Variant report

Variant	rs16838802
Chromosome Location	chr1:239880128-239880129
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16832157	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs16838578	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs16838580	1.00[AFR][1000 genomes]
rs16838581	1.00[AFR][1000 genomes]
rs16838628	1.00[AFR][1000 genomes]
rs16838747	1.00[AFR][1000 genomes]
rs16838841	1.00[YRI][hapmap]
rs2355229	1.00[AFR][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	nsv549435	chr1:239375010-239974006	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv3377526	chr1:239623743-240111639	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv873351	chr1:239636613-240324200	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2757778	chr1:239766094-240389504	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv2759009	chr1:239766094-240389504	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239868800-239880400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:239869000-239880800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:239870200-239882400	Weak transcription	Pancreas	Pancrea
4	chr1:239870200-239883000	Weak transcription	Fetal Brain Male	brain
5	chr1:239870200-239883000	Weak transcription	Gastric	stomach
6	chr1:239871600-239880600	Weak transcription	Thymus	Thymus
7	chr1:239875400-239890800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:239876800-239880200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:239877000-239880800	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:239877800-239881200	Enhancers	Stomach Mucosa	stomach
11	chr1:239878200-239880600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:239878200-239880600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:239878200-239891000	Weak transcription	Fetal Intestine Small	intestine
14	chr1:239878800-239880400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:239878800-239881800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr1:239879000-239880400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:239879000-239880400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr1:239879000-239880400	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr1:239879000-239880800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:239879000-239881000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr1:239879000-239881400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:239879000-239882200	Enhancers	Primary hematopoietic stem cells	blood
23	chr1:239879400-239880400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:239879400-239881200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr1:239879400-239881600	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr1:239879400-239882800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr1:239879600-239881000	Enhancers	Fetal Thymus	thymus
28	chr1:239879600-239882200	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr1:239879800-239880200	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr1:239879800-239880600	Enhancers	Fetal Lung	lung
31	chr1:239879800-239881200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr1:239879800-239882000	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr1:239880000-239880200	Enhancers	Primary T cells fromperipheralblood	blood
34	chr1:239880000-239880800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:239880000-239881200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr1:239880000-239881600	Flanking Active TSS	Dnd41	blood
37	chr1:239880000-239885800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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