Variant report

Variant	rs9347123
Chromosome Location	chr6:166734653-166734654
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:166733862..166736433-chr6:166795444..166796980,2	K562	blood:

Variant related genes	Relation type
ENSG00000261420	Chromatin interaction
ENSG00000060762	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10946158	0.83[CHB][hapmap]
rs11752886	0.83[CHB][hapmap]
rs12198613	0.83[CHB][hapmap]
rs12209616	0.87[ASN][1000 genomes]
rs12214812	0.83[CHB][hapmap]
rs1830558	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4144886	0.83[CHB][hapmap]
rs4144887	0.83[CHB][hapmap]
rs4144888	0.83[CHB][hapmap]
rs4709111	1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4710042	1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68016351	0.87[ASN][1000 genomes]
rs6916128	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7088	1.00[ASN][1000 genomes]
rs73263155	0.87[ASN][1000 genomes]
rs73788236	0.87[ASN][1000 genomes]
rs7767887	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs927190	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9348119	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9348121	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9355571	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9366004	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs941683	0.83[CHB][hapmap]
rs9457165	0.86[YRI][hapmap]
rs9459653	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886934	chr6:166642850-166747572	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9347123	LOC135043	cis	multi-tissue	Pritchard

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166722600-166735600	Weak transcription	Brain Angular Gyrus	brain
2	chr6:166723200-166735400	Weak transcription	Brain Substantia Nigra	brain
3	chr6:166723200-166735600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr6:166723200-166738800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:166723200-166744200	Weak transcription	Right Atrium	heart
6	chr6:166723600-166735800	Weak transcription	Brain Anterior Caudate	brain
7	chr6:166723800-166736000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr6:166727400-166734800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:166727400-166736400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:166727400-166739000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr6:166727600-166736400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:166727800-166736200	Weak transcription	Fetal Lung	lung
13	chr6:166728000-166735800	Weak transcription	NHLF	lung
14	chr6:166728400-166734800	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:166728400-166736400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr6:166728600-166735800	Weak transcription	Ovary	ovary
17	chr6:166728600-166736400	Weak transcription	NHDF-Ad	bronchial
18	chr6:166728600-166737800	Weak transcription	Brain Germinal Matrix	brain
19	chr6:166729000-166745400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:166729200-166744200	Weak transcription	Stomach Mucosa	stomach
21	chr6:166729600-166734800	Weak transcription	Colonic Mucosa	Colon
22	chr6:166729600-166735800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr6:166729600-166744000	Weak transcription	Small Intestine	intestine
24	chr6:166730000-166734800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr6:166730000-166734800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:166730400-166736200	Weak transcription	NH-A	brain
27	chr6:166730400-166740600	Weak transcription	Fetal Kidney	kidney
28	chr6:166730400-166744200	Weak transcription	Fetal Brain Male	brain
29	chr6:166730600-166739000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:166730800-166736600	Weak transcription	NHEK	skin
31	chr6:166730800-166739000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:166731000-166736400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr6:166731200-166735400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr6:166731400-166739000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr6:166731400-166742800	Strong transcription	Fetal Intestine Small	intestine
36	chr6:166731400-166742800	Strong transcription	Fetal Stomach	stomach
37	chr6:166731600-166736200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr6:166731600-166739000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr6:166731600-166743000	Strong transcription	Thymus	Thymus
40	chr6:166731800-166738400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:166731800-166739000	Weak transcription	A549	lung
42	chr6:166731800-166742600	Strong transcription	Placenta	Placenta
43	chr6:166731800-166742800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr6:166731800-166743000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:166731800-166743000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr6:166731800-166743400	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr6:166732000-166738400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:166732000-166740200	Strong transcription	Fetal Brain Female	brain
49	chr6:166732000-166742800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr6:166732000-166743000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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