Variant report

Variant	rs921694
Chromosome Location	chr12:50308416-50308417
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr12:50308019-50308657	Hela-S3	cervix:	n/a	n/a
2	TCF7L2	chr12:50307942-50308601	Hela-S3	cervix:	n/a	n/a
3	TBP	chr12:50308044-50308684	Hela-S3	cervix:	n/a	n/a
4	GTF2F1	chr12:50308195-50308575	Hela-S3	cervix:	n/a	n/a
5	TCF12	chr12:50307926-50308760	ECC-1	luminal epithelium:	n/a	n/a
6	EP300	chr12:50308205-50308675	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr12:50308077-50308853	K562	blood:	n/a	n/a
8	ZNF263	chr12:50307834-50308513	HEK293-T-REx	kidney:	n/a	n/a
9	RCOR1	chr12:50308332-50308585	K562	blood:	n/a	n/a
10	USF2	chr12:50308070-50308537	Hela-S3	cervix:	n/a	n/a
11	MAX	chr12:50308317-50308481	K562	blood:	n/a	n/a
12	MAZ	chr12:50308267-50308583	K562	blood:	n/a	n/a
13	TBL1XR1	chr12:50308416-50308455	K562	blood:	n/a	n/a
14	NFIC	chr12:50307868-50308795	ECC-1	luminal epithelium:	n/a	n/a
15	BRCA1	chr12:50308219-50308595	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr12:50308306-50308613	Hela-S3	cervix:	n/a	n/a
17	CHD2	chr12:50308134-50308580	Hela-S3	cervix:	n/a	n/a
18	GATA3	chr12:50307968-50308617	T-47D	breast:	n/a	n/a
19	TAL1	chr12:50308291-50308605	K562	blood:	n/a	n/a
20	SMC3	chr12:50308072-50308606	Hela-S3	cervix:	n/a	n/a
21	GATA3	chr12:50308171-50308631	MCF-7	breast:	n/a	n/a
22	TCF7L2	chr12:50308000-50308461	PANC-1	pancreas:	n/a	n/a
23	KAP1	chr12:50308140-50308468	U2OS	brain:	n/a	n/a
24	CEBPB	chr12:50307936-50308857	Hela-S3	cervix:	n/a	n/a
25	ZKSCAN1	chr12:50308293-50308512	Hela-S3	cervix:	n/a	n/a
26	NFIC	chr12:50307857-50308718	ECC-1	luminal epithelium:	n/a	n/a
27	TCF12	chr12:50307990-50308656	ECC-1	luminal epithelium:	n/a	n/a
28	MYC	chr12:50308278-50308579	K562	blood:	n/a	n/a
29	MAZ	chr12:50307991-50308535	Hela-S3	cervix:	n/a	n/a
30	BHLHE40	chr12:50308275-50308475	K562	blood:	n/a	n/a
31	JUND	chr12:50308238-50308435	K562	blood:	n/a	n/a
32	STAT3	chr12:50308240-50308613	Hela-S3	cervix:	n/a	n/a
33	MAX	chr12:50308047-50308550	Hela-S3	cervix:	n/a	n/a
34	ELK1	chr12:50308063-50308457	Hela-S3	cervix:	n/a	n/a
35	RCOR1	chr12:50308219-50308599	K562	blood:	n/a	n/a
36	RAD21	chr12:50308114-50308594	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50303280..50304785-chr12:50307920..50310046,2	K562	blood:
2	chr12:50308354..50310018-chr12:50335915..50338737,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258135	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17124131	0.85[AFR][1000 genomes]
rs17124145	1.00[AMR][1000 genomes]
rs58494052	0.85[AFR][1000 genomes]
rs61416142	0.85[AFR][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	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	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50303400-50311800	Weak transcription	Gastric	stomach
2	chr12:50304200-50319200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:50304600-50314600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:50305800-50308600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:50307400-50308600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr12:50307600-50308600	Enhancers	Fetal Heart	heart
7	chr12:50307600-50308600	Enhancers	Fetal Lung	lung
8	chr12:50307600-50308600	Enhancers	K562	blood
9	chr12:50307800-50308600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:50307800-50308600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr12:50307800-50308600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:50307800-50308600	Enhancers	Fetal Muscle Trunk	muscle
13	chr12:50307800-50308600	Enhancers	Fetal Muscle Leg	muscle
14	chr12:50307800-50308600	Enhancers	Fetal Stomach	stomach
15	chr12:50307800-50308600	Enhancers	Right Atrium	heart
16	chr12:50307800-50308600	Flanking Active TSS	Hela-S3	cervix
17	chr12:50308000-50308600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:50308000-50308600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:50308000-50308600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:50308000-50308600	Enhancers	Esophagus	oesophagus
21	chr12:50308000-50308600	Enhancers	A549	lung
22	chr12:50308200-50308600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:50308400-50308600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:50308400-50310800	Weak transcription	Fetal Brain Female	brain
25	chr12:50308400-50311200	Weak transcription	Brain Germinal Matrix	brain

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