Variant report

Variant	rs1448424
Chromosome Location	chr2:187507972-187507973
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187494616..187497199-chr2:187505758..187508527,2	MCF-7	breast:
2	chr2:187499878..187502863-chr2:187506604..187509520,2	K562	blood:
3	chr2:187505636..187508196-chr2:187528600..187531112,3	MCF-7	breast:
4	chr2:187498707..187501251-chr2:187505891..187509505,3	MCF-7	breast:
5	chr2:187454687..187456807-chr2:187506991..187509085,2	K562	blood:

Variant related genes	Relation type
ENSG00000138448	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10171481	0.80[CHB][hapmap]
rs10804007	0.85[CHB][hapmap]
rs11678190	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs11685758	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12151442	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12615659	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12998294	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13001028	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13006483	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs13006571	0.85[CHB][hapmap]
rs13016261	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13026081	0.87[CEU][hapmap]
rs13027560	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13028817	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13030356	1.00[CHB][hapmap]
rs17334303	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17334422	1.00[CHB][hapmap]
rs17406339	1.00[CHB][hapmap]
rs17750683	0.84[CEU][hapmap]
rs1839121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1839123	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1839124	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1992898	0.85[CHB][hapmap]
rs2084448	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2165656	0.80[CHB][hapmap]
rs2197138	0.85[CHB][hapmap]
rs2197787	0.84[CHB][hapmap]
rs2370693	0.85[CHB][hapmap]
rs2595375	0.85[CHB][hapmap]
rs2887827	0.85[CHB][hapmap]
rs34483988	0.85[EUR][1000 genomes]
rs34980163	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35251833	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3768778	0.85[CHB][hapmap]
rs3768780	0.80[CHB][hapmap]
rs3816386	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3911084	0.85[CHB][hapmap]
rs4233788	0.85[CHB][hapmap]
rs56136540	0.99[ASN][1000 genomes]
rs6717512	1.00[CHB][hapmap]
rs6741369	0.85[CHB][hapmap]
rs6748509	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753438	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7419327	1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs7575516	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7589470	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7596996	0.80[CHB][hapmap]
rs9333287	0.80[CHB][hapmap]
rs9333288	0.85[CHB][hapmap]
rs9333289	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9333290	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs998972	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187456200-187508600	Weak transcription	Esophagus	oesophagus
2	chr2:187456200-187533000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:187456600-187514000	Weak transcription	Thymus	Thymus
4	chr2:187456600-187520000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:187456800-187534400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:187457200-187533800	Weak transcription	Spleen	Spleen
7	chr2:187458000-187511400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr2:187458000-187529000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:187462800-187515400	Weak transcription	Gastric	stomach
10	chr2:187464800-187536200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:187465800-187529200	Weak transcription	Dnd41	blood
12	chr2:187466800-187533200	Weak transcription	Colonic Mucosa	Colon
13	chr2:187467200-187528600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:187467400-187515800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:187471600-187521000	Weak transcription	Aorta	Aorta
16	chr2:187476000-187519800	Weak transcription	K562	blood
17	chr2:187476600-187508600	Weak transcription	Lung	lung
18	chr2:187476800-187536200	Weak transcription	Fetal Brain Male	brain
19	chr2:187482200-187533800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:187482800-187519600	Weak transcription	Brain Anterior Caudate	brain
21	chr2:187482800-187527800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:187482800-187533200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:187482800-187533600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:187482800-187533800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:187482800-187533800	Weak transcription	Psoas Muscle	Psoas
26	chr2:187483400-187519800	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:187486600-187531400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:187487800-187510800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:187489400-187534400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:187490400-187508800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:187493800-187529200	Weak transcription	Brain Substantia Nigra	brain
32	chr2:187494200-187529200	Weak transcription	Brain Germinal Matrix	brain
33	chr2:187494200-187535800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:187494800-187531800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:187495000-187534400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:187500000-187509800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:187500000-187510000	Strong transcription	NH-A	brain
38	chr2:187500000-187510200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:187500000-187513000	Strong transcription	HUVEC	blood vessel
40	chr2:187500000-187519800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:187500200-187510000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:187500200-187513400	Strong transcription	Fetal Intestine Large	intestine
43	chr2:187500600-187510000	Strong transcription	HSMM	muscle
44	chr2:187500600-187515800	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:187501000-187548400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:187501800-187509800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:187501800-187510400	Strong transcription	Placenta	Placenta
48	chr2:187502400-187508800	Strong transcription	Duodenum Mucosa	Duodenum
49	chr2:187502400-187509200	Strong transcription	Adipose Nuclei	Adipose
50	chr2:187502400-187510200	Strong transcription	Rectal Mucosa Donor 31	rectum

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