Variant report

Variant	rs827544
Chromosome Location	chr8:104326559-104326560
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12680121	1.00[CEU][hapmap]
rs1610204	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16870345	0.82[AFR][1000 genomes]
rs16870347	0.82[AFR][1000 genomes]
rs16870349	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs17207827	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17228576	1.00[CEU][hapmap]
rs17801975	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17802011	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17802089	1.00[CEU][hapmap]
rs2687347	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2687355	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2687367	1.00[CEU][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2917546	1.00[CEU][hapmap]
rs2917547	1.00[CEU][hapmap]
rs2917548	1.00[CEU][hapmap]
rs2934725	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3098226	1.00[CEU][hapmap]
rs3134257	1.00[CEU][hapmap]
rs3134260	1.00[CEU][hapmap]
rs3134269	1.00[CEU][hapmap]
rs59556900	0.82[AFR][1000 genomes]
rs60542330	0.82[AFR][1000 genomes]
rs6468868	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7005750	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs703808	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs703809	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827525	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827527	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827529	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827531	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827532	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827542	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827543	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827545	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827548	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs827549	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827551	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827553	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs827589	1.00[CEU][hapmap]
rs827591	0.82[EUR][1000 genomes]
rs860410	0.89[EUR][1000 genomes]
rs861169	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1023181	chr8:104298542-104366365	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
7	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv527031	chr8:104320928-104333838	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104311600-104343600	Weak transcription	Spleen	Spleen
2	chr8:104311800-104327800	Weak transcription	Pancreas	Pancrea
3	chr8:104311800-104331200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:104311800-104331400	Weak transcription	Liver	Liver
5	chr8:104311800-104331400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr8:104311800-104343600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:104312000-104326600	Weak transcription	Gastric	stomach
8	chr8:104312000-104337200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr8:104312000-104337200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr8:104312000-104343800	Weak transcription	Small Intestine	intestine
11	chr8:104312000-104348400	Weak transcription	Thymus	Thymus
12	chr8:104312000-104350200	Weak transcription	Esophagus	oesophagus
13	chr8:104312200-104337200	Weak transcription	Brain Anterior Caudate	brain
14	chr8:104312200-104337800	Weak transcription	Primary T cells from cord blood	blood
15	chr8:104312200-104339000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:104312400-104331400	Weak transcription	Fetal Stomach	stomach
17	chr8:104312400-104332600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:104312400-104345000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:104312400-104345000	Weak transcription	Right Ventricle	heart
20	chr8:104312400-104350000	Weak transcription	Lung	lung
21	chr8:104312600-104327400	Weak transcription	A549	lung
22	chr8:104312600-104337200	Weak transcription	Brain Angular Gyrus	brain
23	chr8:104312600-104342400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr8:104312600-104344800	Weak transcription	Fetal Intestine Small	intestine
25	chr8:104312600-104350000	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:104313200-104327600	Weak transcription	HepG2	liver
27	chr8:104313200-104336800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:104317200-104328200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:104317400-104354000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr8:104317600-104345800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:104317800-104331200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:104318000-104333800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:104318000-104345200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:104318200-104328000	Weak transcription	Fetal Heart	heart
35	chr8:104318200-104342600	Weak transcription	Brain Substantia Nigra	brain
36	chr8:104318600-104343400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr8:104319200-104327200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:104319400-104334000	Weak transcription	Brain Hippocampus Middle	brain
39	chr8:104319400-104347200	Weak transcription	Hela-S3	cervix
40	chr8:104320400-104326600	Weak transcription	Left Ventricle	heart
41	chr8:104320400-104331000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:104320400-104343600	Weak transcription	Fetal Intestine Large	intestine
43	chr8:104320600-104327600	Weak transcription	GM12878-XiMat	blood
44	chr8:104320600-104337200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:104320800-104337000	Weak transcription	HSMMtube	muscle
46	chr8:104321000-104327400	Weak transcription	HSMM	muscle
47	chr8:104321000-104328200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:104321000-104331400	Weak transcription	Ovary	ovary
49	chr8:104321200-104328200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:104321200-104330800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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