Variant report

Variant	rs13422784
Chromosome Location	chr2:47514799-47514800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47398758..47404387-chr2:47507943..47515029,11	K562	blood:
2	chr2:47500386..47503208-chr2:47514636..47517593,2	K562	blood:
3	chr2:47499816..47503436-chr2:47513629..47516577,3	MCF-7	breast:
4	chr2:47401656..47405075-chr2:47511899..47514959,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10165172	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10165417	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10173957	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10176620	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10189331	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10201528	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10204097	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10204159	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10204202	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13383554	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13383788	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13384033	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13386635	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13387191	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13412502	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13412948	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13413278	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs13422346	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28851944	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56057658	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59937171	0.83[ASN][1000 genomes]
rs72806465	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72806485	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72806489	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs73926815	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv457385	chr2:47468331-47552277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv581755	chr2:47468331-47552277	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47501400-47516000	Weak transcription	Stomach Mucosa	stomach
2	chr2:47502000-47517200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:47509800-47514800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:47510800-47516000	Weak transcription	Fetal Intestine Small	intestine
5	chr2:47511400-47515800	Weak transcription	HSMMtube	muscle
6	chr2:47511600-47518400	Weak transcription	Fetal Intestine Large	intestine
7	chr2:47512000-47522400	Weak transcription	Brain Substantia Nigra	brain
8	chr2:47512200-47522400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:47512200-47523000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:47513000-47514800	Enhancers	Placenta	Placenta
11	chr2:47514000-47515000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:47514000-47515400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:47514000-47515400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:47514000-47515600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:47514200-47515200	Enhancers	HepG2	liver
16	chr2:47514200-47515400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr2:47514200-47517600	Enhancers	NHDF-Ad	bronchial
18	chr2:47514200-47517600	Enhancers	Osteobl	bone
19	chr2:47514400-47514800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr2:47514400-47515000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:47514400-47515000	Enhancers	Fetal Heart	heart
22	chr2:47514400-47515200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:47514400-47515200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:47514400-47515200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:47514400-47515200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr2:47514400-47515200	Flanking Active TSS	A549	lung
27	chr2:47514400-47515400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:47514400-47516400	Enhancers	HSMM	muscle
29	chr2:47514400-47517600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:47514400-47517600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:47514400-47517600	Enhancers	NH-A	brain
32	chr2:47514600-47514800	Enhancers	NHLF	lung
33	chr2:47514600-47515000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:47514600-47517800	Enhancers	Muscle Satellite Cultured Cells	--

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