Variant report

Variant	rs487193
Chromosome Location	chr12:50304598-50304599
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr12:50303073-50304853	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr12:50304195-50304829	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50280749..50283185-chr12:50302000..50304856,3	MCF-7	breast:
2	chr12:50303280..50304785-chr12:50307920..50310046,2	K562	blood:
3	chr12:50295593..50300153-chr12:50302401..50306371,6	MCF-7	breast:
4	chr12:50302479..50304923-chr12:50336805..50339549,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAIM2-1	chr12:50302668-50304837	XLOC_010072
2	lnc-FAIM2-1	chr12:50302676-50304837	ENSG00000258135
3	lnc-FAIM2-1	chr12:50304228-50305073	ENSG00000258135
4	lnc-FAIM2-1	chr12:50302666-50304837	NONHSAT028150

No data

Variant related genes	Relation type
ENSG00000257771	TF binding region
ENSG00000135472	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17119741	1.00[EUR][1000 genomes]
rs2232209	1.00[EUR][1000 genomes]
rs297903	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs297904	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs297908	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs297912	1.00[EUR][1000 genomes]
rs297915	1.00[EUR][1000 genomes]
rs364895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs440721	1.00[EUR][1000 genomes]
rs55853170	1.00[EUR][1000 genomes]
rs57423894	1.00[EUR][1000 genomes]
rs7304815	1.00[EUR][1000 genomes]
rs74089213	1.00[EUR][1000 genomes]
rs74091125	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv525920	chr12:50285061-50304949	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv558836	chr12:50290023-50316439	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr12:50298200-50307800	Weak transcription	Right Atrium	heart
2	chr12:50298400-50308000	Weak transcription	Pancreas	Pancrea
3	chr12:50302800-50304800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:50302800-50305200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
5	chr12:50303000-50304600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr12:50303000-50304600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:50303200-50304600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:50303200-50304600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr12:50303200-50304800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:50303200-50304800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:50303200-50304800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:50303200-50306400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr12:50303400-50304600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:50303400-50311800	Weak transcription	Gastric	stomach
15	chr12:50303800-50304600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:50303800-50304800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
17	chr12:50303800-50307600	Weak transcription	Fetal Heart	heart
18	chr12:50304000-50307400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:50304000-50307400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:50304000-50307400	Weak transcription	Brain Germinal Matrix	brain
21	chr12:50304200-50305400	Enhancers	Hela-S3	cervix
22	chr12:50304200-50308000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:50304200-50308000	Weak transcription	Esophagus	oesophagus
24	chr12:50304200-50319200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:50304400-50307600	Weak transcription	K562	blood
26	chr12:50304400-50308000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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