Variant report

Variant	rs4418639
Chromosome Location	chr1:197359999-197360000
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10922231	0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10922236	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs10922260	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1135810	0.85[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap]
rs12042609	0.80[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap]
rs1337166	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1345529	0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs1923759	0.90[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap]
rs4026514	0.85[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs4147323	0.86[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap]
rs4604725	0.86[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs4915545	0.90[ASN][1000 genomes]
rs7534863	0.85[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs927510	0.86[ASW][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs9787082	0.86[ASW][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs993487	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1014039	chr1:197311285-197529212	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197354400-197366000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:197358600-197360200	Enhancers	Dnd41	blood
3	chr1:197358600-197362200	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr1:197358600-197362400	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr1:197358600-197362600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:197358800-197361400	Enhancers	Fetal Thymus	thymus
7	chr1:197358800-197361800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr1:197358800-197362000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr1:197358800-197362200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr1:197358800-197362600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr1:197358800-197362800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:197359000-197361000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr1:197359000-197361400	Enhancers	Thymus	Thymus
14	chr1:197359400-197360400	Enhancers	Primary hematopoietic stem cells	blood
15	chr1:197359400-197362000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:197359600-197361000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:197359800-197360200	Enhancers	Primary T cells from cord blood	blood
18	chr1:197359800-197361000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:197359800-197361400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:197359800-197361600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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