Variant report

Variant	rs13428569
Chromosome Location	chr2:153291098-153291099
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153290893..153293486-chr2:153295142..153297714,3	K562	blood:
2	chr2:153288374..153290772-chr2:153291020..153293093,2	K562	blood:
3	chr2:153290893..153293796-chr2:153295142..153299190,4	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13386403	1.00[CEU][hapmap];0.83[CHB][hapmap];0.80[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13391023	0.91[CEU][hapmap];0.86[JPT][hapmap];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13396439	0.96[EUR][1000 genomes]
rs13397890	0.96[EUR][1000 genomes]
rs13405110	0.96[EUR][1000 genomes]
rs13405868	0.88[EUR][1000 genomes]
rs13414887	0.96[EUR][1000 genomes]
rs13418748	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs13419000	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs13419948	0.88[EUR][1000 genomes]
rs13427076	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13430448	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2345873	0.91[CEU][hapmap];0.86[CHD][hapmap];0.92[GIH][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs3811577	1.00[CEU][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];0.86[JPT][hapmap];0.89[TSI][hapmap];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3890370	0.91[CEU][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs56095564	0.91[EUR][1000 genomes]
rs61292193	0.91[EUR][1000 genomes]
rs6737699	0.86[MEX][hapmap]
rs6761815	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73967855	0.88[EUR][1000 genomes]
rs73967856	0.88[EUR][1000 genomes]
rs73967858	0.95[EUR][1000 genomes]
rs73967990	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153278800-153291200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:153280000-153305200	Enhancers	Brain Cingulate Gyrus	brain
3	chr2:153281600-153291600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:153282600-153304400	Enhancers	Brain Anterior Caudate	brain
5	chr2:153284200-153291600	Enhancers	Brain Angular Gyrus	brain
6	chr2:153285800-153292200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:153286200-153291600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr2:153286200-153301000	Enhancers	Brain Hippocampus Middle	brain
9	chr2:153286400-153291800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:153286400-153305200	Enhancers	Brain Substantia Nigra	brain
11	chr2:153287400-153291200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:153287400-153291400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:153287400-153291400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:153287600-153291200	Enhancers	Adipose Nuclei	Adipose
15	chr2:153287600-153291400	Enhancers	Fetal Stomach	stomach
16	chr2:153287600-153291800	Enhancers	HepG2	liver
17	chr2:153287800-153291200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:153287800-153291200	Enhancers	Colon Smooth Muscle	Colon
19	chr2:153288000-153291200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:153288000-153291400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:153288000-153291600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr2:153288000-153292000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:153288200-153291800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr2:153288200-153291800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:153288400-153291400	Enhancers	Rectal Smooth Muscle	rectum
26	chr2:153288600-153292000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:153288800-153291600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:153288800-153291600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:153288800-153291600	Enhancers	H9 Cell Line	embryonic stem cell
30	chr2:153288800-153291600	Enhancers	Fetal Lung	lung
31	chr2:153288800-153291800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:153288800-153291800	Enhancers	Ovary	ovary
33	chr2:153289200-153291600	Enhancers	Psoas Muscle	Psoas
34	chr2:153289200-153293600	Weak transcription	Fetal Brain Male	brain
35	chr2:153289200-153293800	Weak transcription	Fetal Brain Female	brain
36	chr2:153289200-153296800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:153289200-153301800	Weak transcription	NH-A	brain
38	chr2:153289400-153291600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr2:153289400-153291600	Enhancers	A549	lung
40	chr2:153289600-153291600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr2:153289600-153296600	Weak transcription	Small Intestine	intestine
42	chr2:153289600-153301400	Weak transcription	Fetal Thymus	thymus
43	chr2:153289800-153291600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr2:153289800-153291800	Enhancers	Brain Germinal Matrix	brain
45	chr2:153290000-153291800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:153290000-153291800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:153290200-153291400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:153290200-153291400	Weak transcription	NHEK	skin
49	chr2:153290200-153294800	Weak transcription	Fetal Muscle Leg	muscle
50	chr2:153290200-153300400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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