Variant report

Variant	rs12975212
Chromosome Location	chr19:38932213-38932214
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38927979..38929696-chr19:38931408..38933106,2	K562	blood:
2	chr19:38893127..38894225-chr19:38931822..38933070,7	K562	blood:
3	chr19:38930920..38933551-chr19:38935441..38937218,2	K562	blood:
4	chr19:38892248..38894274-chr19:38931550..38934335,2	K562	blood:
5	chr19:38931679..38934951-chr19:38935718..38940985,5	K562	blood:
6	chr19:38921950..38923966-chr19:38931220..38933035,2	K562	blood:
7	chr19:38892550..38895565-chr19:38930999..38933879,3	MCF-7	breast:
8	chr19:38902157..38904217-chr19:38930649..38933242,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000130244	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11883126	0.96[EUR][1000 genomes]
rs12971920	0.96[EUR][1000 genomes]
rs12972609	0.96[EUR][1000 genomes]
rs12972895	0.96[EUR][1000 genomes]
rs12973210	0.96[EUR][1000 genomes]
rs12974363	0.96[EUR][1000 genomes]
rs12974979	0.96[EUR][1000 genomes]
rs12982894	0.96[EUR][1000 genomes]
rs12986359	0.96[EUR][1000 genomes]
rs17640544	0.96[EUR][1000 genomes]
rs34026587	0.96[EUR][1000 genomes]
rs34158728	0.96[EUR][1000 genomes]
rs34377632	0.96[EUR][1000 genomes]
rs34456672	0.96[EUR][1000 genomes]
rs35136248	0.96[EUR][1000 genomes]
rs71356804	0.96[EUR][1000 genomes]
rs71356805	0.96[EUR][1000 genomes]
rs9916978	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv911659	chr19:38852357-39002140	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv833823	chr19:38855550-39035800	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv1055309	chr19:38896244-38945851	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv911663	chr19:38899548-39101879	Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv1065803	chr19:38903099-38945851	Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	nsv1066138	chr19:38904072-38949729	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv833824	chr19:38914618-39084758	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	esv1816081	chr19:38919971-39050479	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
14	nsv911664	chr19:38924814-39048163	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	nsv911665	chr19:38924814-39101879	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38925600-38943200	Weak transcription	Spleen	Spleen
2	chr19:38926000-38933800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr19:38926200-38932600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr19:38926200-38943200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:38926400-38935800	Weak transcription	HSMMtube	muscle
6	chr19:38927600-38934600	Genic enhancers	Fetal Muscle Trunk	muscle
7	chr19:38927600-38934800	Genic enhancers	Fetal Muscle Leg	muscle
8	chr19:38929800-38984400	Weak transcription	Psoas Muscle	Psoas
9	chr19:38930000-38932400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr19:38930200-38978800	Weak transcription	Brain Substantia Nigra	brain
11	chr19:38931200-38932800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr19:38931200-38952400	Weak transcription	Brain Hippocampus Middle	brain
13	chr19:38931400-38932800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:38931600-38932600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr19:38931600-38932800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:38931600-38932800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:38931600-38932800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:38932000-38932800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
19	chr19:38932200-38932600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:38932200-38932600	Enhancers	A549	lung
21	chr19:38932200-38932800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:38932200-38932800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr19:38932200-38932800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr19:38932200-38932800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr19:38932200-38932800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr19:38932200-38932800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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