Variant report

Variant	rs4148897
Chromosome Location	chr11:45677029-45677030
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45671225..45673031-chr11:45675062..45677985,2	K562	blood:
2	chr11:45427814..45428397-chr11:45676543..45677286,2	MCF-7	breast:
3	chr11:45676348..45677919-chr11:45792905..45794177,5	K562	blood:
4	chr11:45392488..45393362-chr11:45676466..45677098,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255267	Chromatin interaction
ENSG00000205106	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10769157	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10769160	0.96[ASN][1000 genomes]
rs1078720	0.88[ASN][1000 genomes]
rs11038597	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11038608	0.87[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.92[MKK][hapmap];0.87[TSI][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12804655	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1348964	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1348965	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1447569	1.00[CEU][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34264431	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36106594	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4148893	0.96[ASN][1000 genomes]
rs4148894	0.96[ASN][1000 genomes]
rs4148900	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4148904	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs45486999	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs45604433	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4755332	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4756008	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55681357	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7121696	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs750398	0.86[ASN][1000 genomes]
rs895729	0.86[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs895734	0.86[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]

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	nsv897311	chr11:45663568-45691118	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv897312	chr11:45663568-45699134	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv897313	chr11:45670395-45699134	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv554197	chr11:45673014-45679212	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv554198	chr11:45674266-45684117	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4148897	CHST1	cis	parietal	SCAN

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45665600-45680000	Weak transcription	Gastric	stomach
2	chr11:45670000-45680200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:45673600-45677200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:45673800-45677400	Enhancers	Fetal Muscle Leg	muscle
5	chr11:45674000-45677200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:45674200-45679800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:45674600-45679800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:45675600-45677800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr11:45675600-45679800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:45675800-45677200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr11:45675800-45677400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr11:45675800-45677400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:45675800-45677400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr11:45676000-45677600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:45676000-45677800	Enhancers	Brain Germinal Matrix	brain
16	chr11:45676200-45677400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr11:45676200-45677800	Enhancers	Fetal Brain Male	brain
18	chr11:45676400-45677200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr11:45676400-45677200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr11:45676400-45677200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr11:45676400-45677400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr11:45676400-45677400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr11:45676400-45677400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:45676400-45677400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr11:45676400-45677400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:45676400-45677400	Enhancers	Brain Substantia Nigra	brain
27	chr11:45676400-45677400	Enhancers	Right Ventricle	heart
28	chr11:45676400-45677400	Enhancers	Spleen	Spleen
29	chr11:45676400-45677800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:45676400-45677800	Enhancers	HUVEC	blood vessel
31	chr11:45676600-45677200	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr11:45676600-45677200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:45676600-45677200	Enhancers	NH-A	brain
34	chr11:45676600-45677400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr11:45676600-45677400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr11:45676600-45677400	Enhancers	Left Ventricle	heart
37	chr11:45676600-45677400	Enhancers	Dnd41	blood
38	chr11:45676800-45677200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr11:45676800-45677200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:45676800-45677200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr11:45676800-45677200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:45676800-45677200	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr11:45676800-45677200	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr11:45676800-45677200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr11:45676800-45677400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:45676800-45677400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr11:45676800-45677400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
48	chr11:45676800-45677800	Weak transcription	Psoas Muscle	Psoas
49	chr11:45676800-45680000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:45677000-45677200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived

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