Variant report

Variant	rs6717213
Chromosome Location	chr2:152476130-152476131
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:110)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:110 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr2:152475819-152476190	HepG2	liver:	n/a	chr2:152475995-152476008
2	CTCF	chr2:152476020-152476170	HUVEC	blood vessel:	n/a	n/a
3	CTCF	chr2:152476100-152476250	GM12872	blood:	n/a	n/a
4	RAD21	chr2:152475993-152476236	HepG2	liver:	n/a	n/a
5	CTCF	chr2:152476000-152476150	HepG2	liver:	n/a	n/a
6	ESR1	chr2:152475981-152476371	T-47D	breast:	n/a	n/a
7	CTCF	chr2:152476060-152476210	HCPEpiC	choroid plexus:	n/a	n/a
8	ARID3A	chr2:152475908-152476156	HepG2	liver:	n/a	n/a
9	CEBPB	chr2:152475835-152476240	HepG2	liver:	n/a	n/a
10	CTCF	chr2:152476060-152476210	RPTEC	kidney:	n/a	n/a
11	NR2F2	chr2:152475822-152476370	K562	blood:	n/a	n/a
12	JUN	chr2:152475414-152476630	K562	blood:	n/a	chr2:152476425-152476434 chr2:152475995-152476008
13	CTCF	chr2:152476000-152476150	HUVEC	blood vessel:	n/a	n/a
14	ATF3	chr2:152475830-152476205	K562	blood:	n/a	n/a
15	JUND	chr2:152475719-152476373	K562	blood:	n/a	n/a
16	RCOR1	chr2:152475836-152476264	K562	blood:	n/a	n/a
17	REST	chr2:152475820-152476245	PFSK-1	brain:	n/a	n/a
18	CUX1	chr2:152475898-152476312	K562	blood:	n/a	n/a
19	ARID3A	chr2:152475918-152476168	K562	blood:	n/a	n/a
20	MAFK	chr2:152475886-152476207	K562	blood:	n/a	n/a
21	REST	chr2:152475881-152476187	PFSK-1	brain:	n/a	n/a
22	CTCF	chr2:152476104-152476181	Kidney_OC	kidney:	n/a	n/a
23	CTCF	chr2:152475980-152476130	HPF	lung:	n/a	n/a
24	EP300	chr2:152475817-152476200	K562	blood:	n/a	chr2:152475918-152475932
25	CREB1	chr2:152475619-152476310	K562	blood:	n/a	n/a
26	CREB1	chr2:152475898-152476212	A549	lung:	n/a	n/a
27	SMC3	chr2:152475961-152476176	K562	blood:	n/a	n/a
28	CTCF	chr2:152476060-152476210	HMF	breast:	n/a	n/a
29	CTCF	chr2:152476000-152476150	GM12873	blood:	n/a	n/a
30	CTCF	chr2:152475980-152476130	HCPEpiC	choroid plexus:	n/a	n/a
31	MYC	chr2:152475878-152476221	HUVEC	blood vessel:	n/a	n/a
32	RCOR1	chr2:152475907-152476195	HepG2	liver:	n/a	n/a
33	REST	chr2:152475944-152476168	Hela-S3	cervix:	n/a	n/a
34	ZMIZ1	chr2:152475929-152476269	K562	blood:	n/a	n/a
35	JUN	chr2:152475338-152476238	HUVEC	blood vessel:	n/a	chr2:152475995-152476008
36	RCOR1	chr2:152476070-152476221	GM12878	blood:	n/a	n/a
37	CTCF	chr2:152476029-152476169	K562	blood:	n/a	n/a
38	CTCF	chr2:152476040-152476190	K562	blood:	n/a	n/a
39	CTCF	chr2:152475840-152476130	HEK293	kidney:	n/a	n/a
40	CTCF	chr2:152476040-152476190	HRE	kidney:	n/a	n/a
41	CTCF	chr2:152476120-152476270	MCF-7	breast:	n/a	n/a
42	RCOR1	chr2:152475958-152476323	K562	blood:	n/a	n/a
43	CTCF	chr2:152476044-152476150	A549	lung:	n/a	n/a
44	ESR1	chr2:152475930-152476395	T-47D	breast:	n/a	n/a
45	REST	chr2:152475875-152476239	K562	blood:	n/a	n/a
46	TBL1XR1	chr2:152475826-152476248	K562	blood:	n/a	n/a
47	CTCF	chr2:152475988-152476216	MCF-7	breast:	n/a	n/a
48	CTCF	chr2:152476025-152476186	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr2:152475935-152476264	K562	blood:	n/a	n/a
50	FOS	chr2:152475248-152476397	HUVEC	blood vessel:	n/a	chr2:152475327-152475338

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152120609..152121411-chr2:152475693..152476303,2	MCF-7	breast:
2	chr2:152467390..152469082-chr2:152475969..152477688,2	MCF-7	breast:

No data

Variant related genes	Relation type
NEB	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11902616	1.00[CEU][hapmap];0.89[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2288209	0.81[CHD][hapmap]
rs58135483	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73967578	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73967581	1.00[EUR][1000 genomes];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	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv2974	chr2:152401495-152499455	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv469804	chr2:152404429-152570882	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv482520	chr2:152404429-152570882	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1800583	chr2:152433970-152480935	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1795796	chr2:152436051-152477968	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152460600-152489200	Weak transcription	Psoas Muscle	Psoas
2	chr2:152465400-152478200	Strong transcription	Fetal Muscle Leg	muscle
3	chr2:152465400-152491400	Weak transcription	Primary B cells from cord blood	blood
4	chr2:152467800-152491400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:152470400-152477600	Strong transcription	HSMMtube	muscle
6	chr2:152472000-152491800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:152474400-152478200	Strong transcription	Fetal Muscle Trunk	muscle
8	chr2:152474600-152476600	Flanking Active TSS	HUVEC	blood vessel
9	chr2:152475400-152478000	Weak transcription	HSMM	muscle
10	chr2:152475800-152476200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:152475800-152476200	Enhancers	Liver	Liver
12	chr2:152475800-152476200	Active TSS	Brain Hippocampus Middle	brain
13	chr2:152475800-152476200	Flanking Active TSS	Brain Substantia Nigra	brain
14	chr2:152475800-152476200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:152475800-152476200	Enhancers	Fetal Lung	lung
16	chr2:152475800-152476200	Enhancers	Ovary	ovary
17	chr2:152475800-152476200	Enhancers	Right Atrium	heart
18	chr2:152475800-152476200	Flanking Active TSS	A549	lung
19	chr2:152475800-152476400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:152475800-152476400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:152475800-152476400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:152475800-152476600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:152475800-152476600	Enhancers	HepG2	liver
24	chr2:152475800-152477400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
25	chr2:152476000-152476200	Enhancers	Left Ventricle	heart
26	chr2:152476000-152476200	Enhancers	K562	blood
27	chr2:152476000-152476400	Active TSS	Brain Cingulate Gyrus	brain
28	chr2:152476000-152476400	Enhancers	Spleen	Spleen
29	chr2:152476000-152476600	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr2:152476000-152476600	Genic enhancers	Skeletal Muscle Female	skeletal muscle

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