Variant report

Variant	rs2267315
Chromosome Location	chr22:34295465-34295466
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	chr22:34293649..34297424-chr22:34310921..34313948,3	MCF-7	breast:
2	chr22:34279207..34280839-chr22:34295025..34297477,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1005679	0.93[CHB][hapmap]
rs1005680	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16993248	0.93[CHB][hapmap]
rs2157153	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2213360	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2267312	0.92[CHB][hapmap]
rs2267313	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2267314	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2267316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2283957	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2283958	0.93[CHB][hapmap]
rs2283959	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2413206	0.81[EUR][1000 genomes]
rs2413207	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3919426	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5754739	0.82[CEU][hapmap]
rs5754746	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs5754748	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5754752	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs738987	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs738989	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs933215	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1066419	chr22:34231732-34553006	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv544690	chr22:34231732-34553006	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3343210	chr22:34236744-34404210	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv588938	chr22:34270568-34307875	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34286400-34296600	Weak transcription	Adipose Nuclei	Adipose
2	chr22:34287800-34298600	Enhancers	H9 Cell Line	embryonic stem cell
3	chr22:34287800-34299000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr22:34288200-34303000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:34289800-34296400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:34289800-34299200	Enhancers	Right Ventricle	heart
7	chr22:34290200-34303800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr22:34291000-34304200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr22:34291200-34295600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr22:34291200-34304200	Weak transcription	Brain Anterior Caudate	brain
11	chr22:34291200-34312800	Weak transcription	HepG2	liver
12	chr22:34291600-34303400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr22:34291800-34297800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr22:34291800-34305000	Weak transcription	Fetal Intestine Small	intestine
15	chr22:34291800-34313800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr22:34292000-34296600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr22:34292000-34304000	Weak transcription	Fetal Stomach	stomach
18	chr22:34292400-34297600	Enhancers	Right Atrium	heart
19	chr22:34292400-34299200	Enhancers	Ovary	ovary
20	chr22:34292600-34295600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr22:34292600-34295800	Enhancers	Lung	lung
22	chr22:34292600-34297400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr22:34292800-34296600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr22:34292800-34299200	Enhancers	Left Ventricle	heart
25	chr22:34293200-34295800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr22:34293400-34295600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr22:34293600-34295600	Weak transcription	Brain Hippocampus Middle	brain
28	chr22:34293600-34296200	Weak transcription	Esophagus	oesophagus
29	chr22:34293600-34298000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr22:34293600-34299200	Enhancers	Fetal Heart	heart
31	chr22:34293600-34300400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:34293600-34300600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr22:34293800-34295600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr22:34293800-34297200	Weak transcription	Gastric	stomach
35	chr22:34293800-34298000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:34293800-34298400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr22:34293800-34298800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr22:34293800-34306200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr22:34293800-34315000	Weak transcription	Pancreas	Pancrea
40	chr22:34294000-34295600	Enhancers	Psoas Muscle	Psoas
41	chr22:34294000-34295800	Enhancers	GM12878-XiMat	blood
42	chr22:34294000-34296600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr22:34294200-34295600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr22:34294200-34298600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr22:34294200-34298800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr22:34294200-34300000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr22:34294200-34310400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr22:34294600-34295600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr22:34294800-34296800	Enhancers	Brain Angular Gyrus	brain
50	chr22:34294800-34297400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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