Variant report

Variant	rs2678294
Chromosome Location	chr2:153383639-153383640
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	chr2:153377446..153381563-chr2:153382108..153385052,5	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1155778	0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1529998	0.86[ASN][1000 genomes]
rs16831263	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2577175	0.86[ASN][1000 genomes]
rs2577177	0.89[ASN][1000 genomes]
rs2577178	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2678296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2678298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2678302	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4664594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56281840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709843	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6713711	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6739300	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6739557	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72868235	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73002191	0.82[AMR][1000 genomes]
rs7579511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9967814	0.80[AFR][1000 genomes];0.82[AMR][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	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
2	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
3	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153361000-153398600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:153365600-153386000	Weak transcription	Fetal Stomach	stomach
3	chr2:153374600-153385000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:153375600-153385000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:153376000-153385200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:153376000-153388800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:153376200-153384800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:153376200-153384800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:153376600-153390600	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:153378000-153385000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:153378400-153386200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:153381200-153384200	Enhancers	Brain Cingulate Gyrus	brain
13	chr2:153381200-153388200	Enhancers	Brain Hippocampus Middle	brain
14	chr2:153381200-153388200	Enhancers	Brain Substantia Nigra	brain
15	chr2:153382000-153385000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:153382200-153384800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:153382200-153385200	Weak transcription	HepG2	liver
18	chr2:153382400-153386800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:153382400-153393400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:153382400-153398800	Weak transcription	Fetal Intestine Small	intestine
21	chr2:153382600-153384000	Enhancers	HMEC	breast
22	chr2:153382600-153386800	Weak transcription	Stomach Mucosa	stomach
23	chr2:153382800-153386200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:153382800-153387000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:153383000-153384800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:153383000-153385000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:153383000-153385000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:153383000-153385400	Weak transcription	Small Intestine	intestine
29	chr2:153383000-153386000	Weak transcription	Adipose Nuclei	Adipose
30	chr2:153383000-153386400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:153383000-153387400	Weak transcription	Fetal Kidney	kidney
32	chr2:153383000-153387800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:153383000-153388000	Weak transcription	Psoas Muscle	Psoas
34	chr2:153383000-153390800	Weak transcription	Ovary	ovary
35	chr2:153383000-153391000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:153383000-153391200	Weak transcription	Aorta	Aorta
37	chr2:153383000-153392000	Weak transcription	Lung	lung
38	chr2:153383000-153403000	Weak transcription	Right Atrium	heart
39	chr2:153383200-153384800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:153383200-153384800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:153383200-153384800	Weak transcription	Spleen	Spleen
42	chr2:153383200-153388400	Weak transcription	NHDF-Ad	bronchial
43	chr2:153383200-153393200	Weak transcription	NHEK	skin
44	chr2:153383400-153384800	Weak transcription	Brain Angular Gyrus	brain
45	chr2:153383600-153383800	Enhancers	Brain Anterior Caudate	brain
46	chr2:153383600-153391400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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