Variant report

Variant	rs9357943
Chromosome Location	chr6:57195666-57195667
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	chr6:57182975..57187891-chr6:57191602..57197743,6	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1013893	0.92[CHB][hapmap];0.87[JPT][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1013894	0.84[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1019210	0.95[CHB][hapmap]
rs1029872	0.91[CHB][hapmap]
rs10733187	0.96[CHB][hapmap];0.82[ASN][1000 genomes]
rs1119375	0.86[CHB][hapmap]
rs12664535	0.87[CHB][hapmap];0.83[ASN][1000 genomes]
rs1618210	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1741916	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs1755833	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2013464	0.84[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2013480	0.91[CHB][hapmap]
rs2098172	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs2191651	0.86[CHB][hapmap]
rs2215511	0.91[CHB][hapmap]
rs3800015	0.92[CHB][hapmap]
rs4288209	0.90[CHB][hapmap]
rs4712144	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs4712149	0.82[CHB][hapmap]
rs4712154	0.86[CHB][hapmap]
rs4715653	0.88[ASN][1000 genomes]
rs4715654	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs4715655	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4715656	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs4715657	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6459191	0.81[ASN][1000 genomes]
rs6459193	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs7738530	0.87[CHB][hapmap]
rs7754116	0.86[ASN][1000 genomes]
rs7756422	0.83[CHB][hapmap]
rs7771738	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs9357944	0.91[CHB][hapmap];0.88[ASN][1000 genomes]
rs9382701	0.88[ASN][1000 genomes]
rs9382736	0.85[CHB][hapmap]
rs9396278	0.91[CHB][hapmap]
rs9464439	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs980327	0.92[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2758056	chr6:57184541-57562604	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	esv2759432	chr6:57184541-57562604	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1034139	chr6:57192993-57253423	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1022055	chr6:57192993-57353692	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9357943	PRIM2	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57183000-57199400	Weak transcription	HSMMtube	muscle
2	chr6:57183200-57199200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:57184000-57195800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:57184200-57201200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr6:57184600-57196000	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr6:57184600-57196200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:57184600-57199200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:57184800-57199600	Strong transcription	HSMM	muscle
9	chr6:57185200-57195800	Strong transcription	Osteobl	bone
10	chr6:57187400-57196600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr6:57190000-57199800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:57190000-57200000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:57191800-57199800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:57192000-57199600	ZNF genes & repeats	GM12878-XiMat	blood
15	chr6:57192000-57200000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:57192200-57199800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr6:57192200-57199800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr6:57192200-57199800	ZNF genes & repeats	Dnd41	blood
19	chr6:57192400-57197600	ZNF genes & repeats	NHDF-Ad	bronchial
20	chr6:57192400-57197600	Weak transcription	NHEK	skin
21	chr6:57192600-57195800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
22	chr6:57192600-57199800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:57192600-57200000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:57192800-57195800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
25	chr6:57193000-57199200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:57193000-57199400	Weak transcription	Placenta	Placenta
27	chr6:57193000-57201000	Weak transcription	Gastric	stomach
28	chr6:57193000-57203000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:57193200-57196000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:57193200-57196400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:57193400-57195800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
32	chr6:57193400-57196200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:57193600-57196200	Weak transcription	Colonic Mucosa	Colon
34	chr6:57193600-57196200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
35	chr6:57193600-57198000	Weak transcription	NH-A	brain
36	chr6:57193600-57198000	Weak transcription	NHLF	lung
37	chr6:57193600-57199400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr6:57193600-57207400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr6:57194000-57196800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr6:57194200-57195800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
41	chr6:57194200-57195800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:57194200-57195800	ZNF genes & repeats	Fetal Thymus	thymus
43	chr6:57194200-57196000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:57194200-57196600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
45	chr6:57194200-57199800	ZNF genes & repeats	Primary T cells from cord blood	blood
46	chr6:57194400-57195800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:57194400-57198600	Weak transcription	Fetal Kidney	kidney
48	chr6:57194600-57196800	Weak transcription	Primary B cells from cord blood	blood
49	chr6:57194600-57196800	Weak transcription	Liver	Liver
50	chr6:57194600-57197000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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