Variant report

Variant	rs61833930
Chromosome Location	chr1:227684476-227684477
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr1:227684393-227684673	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:227684434-227684484	AG09319	gingival:	n/a
2	chr1:227684434-227684484	AG09309	skin:	n/a
3	chr1:227684434-227684484	Hepatocyte	liver:	n/a
4	chr1:227684434-227684484	AG10803	skin:	n/a
5	chr1:227684434-227684484	HEEpiC	esophagus:	n/a
6	chr1:227684434-227684484	HUVEC	blood vessel:	n/a
7	chr1:227684434-227684484	Caco-2	colon:	n/a
8	chr1:227684434-227684484	SAEC	small airway:	n/a
9	chr1:227684434-227684484	NT2-D1	testis:	n/a
10	chr1:227684434-227684484	HL-60	blood:	n/a
11	chr1:227684434-227684484	ECC-1	luminal epithelium:	n/a
12	chr1:227684434-227684484	HRPEpiC	eye:	n/a
13	chr1:227684434-227684484	HRE	kidney:	n/a
14	chr1:227684434-227684484	SK-N-SH	brain:	n/a
15	chr1:227684434-227684484	HAEpiC	amniotic membrane:	n/a
16	chr1:227684434-227684484	SK-N-SH_RA	brain:	n/a
17	chr1:227684434-227684484	PFSK-1	brain:	n/a
18	chr1:227684434-227684484	GM06990	blood:	n/a
19	chr1:227684434-227684484	HPAEpiC	pulmonary alveolar:	n/a
20	chr1:227684434-227684484	HCM	heart:	n/a
21	chr1:227684434-227684484	HIPEpiC	eye:	n/a
22	chr1:227684434-227684484	MCF-7	breast:	n/a
23	chr1:227684434-227684484	PANC-1	pancreas:	n/a
24	chr1:227684434-227684484	Hela-S3	cervix:	n/a
25	chr1:227684434-227684484	H1-hESC	embryonic stem cell:	embryo
26	chr1:227684434-227684484	NB4	blood:	n/a
27	chr1:227684434-227684484	AoSMC	blood vessel:	n/a
28	chr1:227684434-227684484	RPTEC	kidney:	n/a
29	chr1:227684434-227684484	NH-A	brain:	n/a
30	chr1:227684434-227684484	GM12892	blood:	n/a
31	chr1:227684434-227684484	NHBE	bronchial:	n/a
32	chr1:227684434-227684484	HepG2	liver:	n/a
33	chr1:227684434-227684484	MCF10A-Er-Src	breast:	n/a
34	chr1:227684434-227684484	T-47D	breast:	n/a
35	chr1:227684434-227684484	GM12891	blood:	n/a
36	chr1:227684434-227684484	HCPEpiC	choroid plexus:	n/a
37	chr1:227684434-227684484	GM19239	blood:	n/a
38	chr1:227684434-227684484	U87	brain:	n/a
39	chr1:227684434-227684484	CMK	blood:	n/a
40	chr1:227684434-227684484	HCT-116	colon:	n/a
41	chr1:227684434-227684484	BE2_C	brain:	n/a
42	chr1:227684434-227684484	HRCEpiC	kidney:	n/a
43	chr1:227684434-227684484	HNPCEpiC	eye:	n/a
44	chr1:227684434-227684484	AG04449	skin:	fetal
45	chr1:227684434-227684484	BJ	skin:	n/a
46	chr1:227684434-227684484	LNCaP	prostate:	n/a
47	chr1:227684434-227684484	SKMC	muscle:	n/a
48	chr1:227684434-227684484	GM12878	blood:	n/a
49	chr1:227684434-227684484	AG04450	lung:	fetal
50	chr1:227684434-227684484	HMEC	breast:	n/a

No data

Variant related genes	Relation type
TUBB8P10	TF binding region
TUBB8P10	CpG island

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

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	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv2753828	chr1:227670265-227791265	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv945337	chr1:227680551-227712483	ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv947071	chr1:227682344-227694692	Inactive region	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv873244	chr1:227682414-227736363	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv873245	chr1:227683859-227697381	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3349615	chr1:227684129-227688027	Inactive region	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61833930	ZNF678	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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