Variant report

Variant	rs895734
Chromosome Location	chr11:45684254-45684255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45672171..45675080-chr11:45682496..45685022,2	K562	blood:

Variant related genes	Relation type
ENSG00000255091	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1026078	0.92[ASW][hapmap];0.84[LWK][hapmap];0.81[MKK][hapmap];0.88[AFR][1000 genomes]
rs10769159	0.84[AFR][1000 genomes]
rs10769160	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1078720	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10838504	0.88[AFR][1000 genomes]
rs11038608	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs11603055	0.95[AFR][1000 genomes]
rs12420703	1.00[ASW][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs12804655	0.96[ASN][1000 genomes]
rs1348963	0.87[EUR][1000 genomes]
rs1447569	0.92[JPT][hapmap]
rs34264431	0.99[ASN][1000 genomes]
rs36106594	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4148893	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148897	0.86[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4148899	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs4148901	1.00[ASW][hapmap];0.96[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs4148904	1.00[JPT][hapmap]
rs45486999	0.99[ASN][1000 genomes]
rs45604433	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs55681357	0.99[ASN][1000 genomes]
rs7121696	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs750398	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs895729	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895733	0.94[AFR][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	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs895734	CHST1	cis	parietal	SCAN
rs895734	F2	cis	cerebellum	SCAN
rs895734	OR4C45	cis	cerebellum	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45678400-45685200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:45679600-45685400	Enhancers	Ovary	ovary
3	chr11:45680000-45688000	Enhancers	Fetal Brain Male	brain
4	chr11:45680200-45686000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:45680800-45684400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:45680800-45684600	Weak transcription	Gastric	stomach
7	chr11:45680800-45684800	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr11:45681600-45685600	Weak transcription	Right Atrium	heart
9	chr11:45682000-45686200	Flanking Active TSS	Fetal Brain Female	brain
10	chr11:45682200-45684800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:45682400-45686600	Bivalent Enhancer	Fetal Lung	lung
12	chr11:45682800-45684400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr11:45682800-45685800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
14	chr11:45682800-45685800	Bivalent Enhancer	Fetal Stomach	stomach
15	chr11:45682800-45685800	Enhancers	Lung	lung
16	chr11:45683000-45686200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:45683200-45684800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:45683200-45685200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr11:45683400-45684400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:45683400-45685600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:45683400-45685600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
22	chr11:45683400-45686000	Bivalent Enhancer	Placenta	Placenta
23	chr11:45683400-45686200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:45683600-45684600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:45683600-45685800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
26	chr11:45683800-45684800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr11:45683800-45684800	Weak transcription	Left Ventricle	heart
28	chr11:45683800-45685600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
29	chr11:45683800-45685800	Enhancers	A549	lung
30	chr11:45684000-45684400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr11:45684000-45684600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:45684000-45684600	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr11:45684000-45684800	Enhancers	Right Ventricle	heart
34	chr11:45684000-45684800	Weak transcription	Spleen	Spleen
35	chr11:45684000-45685200	Enhancers	HSMM	muscle
36	chr11:45684000-45685400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
37	chr11:45684000-45685600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:45684000-45685800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:45684200-45684400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
40	chr11:45684200-45684400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
41	chr11:45684200-45684400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
42	chr11:45684200-45684400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:45684200-45684400	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr11:45684200-45684400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr11:45684200-45684400	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
46	chr11:45684200-45684400	Bivalent Enhancer	Fetal Heart	heart
47	chr11:45684200-45684400	Bivalent/Poised TSS	Fetal Kidney	kidney
48	chr11:45684200-45684400	Flanking Bivalent TSS/Enh	NHLF	lung
49	chr11:45684200-45684600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
50	chr11:45684200-45684600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain

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