Variant report

Variant	rs7314734
Chromosome Location	chr12:50340041-50340042
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr12:50339961-50340101	NB4	blood:	n/a	n/a
2	CTCF	chr12:50338963-50340147	SK-N-SH	brain:	n/a	n/a
3	MXI1	chr12:50338639-50340505	SK-N-SH	brain:	n/a	chr12:50338797-50338806
4	JUN	chr12:50339949-50340079	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAFK	chr12:50339943-50340084	Hela-S3	cervix:	n/a	n/a
6	NFIC	chr12:50339288-50340831	ECC-1	luminal epithelium:	n/a	n/a
7	JUND	chr12:50339292-50340130	H1-hESC	embryonic stem cell:	n/a	n/a
8	SMARCC1	chr12:50338599-50340044	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr12:50339900-50340050	AG04450	lung:	n/a	n/a
10	CTCF	chr12:50339960-50340110	AG04449	skin:	n/a	n/a
11	SIN3A	chr12:50339212-50340060	H1-hESC	embryonic stem cell:	n/a	n/a
12	BRCA1	chr12:50339348-50340045	Hela-S3	cervix:	n/a	n/a
13	SMC3	chr12:50338698-50340396	SK-N-SH	brain:	n/a	n/a
14	CTCF	chr12:50338815-50340117	A549	lung:	n/a	n/a
15	SMC3	chr12:50339238-50340086	Hela-S3	cervix:	n/a	n/a
16	HCFC1	chr12:50338920-50340486	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:50221943..50223980-chr12:50339325..50341007,2	K562	blood:
2	chr12:50336938..50340319-chr12:50341822..50344338,4	K562	blood:
3	chr12:50260668..50261552-chr12:50339046..50340247,7	MCF-7	breast:
4	chr12:50334465..50337544-chr12:50338372..50341772,4	K562	blood:
5	chr12:50338558..50341156-chr12:50354977..50356831,3	MCF-7	breast:
6	chr12:50261163..50264047-chr12:50337700..50340324,2	MCF-7	breast:
7	chr12:50338638..50340255-chr12:50342218..50344321,2	K562	blood:
8	chr12:50339489..50341447-chr12:50344526..50348405,3	K562	blood:

No data

Variant related genes	Relation type
AQP2	TF binding region
ENSG00000258057	Chromatin interaction
ENSG00000167566	Chromatin interaction
ENSG00000257588	Chromatin interaction
ENSG00000167580	Chromatin interaction
ENSG00000161798	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3782318	0.84[AMR][1000 genomes]
rs74091130	0.82[AFR][1000 genomes];0.86[AMR][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	nsv899072	chr12:50326176-50379667	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv899073	chr12:50335628-50360461	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS 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	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50338000-50340600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:50338800-50340200	Enhancers	HUVEC	blood vessel
3	chr12:50338800-50340400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr12:50338800-50341800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr12:50338800-50344600	Weak transcription	Spleen	Spleen
6	chr12:50339000-50340800	Enhancers	Fetal Kidney	kidney
7	chr12:50339200-50340200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:50339200-50340200	Enhancers	Lung	lung
9	chr12:50339200-50340600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:50339200-50340800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:50339400-50340200	Enhancers	Placenta	Placenta
12	chr12:50339400-50340400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr12:50339400-50340800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:50339400-50340800	Enhancers	Fetal Intestine Large	intestine
15	chr12:50339400-50341800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr12:50339400-50341800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:50339400-50353600	Weak transcription	Right Atrium	heart
18	chr12:50339600-50340200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:50339600-50340200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:50339600-50340400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr12:50339600-50340400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr12:50339600-50340400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:50339600-50340400	Enhancers	Brain Cingulate Gyrus	brain
24	chr12:50339600-50340400	Enhancers	Brain Germinal Matrix	brain
25	chr12:50339600-50340400	Enhancers	Fetal Brain Female	brain
26	chr12:50339600-50340600	Enhancers	Brain Anterior Caudate	brain
27	chr12:50339600-50341400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:50339600-50344200	Weak transcription	Pancreas	Pancrea
29	chr12:50339800-50340200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr12:50339800-50342200	Enhancers	Hela-S3	cervix
31	chr12:50340000-50340200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:50340000-50340200	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr12:50340000-50340600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr12:50340000-50340600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr12:50340000-50340800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr12:50340000-50340800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr12:50340000-50342000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr12:50340000-50342600	Weak transcription	K562	blood

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