Variant report

Variant	rs16867421
Chromosome Location	chr2:182235947-182235948
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10178445	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10183522	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10497578	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12613489	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12623733	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16823661	0.83[EUR][1000 genomes]
rs16867398	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16867399	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16867403	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16867404	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16867407	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16867409	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16867411	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16867412	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16867414	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16867415	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16867417	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16867418	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16867422	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16867424	0.85[ASN][1000 genomes]
rs2219754	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4627521	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56144959	0.88[ASN][1000 genomes]
rs57112009	0.85[ASN][1000 genomes]
rs59403061	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60453369	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60481141	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61097715	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv834476	chr2:182179249-182360259	Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182226800-182236000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr2:182227400-182236000	Weak transcription	Thymus	Thymus
3	chr2:182228000-182236000	Weak transcription	GM12878-XiMat	blood
4	chr2:182233200-182237200	Weak transcription	Fetal Kidney	kidney
5	chr2:182234000-182238200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:182234400-182238400	Enhancers	Dnd41	blood
7	chr2:182235000-182237400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:182235000-182237600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:182235400-182237800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:182235600-182237600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:182235600-182238000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:182235600-182240600	Enhancers	HSMMtube	muscle
13	chr2:182235800-182236000	Enhancers	Fetal Muscle Leg	muscle
14	chr2:182235800-182237000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:182235800-182237400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr2:182235800-182237600	Enhancers	Primary T cells from cord blood	blood
17	chr2:182235800-182237600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr2:182235800-182237800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr2:182235800-182237800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr2:182235800-182238000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr2:182235800-182238000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr2:182235800-182238000	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr2:182235800-182238000	Enhancers	HUVEC	blood vessel
24	chr2:182235800-182238200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:182235800-182238200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:182235800-182238400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:182235800-182238400	Enhancers	Fetal Thymus	thymus
28	chr2:182235800-182238400	Enhancers	HSMM	muscle

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