Variant report

Variant	rs11946258
Chromosome Location	chr4:87364669-87364670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11929783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11941484	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11946235	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35455450	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6824346	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6831576	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6831589	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6845334	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7674832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7684469	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7690940	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7693558	1.00[AMR][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	nsv594786	chr4:87076360-87609320	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv999470	chr4:87165663-87514552	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537164	chr4:87165663-87514552	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1012836	chr4:87279206-87643558	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87342000-87372800	Weak transcription	Aorta	Aorta
2	chr4:87354200-87369000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:87354600-87374000	Weak transcription	Pancreas	Pancrea
4	chr4:87362200-87364800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr4:87362400-87365000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr4:87363000-87364800	Enhancers	Brain Hippocampus Middle	brain
7	chr4:87363000-87370800	Weak transcription	Fetal Kidney	kidney
8	chr4:87363200-87365000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:87363400-87370800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:87363600-87367400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:87363800-87364800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:87364000-87365000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr4:87364000-87365000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:87364000-87365000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:87364200-87365000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr4:87364200-87365000	Active TSS	Brain Anterior Caudate	brain
17	chr4:87364400-87364800	Enhancers	Primary hematopoietic stem cells	blood
18	chr4:87364400-87365200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:87364600-87364800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr4:87364600-87364800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr4:87364600-87364800	Enhancers	Ovary	ovary
22	chr4:87364600-87364800	ZNF genes & repeats	Right Atrium	heart
23	chr4:87364600-87365000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
24	chr4:87364600-87365000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:87364600-87365000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr4:87364600-87365000	Enhancers	Brain Substantia Nigra	brain
27	chr4:87364600-87365000	Active TSS	Stomach Smooth Muscle	stomach
28	chr4:87364600-87365200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:87364600-87367400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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