Variant report

Variant	rs187627535
Chromosome Location	chr12:10704339-10704340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
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	ELF1	chr12:10703801-10704407	GM12878	blood:	n/a	chr12:10704304-10704313
2	NRF1	chr12:10703873-10704577	SK-N-SH	brain:	n/a	chr12:10704336-10704347 chr12:10704333-10704347

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:10704318-10704368	HNPCEpiC	eye:	n/a
2	chr12:10704318-10704368	BJ	skin:	n/a
3	chr12:10704318-10704368	HIPEpiC	eye:	n/a
4	chr12:10704318-10704368	GM12892	blood:	n/a
5	chr12:10704318-10704368	AG10803	skin:	n/a
6	chr12:10704318-10704368	PrEC	prostate:	n/a
7	chr12:10704318-10704368	RPTEC	kidney:	n/a
8	chr12:10704318-10704368	K562	blood:	n/a
9	chr12:10704318-10704368	NH-A	brain:	n/a
10	chr12:10704318-10704368	AG04449	skin:	fetal
11	chr12:10704318-10704368	HAEpiC	amniotic membrane:	n/a
12	chr12:10704318-10704368	H1-hESC	embryonic stem cell:	embryo
13	chr12:10704318-10704368	IMR90	lung:	fetal
14	chr12:10704318-10704368	AG09309	skin:	n/a
15	chr12:10704318-10704368	Caco-2	colon:	n/a
16	chr12:10704318-10704368	HRE	kidney:	n/a
17	chr12:10704318-10704368	HEEpiC	esophagus:	n/a
18	chr12:10704318-10704368	AoSMC	blood vessel:	n/a
19	chr12:10704318-10704368	HepG2	liver:	n/a
20	chr12:10704318-10704368	PANC-1	pancreas:	n/a
21	chr12:10704318-10704368	T-47D	breast:	n/a
22	chr12:10704318-10704368	HCM	heart:	n/a
23	chr12:10704318-10704368	HCPEpiC	choroid plexus:	n/a
24	chr12:10704318-10704368	NT2-D1	testis:	n/a
25	chr12:10704318-10704368	GM12891	blood:	n/a
26	chr12:10704318-10704368	GM06990	blood:	n/a
27	chr12:10704318-10704368	SKMC	muscle:	n/a
28	chr12:10704318-10704368	CMK	blood:	n/a
29	chr12:10704318-10704368	HRPEpiC	eye:	n/a
30	chr12:10704318-10704368	SK-N-SH_RA	brain:	n/a
31	chr12:10704318-10704368	PFSK-1	brain:	n/a
32	chr12:10704318-10704368	HMEC	breast:	n/a
33	chr12:10704318-10704368	LNCaP	prostate:	n/a
34	chr12:10704318-10704368	HCT-116	colon:	n/a
35	chr12:10704318-10704368	AG09319	gingival:	n/a
36	chr12:10704318-10704368	ProgFib	skin:	n/a
37	chr12:10704318-10704368	U87	brain:	n/a
38	chr12:10704318-10704368	ECC-1	luminal epithelium:	n/a
39	chr12:10704318-10704368	MCF10A-Er-Src	breast:	n/a
40	chr12:10704318-10704368	MCF-7	breast:	n/a
41	chr12:10704318-10704368	SK-N-SH	brain:	n/a
42	chr12:10704318-10704368	SK-N-MC	brain:	n/a
43	chr12:10704318-10704368	NHDF-neo	bronchial:	n/a
44	chr12:10704318-10704368	HRCEpiC	kidney:	n/a
45	chr12:10704318-10704368	HL-60	blood:	n/a
46	chr12:10704318-10704368	Jurkat	blood:	n/a
47	chr12:10704318-10704368	NB4	blood:	n/a
48	chr12:10704318-10704368	HPAEpiC	pulmonary alveolar:	n/a
49	chr12:10704318-10704368	NHBE	bronchial:	n/a
50	chr12:10704318-10704368	HEK293	kidney:	embryo

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF2S3L.1-4	chr12:10703809-10704403	NONHSAT026884

No data

Variant related genes	Relation type
ENSG00000256039	TF binding region
SLC25A39P2	TF binding region
SLC25A39P2	CpG island
ENSG00000256039	CpG island

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

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898766	chr12:10537269-10722585	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv557459	chr12:10560591-10729821	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv898772	chr12:10622047-10722585	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv557479	chr12:10644663-10729821	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv898773	chr12:10660850-10722585	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv898774	chr12:10666025-10722585	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv898775	chr12:10668694-10735786	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1039120	chr12:10675930-10755446	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	esv3415666	chr12:10702785-10704833	Enhancers Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv2575322	chr12:10703211-10704784	Enhancers Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10699600-10705200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr12:10704000-10704400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:10704000-10704400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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