Variant report

Variant	rs17710558
Chromosome Location	chr8:10274827-10274828
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17708090	1.00[ASW][hapmap]
rs17708276	1.00[ASW][hapmap]
rs73195306	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs73195322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking 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	32 gene(s)	inside rSNPs	diseases
4	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv527326	chr8:10199548-10320019	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv465460	chr8:10241411-10290566	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv610265	chr8:10241411-10290566	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv610266	chr8:10250758-10294330	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv1019701	chr8:10254709-10279269	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv890348	chr8:10265712-10289663	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17710558	HBG2	trans	brain	seeQTL
rs17710558	HBG1	trans	brain	seeQTL
rs17710558	DPYD	trans	lymphoblastoid	seeQTL

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10192600-10282400	Weak transcription	Gastric	stomach
2	chr8:10249000-10275200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:10262000-10275200	Weak transcription	Psoas Muscle	Psoas
4	chr8:10263600-10275200	Weak transcription	Pancreas	Pancrea
5	chr8:10263600-10283400	Weak transcription	Fetal Intestine Small	intestine
6	chr8:10267800-10275200	Weak transcription	Right Atrium	heart
7	chr8:10268200-10275200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:10269600-10275000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:10270000-10275200	Weak transcription	Brain Anterior Caudate	brain
10	chr8:10270800-10275000	Weak transcription	Liver	Liver
11	chr8:10270800-10275800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:10271000-10281200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr8:10272400-10276600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:10272600-10275200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr8:10272600-10275200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:10272800-10276000	Enhancers	Spleen	Spleen
17	chr8:10273400-10275000	Weak transcription	Primary B cells from cord blood	blood
18	chr8:10273800-10275200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr8:10274000-10275000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:10274000-10276000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:10274000-10277400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:10274000-10277600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:10274000-10277600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:10274200-10275000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr8:10274200-10275000	Enhancers	Fetal Brain Female	brain
26	chr8:10274200-10275200	Enhancers	H9 Cell Line	embryonic stem cell
27	chr8:10274200-10275200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr8:10274200-10275200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:10274200-10277200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr8:10274400-10276000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:10274400-10276000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr8:10274400-10276000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:10274400-10276000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:10274400-10276000	Enhancers	HSMMtube	muscle
35	chr8:10274600-10275000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr8:10274600-10275200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr8:10274600-10276000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:10274600-10276000	Enhancers	HSMM	muscle
39	chr8:10274600-10276200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:10274600-10276200	Enhancers	Brain Angular Gyrus	brain
41	chr8:10274600-10276200	Enhancers	NH-A	brain
42	chr8:10274600-10276800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:10274600-10277200	Enhancers	Fetal Brain Male	brain
44	chr8:10274800-10275200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr8:10274800-10275200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
46	chr8:10274800-10275400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:10274800-10275400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr8:10274800-10275400	Enhancers	Primary T cells from cord blood	blood
49	chr8:10274800-10275400	Enhancers	Brain Germinal Matrix	brain
50	chr8:10274800-10275600	Enhancers	HUES6 Cell Line	embryonic stem cell

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