Variant report

Variant	rs12509351
Chromosome Location	chr4:186877917-186877918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr4:186875886-186878147	H1-neurons	neurons:	n/a	chr4:186877533-186877553
2	POLR2A	chr4:186876170-186878084	H1-neurons	neurons:	n/a	n/a
3	REST	chr4:186877125-186877943	H1-neurons	neurons:	n/a	chr4:186877533-186877553

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:186877916-186877966	LNCaP	prostate:	n/a
2	chr4:186877916-186877966	Jurkat	blood:	n/a
3	chr4:186877916-186877966	SKMC	muscle:	n/a
4	chr4:186877916-186877966	PFSK-1	brain:	n/a
5	chr4:186877916-186877966	HCM	heart:	n/a
6	chr4:186877916-186877966	HAEpiC	amniotic membrane:	n/a
7	chr4:186877916-186877966	K562	blood:	n/a
8	chr4:186877916-186877966	IMR90	lung:	fetal
9	chr4:186877916-186877966	HCF	heart:	n/a
10	chr4:186877916-186877966	AG04449	skin:	fetal
11	chr4:186877916-186877966	RPTEC	kidney:	n/a
12	chr4:186877916-186877966	HPAEpiC	pulmonary alveolar:	n/a
13	chr4:186877916-186877966	HNPCEpiC	eye:	n/a
14	chr4:186877916-186877966	GM12892	blood:	n/a
15	chr4:186877916-186877966	AG10803	skin:	n/a
16	chr4:186877916-186877966	T-47D	breast:	n/a
17	chr4:186877916-186877966	HRCEpiC	kidney:	n/a
18	chr4:186877916-186877966	Hela-S3	cervix:	n/a
19	chr4:186877916-186877966	PrEC	prostate:	n/a
20	chr4:186877916-186877966	NB4	blood:	n/a
21	chr4:186877916-186877966	NHDF-neo	bronchial:	n/a
22	chr4:186877916-186877966	GM19239	blood:	n/a
23	chr4:186877916-186877966	HCT-116	colon:	n/a
24	chr4:186877916-186877966	SAEC	small airway:	n/a
25	chr4:186877916-186877966	HMEC	breast:	n/a
26	chr4:186877916-186877966	ovcar-3	ovarian:	n/a
27	chr4:186877916-186877966	HL-60	blood:	n/a
28	chr4:186877916-186877966	BE2_C	brain:	n/a
29	chr4:186877916-186877966	AG09309	skin:	n/a
30	chr4:186877916-186877966	HCPEpiC	choroid plexus:	n/a
31	chr4:186877916-186877966	HepG2	liver:	n/a
32	chr4:186877916-186877966	AoSMC	blood vessel:	n/a
33	chr4:186877916-186877966	HEEpiC	esophagus:	n/a
34	chr4:186877916-186877966	ProgFib	skin:	n/a
35	chr4:186877916-186877966	MCF10A-Er-Src	breast:	n/a
36	chr4:186877916-186877966	AG09319	gingival:	n/a
37	chr4:186877916-186877966	BJ	skin:	n/a
38	chr4:186877916-186877966	A549	lung:	n/a
39	chr4:186877916-186877966	AG04450	lung:	fetal
40	chr4:186877916-186877966	HEK293	kidney:	embryo
41	chr4:186877916-186877966	HRPEpiC	eye:	n/a
42	chr4:186877916-186877966	HUVEC	blood vessel:	n/a
43	chr4:186877916-186877966	NHBE	bronchial:	n/a
44	chr4:186877916-186877966	SK-N-MC	brain:	n/a
45	chr4:186877916-186877966	SK-N-SH_RA	brain:	n/a
46	chr4:186877916-186877966	SK-N-SH	brain:	n/a
47	chr4:186877916-186877966	NT2-D1	testis:	n/a
48	chr4:186877916-186877966	H1-hESC	embryonic stem cell:	embryo
49	chr4:186877916-186877966	MCF-7	breast:	n/a
50	chr4:186877916-186877966	CMK	blood:	n/a

No data

Variant related genes	Relation type
SORBS2	TF binding region
SORBS2	CpG island

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

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

rs_ID	r²[population]
rs1869621	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs959621	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1015236	chr4:186696172-187004074	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1022661	chr4:186789827-187122464	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv537422	chr4:186789827-187122464	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv1032178	chr4:186836629-186909596	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1033839	chr4:186867069-186926243	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186875800-186879000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:186876000-186878000	Active TSS	Brain Angular Gyrus	brain
3	chr4:186876200-186878000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:186877600-186878000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr4:186877600-186878000	Active TSS	Fetal Brain Female	brain
6	chr4:186877600-186878200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:186877600-186879600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:186877600-186885000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:186877800-186878000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:186877800-186878000	Flanking Active TSS	Fetal Brain Male	brain
11	chr4:186877800-186878200	Enhancers	Brain Germinal Matrix	brain
12	chr4:186877800-186878200	Enhancers	Colon Smooth Muscle	Colon
13	chr4:186877800-186878800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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