Variant report

Variant	rs9804389
Chromosome Location	chr10:43638459-43638460
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:43634643..43637619-chr10:43638128..43641213,3	K562	blood:
2	chr10:43632375..43637619-chr10:43637956..43641272,5	K562	blood:

Variant related genes	Relation type
ENSG00000273008	Chromatin interaction
ENSG00000169826	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11238439	0.89[AFR][1000 genomes]
rs11238480	0.87[AFR][1000 genomes]
rs11239864	1.00[YRI][hapmap]
rs12253448	0.89[AFR][1000 genomes]
rs12265984	0.87[AFR][1000 genomes]
rs1879301	1.00[YRI][hapmap]
rs60627376	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv1038102	chr10:43441601-43642908	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv895082	chr10:43530071-43755506	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv895083	chr10:43549708-43765485	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1051701	chr10:43555542-43642895	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv916378	chr10:43622151-43868356	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1042310	chr10:43623060-43688505	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43634800-43641000	Weak transcription	Stomach Mucosa	stomach
2	chr10:43634800-43646800	Weak transcription	Left Ventricle	heart
3	chr10:43634800-43652200	Weak transcription	Gastric	stomach
4	chr10:43635000-43639000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr10:43635000-43639600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:43635000-43641600	Weak transcription	Psoas Muscle	Psoas
7	chr10:43635200-43638800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr10:43635200-43641800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr10:43635400-43639200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr10:43635400-43639600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr10:43635400-43641200	Weak transcription	Brain Substantia Nigra	brain
12	chr10:43635400-43642400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr10:43635400-43644200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr10:43635400-43655600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr10:43635600-43639600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr10:43635600-43647000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr10:43635600-43689000	Weak transcription	Esophagus	oesophagus
18	chr10:43635800-43639000	Weak transcription	Fetal Brain Female	brain
19	chr10:43635800-43639600	Weak transcription	Brain Anterior Caudate	brain
20	chr10:43635800-43642000	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr10:43636000-43641800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr10:43636200-43641600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr10:43636400-43639000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr10:43636400-43640200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr10:43636400-43647000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr10:43636600-43638600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr10:43636600-43638600	Enhancers	Primary B cells from cord blood	blood
28	chr10:43636600-43638600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr10:43636600-43639000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr10:43636600-43639400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr10:43636600-43639400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr10:43636600-43640400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr10:43636600-43640600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr10:43636600-43641000	Weak transcription	A549	lung
35	chr10:43636600-43641400	Weak transcription	Brain Germinal Matrix	brain
36	chr10:43636600-43641800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr10:43636600-43642200	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr10:43636600-43646800	Weak transcription	NHLF	lung
39	chr10:43636600-43654800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr10:43636600-43655600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr10:43636800-43639400	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr10:43636800-43640800	Weak transcription	Small Intestine	intestine
43	chr10:43637200-43639000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr10:43637200-43641400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr10:43637400-43639000	Weak transcription	NHDF-Ad	bronchial
46	chr10:43637400-43639200	Active TSS	GM12878-XiMat	blood
47	chr10:43637400-43640400	Weak transcription	HUVEC	blood vessel
48	chr10:43637400-43640400	Weak transcription	Osteobl	bone
49	chr10:43637400-43641600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr10:43637400-43642000	Enhancers	Primary neutrophils fromperipheralblood	blood

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