Variant report

Variant	rs9348121
Chromosome Location	chr6:166755012-166755013
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:166712983..166714666-chr6:166752860..166755099,2	K562	blood:
2	chr6:166751664..166755250-chr6:166772904..166776274,3	K562	blood:
3	chr6:166751804..166757558-chr6:166793969..166799153,5	K562	blood:
4	chr6:166754173..166757774-chr6:166795355..166798060,3	MCF-7	breast:
5	chr6:166753320..166757958-chr6:166794622..166799153,8	K562	blood:

Variant related genes	Relation type
ENSG00000261420	Chromatin interaction
ENSG00000060762	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10455809	0.87[CHB][hapmap]
rs10455977	0.85[CHB][hapmap]
rs10946158	0.82[CHB][hapmap]
rs11752886	0.82[CHB][hapmap]
rs11753652	0.82[CHB][hapmap]
rs11755305	0.87[CHB][hapmap]
rs12198613	0.82[CHB][hapmap]
rs12209616	0.85[ASN][1000 genomes]
rs12214812	0.82[CHB][hapmap]
rs1830558	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2294334	0.83[CHB][hapmap]
rs2294335	0.83[CHB][hapmap]
rs4144886	0.82[CHB][hapmap]
rs4144887	0.82[CHB][hapmap]
rs4144888	0.82[CHB][hapmap]
rs4709111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4710042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68016351	0.85[ASN][1000 genomes]
rs6916128	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7088	0.96[ASN][1000 genomes]
rs73263155	0.85[ASN][1000 genomes]
rs73788236	0.85[ASN][1000 genomes]
rs7767887	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs927190	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9347123	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]
rs9348119	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9355571	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9366004	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs941683	0.82[CHB][hapmap]
rs9459653	0.85[EUR][1000 genomes];0.87[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	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
2	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
rs9348121	LOC135043	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166739400-166755400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:166751600-166755200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:166752800-166755400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:166753000-166755200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:166753400-166755400	Enhancers	Small Intestine	intestine
6	chr6:166753400-166755800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr6:166754200-166755200	Weak transcription	Esophagus	oesophagus
8	chr6:166754200-166755200	Weak transcription	Gastric	stomach
9	chr6:166754200-166755200	Weak transcription	Pancreas	Pancrea
10	chr6:166754200-166755400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:166754400-166755200	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr6:166754600-166755200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:166754600-166755400	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr6:166754600-166755400	Flanking Active TSS	Dnd41	blood
15	chr6:166754600-166755600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:166754600-166756600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:166754600-166756600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:166754600-166756800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:166754600-166756800	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr6:166754600-166756800	Active TSS	GM12878-XiMat	blood
21	chr6:166754800-166755200	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr6:166754800-166755200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:166754800-166755200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr6:166754800-166755200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr6:166754800-166755200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr6:166754800-166755200	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr6:166754800-166755200	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr6:166754800-166755200	Enhancers	Placenta	Placenta
29	chr6:166754800-166755200	Flanking Active TSS	Thymus	Thymus
30	chr6:166754800-166755200	Flanking Active TSS	HSMM	muscle
31	chr6:166754800-166755200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr6:166754800-166755200	Flanking Active TSS	NHEK	skin
33	chr6:166754800-166755400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr6:166754800-166755400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr6:166754800-166755400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:166754800-166755400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr6:166754800-166755400	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr6:166754800-166755400	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr6:166754800-166755400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr6:166754800-166755400	Flanking Active TSS	Fetal Thymus	thymus
41	chr6:166754800-166755400	Flanking Active TSS	K562	blood
42	chr6:166754800-166755600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:166754800-166755600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr6:166754800-166755600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:166754800-166755600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:166754800-166755600	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr6:166754800-166755600	Flanking Active TSS	Fetal Muscle Leg	muscle
48	chr6:166754800-166755800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:166754800-166756200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:166754800-166756400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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