Variant report

Variant	rs689931
Chromosome Location	chr15:43822828-43822829
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	chr15:43821060..43823469-chr15:43995355..43996867,2	K562	blood:
2	chr15:43822573..43824658-chr15:43837005..43839748,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2244981	1.00[LWK][hapmap]
rs572837	1.00[LWK][hapmap]
rs690367	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534649	chr15:43591116-43851142	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS 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	101 gene(s)	inside rSNPs	diseases
3	esv1846701	chr15:43759774-44116986	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv437799	chr15:43784000-43989518	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv518707	chr15:43802024-43826557	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv832988	chr15:43804641-43976862	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs689931	DUOXA1	cis	parietal	SCAN
rs689931	C15orf63	cis	cerebellum	SCAN
rs689931	EPB42	cis	parietal	SCAN

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43810400-43826200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:43810600-43826400	Weak transcription	Spleen	Spleen
3	chr15:43810800-43824000	Weak transcription	Fetal Kidney	kidney
4	chr15:43810800-43826000	Weak transcription	Esophagus	oesophagus
5	chr15:43811000-43828600	Weak transcription	Pancreas	Pancrea
6	chr15:43811200-43823600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr15:43811200-43826800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr15:43811400-43829200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr15:43812000-43823200	Strong transcription	Stomach Smooth Muscle	stomach
10	chr15:43812000-43844400	Weak transcription	Fetal Brain Male	brain
11	chr15:43812200-43823200	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr15:43812200-43823800	Strong transcription	NHLF	lung
13	chr15:43812400-43823200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr15:43812600-43823200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr15:43812600-43823200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:43812800-43823200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:43812800-43823800	Strong transcription	Brain Germinal Matrix	brain
18	chr15:43812800-43824200	Strong transcription	Fetal Brain Female	brain
19	chr15:43813600-43823400	Strong transcription	Fetal Intestine Small	intestine
20	chr15:43813800-43823400	Strong transcription	Dnd41	blood
21	chr15:43814400-43826200	Weak transcription	Lung	lung
22	chr15:43814600-43826000	Weak transcription	Placenta	Placenta
23	chr15:43815000-43826000	Weak transcription	Gastric	stomach
24	chr15:43815400-43823600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr15:43815400-43833600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr15:43815800-43839400	Weak transcription	Stomach Mucosa	stomach
27	chr15:43816000-43826600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:43816400-43826800	Weak transcription	Ovary	ovary
29	chr15:43816600-43826000	Weak transcription	Primary T cells from cord blood	blood
30	chr15:43816600-43826400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr15:43817000-43823000	Strong transcription	Fetal Muscle Trunk	muscle
32	chr15:43817400-43823000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr15:43817600-43823200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr15:43817600-43823200	Weak transcription	Fetal Lung	lung
35	chr15:43817600-43823600	Strong transcription	Fetal Thymus	thymus
36	chr15:43817600-43824200	Strong transcription	Thymus	Thymus
37	chr15:43817800-43826000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr15:43817800-43826000	Weak transcription	Adipose Nuclei	Adipose
39	chr15:43817800-43826600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr15:43817800-43826800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr15:43817800-43827000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr15:43818000-43835400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr15:43818000-43852600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr15:43818200-43823600	Weak transcription	Colon Smooth Muscle	Colon
45	chr15:43818200-43826000	Weak transcription	Left Ventricle	heart
46	chr15:43818200-43851600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr15:43818400-43826000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr15:43818800-43826400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr15:43819000-43823200	Weak transcription	K562	blood
50	chr15:43819000-43823400	Strong transcription	Fetal Stomach	stomach

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