Variant report

Variant	rs9349337
Chromosome Location	chr6:45901916-45901917
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45896169..45897673-chr6:45900583..45902413,2	K562	blood:
2	chr6:45896173..45899025-chr6:45900583..45902149,3	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10948265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2095771	0.96[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3777567	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3777568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3777573	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3777585	1.00[MEX][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes]
rs3798262	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[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	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv517891	chr6:45899823-45915088	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9349337	PTCRA	cis	parietal	SCAN
rs9349337	CDC5L	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45881200-45908000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr6:45886800-45910600	Weak transcription	Psoas Muscle	Psoas
3	chr6:45895400-45910800	Weak transcription	Placenta	Placenta
4	chr6:45898200-45904400	Weak transcription	Spleen	Spleen
5	chr6:45898600-45914600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:45898600-45916800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:45898800-45903400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:45898800-45904200	Weak transcription	Colonic Mucosa	Colon
9	chr6:45898800-45911000	Weak transcription	Adipose Nuclei	Adipose
10	chr6:45898800-45919200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr6:45899000-45910600	Weak transcription	Fetal Heart	heart
12	chr6:45899200-45910000	Strong transcription	Fetal Intestine Small	intestine
13	chr6:45899400-45905400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr6:45899600-45902000	Strong transcription	Left Ventricle	heart
15	chr6:45899800-45908000	Weak transcription	Lung	lung
16	chr6:45900200-45904800	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr6:45900600-45902000	Strong transcription	Fetal Intestine Large	intestine
18	chr6:45901200-45902000	Enhancers	NH-A	brain
19	chr6:45901200-45902200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:45901200-45903200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:45901400-45902000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:45901400-45902000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
23	chr6:45901400-45902000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:45901400-45902000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:45901400-45902000	Enhancers	Osteobl	bone
26	chr6:45901400-45902200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr6:45901400-45902200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:45901400-45902200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:45901400-45902400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr6:45901400-45905000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr6:45901600-45902000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:45901600-45902000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr6:45901600-45902400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr6:45901800-45902200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr6:45901800-45902600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr6:45901800-45902600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr6:45901800-45903000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr6:45901800-45907800	Weak transcription	Right Ventricle	heart

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