Variant report

Variant	rs13427076
Chromosome Location	chr2:153293286-153293287
allele	A/T
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	chr2:153292111..153294538-chr2:153295389..153297275,2	MCF-7	breast:
3	chr2:153290893..153293796-chr2:153295142..153299190,4	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10173899	0.94[JPT][hapmap]
rs10179418	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10194603	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs10208776	0.94[JPT][hapmap]
rs10432493	0.94[JPT][hapmap]
rs11674872	0.82[JPT][hapmap]
rs12693378	0.94[JPT][hapmap]
rs13011152	0.81[ASN][1000 genomes]
rs13386403	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs13390698	0.83[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13391023	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs13396439	0.84[EUR][1000 genomes]
rs13397890	0.84[EUR][1000 genomes]
rs13405110	0.84[EUR][1000 genomes]
rs13414887	0.84[EUR][1000 genomes]
rs13419000	0.82[CEU][hapmap]
rs13424038	0.84[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs13428569	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13430448	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs16831169	0.94[JPT][hapmap]
rs16831174	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs2345873	0.82[CEU][hapmap]
rs2346205	0.94[JPT][hapmap]
rs2346209	0.94[JPT][hapmap]
rs2881339	0.94[JPT][hapmap]
rs3811577	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs3890370	0.82[CEU][hapmap]
rs4143274	0.94[JPT][hapmap]
rs4146259	0.88[JPT][hapmap]
rs4664587	0.94[JPT][hapmap]
rs58121347	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6434059	0.94[JPT][hapmap]
rs6713348	0.82[ASN][1000 genomes]
rs6725661	0.94[JPT][hapmap]
rs6737699	0.84[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6747765	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6748954	0.84[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6761815	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs73002264	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73967858	0.83[EUR][1000 genomes]
rs73967990	0.84[EUR][1000 genomes]
rs7559217	0.84[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap]
rs7582984	0.94[JPT][hapmap]
rs7586195	0.94[JPT][hapmap]
rs7587794	0.84[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs7606592	0.94[JPT][hapmap]

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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153280000-153305200	Enhancers	Brain Cingulate Gyrus	brain
2	chr2:153282600-153304400	Enhancers	Brain Anterior Caudate	brain
3	chr2:153286200-153301000	Enhancers	Brain Hippocampus Middle	brain
4	chr2:153286400-153305200	Enhancers	Brain Substantia Nigra	brain
5	chr2:153289200-153293600	Weak transcription	Fetal Brain Male	brain
6	chr2:153289200-153293800	Weak transcription	Fetal Brain Female	brain
7	chr2:153289200-153296800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:153289200-153301800	Weak transcription	NH-A	brain
9	chr2:153289600-153296600	Weak transcription	Small Intestine	intestine
10	chr2:153289600-153301400	Weak transcription	Fetal Thymus	thymus
11	chr2:153290200-153294800	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:153290200-153300400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:153290400-153296000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:153290800-153296200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:153291200-153294000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:153291200-153295200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:153291200-153296600	Weak transcription	Adipose Nuclei	Adipose
18	chr2:153291200-153300600	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:153291400-153293600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:153291400-153293800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:153291400-153293800	Weak transcription	Fetal Stomach	stomach
22	chr2:153291400-153294000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:153291400-153294200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:153291400-153294200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:153291600-153293400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:153291600-153293400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:153291600-153293400	Weak transcription	Psoas Muscle	Psoas
28	chr2:153291600-153293600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:153291600-153293800	Weak transcription	Fetal Lung	lung
30	chr2:153291600-153294000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:153291600-153294200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:153291600-153294800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:153291600-153296200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:153291600-153296600	Weak transcription	Placenta	Placenta
35	chr2:153291600-153300000	Weak transcription	Right Atrium	heart
36	chr2:153291600-153305200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr2:153291800-153294000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:153291800-153294000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:153291800-153294600	Weak transcription	HepG2	liver
40	chr2:153291800-153294800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:153291800-153294800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:153291800-153294800	Weak transcription	Ovary	ovary
43	chr2:153291800-153294800	Weak transcription	NHEK	skin
44	chr2:153291800-153300000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:153292000-153293600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:153292000-153294000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:153292800-153293400	Enhancers	Aorta	Aorta
48	chr2:153292800-153297200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr2:153292800-153298000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:153293000-153293600	Enhancers	Skeletal Muscle Female	skeletal muscle

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