Variant report

Variant	rs297567
Chromosome Location	chr8:96181247-96181248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:96170558..96173425-chr8:96180616..96182555,2	K562	blood:
2	chr8:96174791..96177726-chr8:96179691..96182819,4	K562	blood:
3	chr8:96102764..96105362-chr8:96180732..96183307,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11784806	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13257907	1.00[CHB][hapmap]
rs13261245	1.00[CHB][hapmap]
rs297565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs297569	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs297570	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs297571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4392868	1.00[CHD][hapmap]
rs7825673	1.00[CHB][hapmap]
rs7830669	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs297567	C8orf38	cis	cerebellum	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96167200-96181600	Weak transcription	Small Intestine	intestine
2	chr8:96167600-96181400	Weak transcription	Liver	Liver
3	chr8:96172200-96182600	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:96172400-96181600	Weak transcription	Lung	lung
5	chr8:96172600-96181800	Weak transcription	Pancreas	Pancrea
6	chr8:96172600-96186400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:96172600-96186800	Weak transcription	Gastric	stomach
8	chr8:96176200-96181400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:96176400-96190200	Weak transcription	Fetal Thymus	thymus
10	chr8:96177600-96182400	Enhancers	Primary B cells from cord blood	blood
11	chr8:96177800-96182400	Enhancers	Fetal Muscle Leg	muscle
12	chr8:96179400-96181400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr8:96179400-96181800	Enhancers	Fetal Brain Male	brain
14	chr8:96179400-96182400	Enhancers	Esophagus	oesophagus
15	chr8:96179600-96181800	Enhancers	Fetal Heart	heart
16	chr8:96180000-96181600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:96180000-96182000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:96180000-96182400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:96180200-96181600	Weak transcription	Left Ventricle	heart
20	chr8:96180200-96181800	Enhancers	Duodenum Mucosa	Duodenum
21	chr8:96180200-96182000	Enhancers	Brain Germinal Matrix	brain
22	chr8:96180200-96182200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:96180200-96186400	Weak transcription	Brain Anterior Caudate	brain
24	chr8:96180200-96186400	Weak transcription	Brain Substantia Nigra	brain
25	chr8:96180400-96181400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr8:96180600-96181800	Enhancers	Primary hematopoietic stem cells	blood
27	chr8:96180600-96181800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr8:96180600-96182000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr8:96180600-96182200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:96180600-96182200	Enhancers	Fetal Intestine Small	intestine
31	chr8:96180600-96182600	Enhancers	Fetal Intestine Large	intestine
32	chr8:96180800-96181600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:96180800-96181600	Enhancers	Fetal Kidney	kidney
34	chr8:96180800-96182000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr8:96180800-96182000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:96180800-96182200	Bivalent Enhancer	HepG2	liver
37	chr8:96180800-96182600	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr8:96180800-96186200	Weak transcription	Brain Hippocampus Middle	brain
39	chr8:96180800-96186800	Weak transcription	Fetal Brain Female	brain
40	chr8:96181000-96181600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr8:96181000-96181600	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr8:96181000-96181800	Enhancers	Spleen	Spleen
43	chr8:96181000-96181800	Enhancers	GM12878-XiMat	blood
44	chr8:96181000-96182200	Weak transcription	Right Ventricle	heart
45	chr8:96181000-96182400	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr8:96181000-96182400	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr8:96181200-96181600	Flanking Active TSS	K562	blood
48	chr8:96181200-96181800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr8:96181200-96183600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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