Variant report

Variant	rs1869031
Chromosome Location	chr2:187398616-187398617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187397454..187400550-chr2:187453659..187456289,3	MCF-7	breast:
2	chr2:187392523..187394451-chr2:187396324..187399095,3	K562	blood:
3	chr2:187397253..187399860-chr2:187417880..187419525,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138448	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10181681	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1020235	0.89[ASN][1000 genomes]
rs10497672	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11675633	0.81[EUR][1000 genomes]
rs11675656	0.93[EUR][1000 genomes]
rs11678950	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11690758	0.83[EUR][1000 genomes]
rs11692347	0.85[EUR][1000 genomes]
rs11888432	0.95[EUR][1000 genomes]
rs11903027	0.85[EUR][1000 genomes]
rs13392819	0.81[EUR][1000 genomes]
rs13394241	0.94[EUR][1000 genomes]
rs13401304	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs1448848	0.81[EUR][1000 genomes]
rs1448849	0.81[EUR][1000 genomes]
rs16827968	0.94[EUR][1000 genomes]
rs16827994	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2197139	0.83[EUR][1000 genomes]
rs6709401	0.83[EUR][1000 genomes]
rs6728382	0.80[EUR][1000 genomes]
rs6744717	0.81[EUR][1000 genomes]
rs72897386	0.81[EUR][1000 genomes]
rs72901315	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72901322	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7584137	0.83[EUR][1000 genomes]
rs7603088	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
3	nsv459988	chr2:187364878-187440683	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv584031	chr2:187364878-187440683	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1004309	chr2:187389880-187455946	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv536082	chr2:187389880-187455946	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv875552	chr2:187393729-187505486	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1869031	ZC3H15	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187363000-187408800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:187367200-187405800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:187371000-187407800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:187374400-187398800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:187381800-187406600	Weak transcription	NHEK	skin
6	chr2:187386200-187405200	Weak transcription	HSMM	muscle
7	chr2:187386200-187408000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:187388000-187399000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:187395400-187399600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:187397000-187399400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:187397000-187399600	Enhancers	Osteobl	bone
12	chr2:187397200-187399000	Enhancers	HUVEC	blood vessel
13	chr2:187397200-187399600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:187397400-187398800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr2:187397400-187399000	Enhancers	Fetal Intestine Large	intestine
16	chr2:187397400-187399000	Enhancers	NH-A	brain
17	chr2:187397400-187399600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:187397400-187400000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:187397600-187399000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:187397600-187399000	Enhancers	Fetal Intestine Small	intestine
21	chr2:187397800-187398800	Weak transcription	Stomach Mucosa	stomach
22	chr2:187397800-187399400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:187397800-187399400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr2:187397800-187399400	Enhancers	A549	lung
25	chr2:187398000-187399400	Enhancers	Brain Anterior Caudate	brain
26	chr2:187398000-187399600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:187398200-187399200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:187398200-187399600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:187398400-187399000	Enhancers	Liver	Liver
30	chr2:187398600-187398800	Enhancers	HepG2	liver

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