Variant report

Variant	rs179271
Chromosome Location	chr6:39079103-39079104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:39075459..39077440-chr6:39078342..39080269,2	K562	blood:

Variant related genes	Relation type
ENSG00000112167	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs170643	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs192031	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2143733	0.85[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs2746304	0.86[MEX][hapmap]
rs2894420	1.00[JPT][hapmap]
rs6458094	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9470967	0.81[EUR][1000 genomes]

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	nsv1028088	chr6:38821047-39163549	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS 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	10 gene(s)	inside rSNPs	diseases
2	nsv538205	chr6:38821047-39163549	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs179271	DNAH8	cis	cerebellum	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39043400-39082000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:39068200-39082000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:39069800-39081800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:39070200-39081600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:39070200-39081600	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:39070200-39081800	Weak transcription	NH-A	brain
7	chr6:39070400-39081800	Weak transcription	HUVEC	blood vessel
8	chr6:39070800-39081400	Weak transcription	Osteobl	bone
9	chr6:39070800-39082000	Weak transcription	NHLF	lung
10	chr6:39071200-39081400	Weak transcription	NHEK	skin
11	chr6:39071200-39082000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:39071400-39081800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr6:39071600-39081600	Weak transcription	A549	lung
14	chr6:39071800-39082000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:39073400-39081400	Weak transcription	NHDF-Ad	bronchial
16	chr6:39073400-39081800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:39073400-39082000	Weak transcription	Brain Angular Gyrus	brain
18	chr6:39073400-39082200	Weak transcription	Ovary	ovary
19	chr6:39073600-39081400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:39073600-39081800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr6:39073600-39081800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr6:39073600-39082000	Weak transcription	Colonic Mucosa	Colon
23	chr6:39075800-39079600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:39076200-39079600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:39076400-39079400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:39076800-39079400	Strong transcription	Liver	Liver
27	chr6:39076800-39081600	Weak transcription	Fetal Brain Male	brain
28	chr6:39077000-39082000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:39077000-39082000	Weak transcription	Stomach Mucosa	stomach
30	chr6:39077000-39082200	Weak transcription	Gastric	stomach
31	chr6:39077000-39082200	Weak transcription	Small Intestine	intestine
32	chr6:39077200-39081200	Weak transcription	Fetal Heart	heart
33	chr6:39077200-39082000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:39077200-39082000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:39077200-39082200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:39077400-39081200	Weak transcription	Fetal Intestine Small	intestine
37	chr6:39077400-39082200	Weak transcription	Pancreas	Pancrea
38	chr6:39077600-39080400	Weak transcription	Brain Germinal Matrix	brain
39	chr6:39077600-39081400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:39077600-39081400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:39077600-39081400	Weak transcription	Fetal Brain Female	brain
42	chr6:39077800-39080600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr6:39077800-39081600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr6:39077800-39082200	Weak transcription	Esophagus	oesophagus
45	chr6:39078000-39081200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:39078000-39081200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr6:39078000-39081800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:39078000-39081800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr6:39078000-39082000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:39078000-39082200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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