Variant report

Variant	rs9394578
Chromosome Location	chr6:39165859-39165860
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:39155353..39158584-chr6:39158946..39166191,7	K562	blood:
2	chr6:39152267..39154461-chr6:39165553..39167804,2	K562	blood:
3	chr6:39162911..39167327-chr6:39168116..39172779,6	MCF-7	breast:
4	chr6:39164203..39166595-chr6:39175692..39177360,2	K562	blood:
5	chr6:39158722..39165685-chr6:39165726..39171665,10	K562	blood:

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

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

rs_ID	r²[population]
rs10456100	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2004295	0.82[JPT][hapmap]
rs2561396	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2815095	1.00[JPT][hapmap]
rs2815116	0.87[GIH][hapmap];0.81[TSI][hapmap];0.87[AMR][1000 genomes]
rs3778448	0.82[JPT][hapmap]
rs733701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv830644	chr6:39116530-39325980	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1022974	chr6:39120271-39277553	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9394578	RPL10A	cis	cerebellum	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39149000-39168000	Weak transcription	Fetal Kidney	kidney
2	chr6:39150600-39193800	Genic enhancers	Fetal Intestine Small	intestine
3	chr6:39155400-39172400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr6:39155600-39166600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:39156400-39177200	Weak transcription	Primary T cells from cord blood	blood
6	chr6:39156600-39169600	Weak transcription	A549	lung
7	chr6:39156800-39166000	Weak transcription	Small Intestine	intestine
8	chr6:39156800-39166200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:39156800-39171200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr6:39156800-39193400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr6:39157400-39166800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:39161800-39168600	Genic enhancers	K562	blood
13	chr6:39162200-39166000	Strong transcription	Liver	Liver
14	chr6:39162200-39170200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:39163200-39167400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr6:39163400-39166800	Weak transcription	Lung	lung
17	chr6:39163600-39167600	Weak transcription	Fetal Lung	lung
18	chr6:39163600-39168400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:39163800-39167200	Weak transcription	Esophagus	oesophagus
20	chr6:39163800-39170000	Weak transcription	Ovary	ovary
21	chr6:39163800-39170000	Enhancers	Pancreas	Pancrea
22	chr6:39163800-39171200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:39163800-39174000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:39163800-39192800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr6:39164000-39167400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:39164000-39168000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr6:39164000-39171000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:39164000-39171200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr6:39164200-39166400	Enhancers	GM12878-XiMat	blood
30	chr6:39164200-39166600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr6:39164200-39167000	Enhancers	Primary B cells from peripheral blood	blood
32	chr6:39164200-39168600	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr6:39164200-39168800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:39164200-39170600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:39164200-39170800	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr6:39164200-39171200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:39164400-39166000	Enhancers	Primary B cells from cord blood	blood
38	chr6:39164400-39167800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr6:39164400-39168400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr6:39164400-39169600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:39164400-39170400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr6:39164600-39168400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr6:39164600-39173400	Enhancers	Stomach Mucosa	stomach
44	chr6:39164800-39170200	Weak transcription	Hela-S3	cervix
45	chr6:39164800-39170800	Genic enhancers	Fetal Intestine Large	intestine
46	chr6:39165000-39166800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:39165200-39166000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr6:39165200-39166000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr6:39165200-39166200	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr6:39165200-39171000	Weak transcription	H9 Cell Line	embryonic stem cell

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