Variant report

Variant	rs16837000
Chromosome Location	chr2:205995406-205995407
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10175054	0.96[ASN][1000 genomes]
rs10932097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1100394	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11899425	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12465268	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12466722	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12466813	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12477364	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12477797	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13427801	0.85[ASN][1000 genomes]
rs1347305	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1368942	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1510774	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs16836942	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16836950	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16836961	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16837012	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16837019	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16837021	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1897781	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2289023	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35505346	0.92[ASN][1000 genomes]
rs4675499	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4675501	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62172701	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6435271	0.84[ASN][1000 genomes]
rs6435272	0.83[ASN][1000 genomes]
rs73057184	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7560015	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7565979	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs849106	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs849107	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs849110	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs849115	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs849116	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs849120	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs849121	0.95[ASN][1000 genomes]
rs849124	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs849129	0.82[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	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv16739	chr2:205898770-206127984	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv1000779	chr2:205969138-206064554	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv1009424	chr2:205969138-206078240	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv525418	chr2:205969220-206077607	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv875729	chr2:205972555-206027314	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205953400-206007200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:205970000-206026000	Weak transcription	HSMMtube	muscle
3	chr2:205973400-205998200	Weak transcription	Psoas Muscle	Psoas
4	chr2:205976800-206024400	Weak transcription	Aorta	Aorta
5	chr2:205977200-206000200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:205979400-206014600	Weak transcription	Pancreas	Pancrea
7	chr2:205982400-205997400	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:205982600-206003000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:205984600-205998000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:205986000-206004400	Weak transcription	Stomach Mucosa	stomach
11	chr2:205989000-206003400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:205990200-205996800	Weak transcription	Placenta	Placenta
13	chr2:205990600-206003000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:205990600-206005600	Weak transcription	Left Ventricle	heart
15	chr2:205990800-205998000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:205991000-206002800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:205991000-206004200	Weak transcription	Adipose Nuclei	Adipose
18	chr2:205991000-206004600	Weak transcription	Fetal Intestine Large	intestine
19	chr2:205991000-206036600	Weak transcription	HSMM	muscle
20	chr2:205992600-205995600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr2:205993000-205995600	Enhancers	Primary T cells from cord blood	blood
22	chr2:205993200-205995600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr2:205993400-205995800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:205993600-205995600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr2:205993600-205995800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:205993600-205995800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr2:205993800-205995600	Enhancers	Primary T cells fromperipheralblood	blood
28	chr2:205993800-205995600	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr2:205993800-205995600	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr2:205994200-205995600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:205994400-205995600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:205994400-205995600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:205994600-205995600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:205994600-206025800	Weak transcription	Fetal Kidney	kidney
35	chr2:205994800-205995600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr2:205994800-205998000	Weak transcription	Fetal Lung	lung

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