weak transcription	Placenta	Placenta
10	chr2:33410400-33438000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:33411200-33416000	Strong transcription	NHLF	lung
12	chr2:33411600-33421200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:33411800-33416400	Strong transcription	Osteobl	bone
14	chr2:33412000-33418200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:33412200-33420600	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:33412400-33419200	Weak transcription	Esophagus	oesophagus
17	chr2:33412400-33421400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:33412800-33419200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:33413000-33417600	Strong transcription	NH-A	brain
20	chr2:33413600-33416000	Strong transcription	Liver	Liver
21	chr2:33414000-33427800	Weak transcription	Right Ventricle	heart
22	chr2:33414000-33434200	Weak transcription	HUVEC	blood vessel
23	chr2:33414200-33416600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:33414200-33422400	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:33414600-33417000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:33414600-33422400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:33414600-33455400	Weak transcription	Fetal Stomach	stomach
28	chr2:33414800-33417000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:33414800-33417800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:33415000-33416400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:33415000-33434400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:33415200-33416000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:33415200-33417000	Enhancers	Fetal Heart	heart
34	chr2:33415200-33417400	Enhancers	Fetal Lung	lung
35	chr2:33415200-33427600	Weak transcription	Left Ventricle	heart
36	chr2:33415200-33441600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:33415400-33416000	Enhancers	Stomach Mucosa	stomach
38	chr2:33415400-33416200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:33415400-33418400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:33415400-33441600	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:33415600-33416000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:33415600-33427000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:33415600-33431800	Weak transcription	NHDF-Ad	bronchial
44	chr2:33415600-33434200	Weak transcription	K562	blood
45	chr2:33415800-33416000	Enhancers	Brain Anterior Caudate	brain
46	chr2:33415800-33416200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:33415800-33418000	Weak transcription	Ovary	ovary
48	chr2:33415800-33419200	Weak transcription	Aorta	Aorta
49	chr2:33415800-33431800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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