Variant report

Variant	rs2237292
Chromosome Location	chr7:13948517-13948518
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr7:13948214-13948818	HCT-116	colon:	n/a	n/a
2	CEBPB	chr7:13948119-13948927	HCT-116	colon:	n/a	chr7:13948234-13948247
3	FOSL1	chr7:13948208-13949103	HCT-116	colon:	n/a	n/a
4	SP1	chr7:13948228-13949153	HCT-116	colon:	n/a	n/a
5	FOS	chr7:13948342-13948636	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr7:13948348-13948573	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr7:13948306-13948636	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr7:13948377-13948708	SK-N-SH_RA	brain:	n/a	chr7:13948555-13948565 chr7:13948508-13948517
9	STAT3	chr7:13948313-13948653	MCF10A-Er-Src	breast:	n/a	chr7:13948455-13948463
10	STAT3	chr7:13948306-13948670	MCF10A-Er-Src	breast:	n/a	chr7:13948455-13948463
11	CBX3	chr7:13948217-13948986	HCT-116	colon:	n/a	n/a
12	JUND	chr7:13948445-13948998	H1-hESC	embryonic stem cell:	n/a	n/a
13	STAT3	chr7:13948301-13948664	MCF10A-Er-Src	breast:	n/a	chr7:13948455-13948463
14	FOXP2	chr7:13948341-13948655	SK-N-MC	brain:	n/a	n/a
15	STAT3	chr7:13948411-13948680	MCF10A-Er-Src	breast:	n/a	chr7:13948455-13948463
16	FOS	chr7:13948306-13948919	MCF10A-Er-Src	breast:	n/a	n/a
17	MYC	chr7:13948289-13948680	NB4	blood:	n/a	n/a
18	TCF7L2	chr7:13948176-13948953	HEK293	kidney:	n/a	n/a
19	CEBPB	chr7:13948318-13948725	Hela-S3	cervix:	n/a	n/a
20	TCF7L2	chr7:13948222-13949139	HCT-116	colon:	n/a	n/a
21	SP1	chr7:13948205-13949197	HCT-116	colon:	n/a	n/a
22	POLR2A	chr7:13947777-13951009	PFSK-1	brain:	n/a	n/a
23	EP300	chr7:13948291-13948660	SK-N-SH_RA	brain:	n/a	chr7:13948555-13948565 chr7:13948508-13948517
24	CEBPB	chr7:13948360-13948639	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr7:13948114-13948637	PFSK-1	brain:	n/a	n/a
26	JUND	chr7:13948196-13948912	HCT-116	colon:	n/a	n/a
27	CEBPB	chr7:13948068-13949024	HCT-116	colon:	n/a	chr7:13948234-13948247

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:13940952..13942572-chr7:13946206..13948609,2	K562	blood:

Variant related genes	Relation type
ETV1	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10486066	0.83[CHD][hapmap];0.80[JPT][hapmap]
rs10950497	0.83[ASW][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1557946	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17167633	0.93[CHB][hapmap];0.88[CHD][hapmap];0.86[ASN][1000 genomes]
rs17167640	0.81[CHB][hapmap];0.83[JPT][hapmap];0.99[ASN][1000 genomes]
rs2040882	0.86[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2040883	0.93[AMR][1000 genomes]
rs2040884	0.93[AMR][1000 genomes]
rs2040885	0.92[AMR][1000 genomes]
rs2237296	0.88[AMR][1000 genomes]
rs2282878	0.83[ASW][hapmap];0.95[GIH][hapmap];0.87[MEX][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes]
rs2282879	0.91[AMR][1000 genomes]
rs2282881	0.91[AMR][1000 genomes]
rs2299093	0.93[AMR][1000 genomes]
rs2299096	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62454577	0.96[ASN][1000 genomes]
rs66974425	0.91[AMR][1000 genomes]
rs68041021	0.88[AMR][1000 genomes]
rs72589660	0.86[ASN][1000 genomes]
rs7795862	0.97[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	nsv1019873	chr7:13707148-14133367	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1020310	chr7:13839681-14015794	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538738	chr7:13839681-14015794	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv887698	chr7:13841798-14056075	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer 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
5	nsv1020543	chr7:13851470-14021121	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv606277	chr7:13907827-13967377	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv606278	chr7:13931182-13959406	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv949467	chr7:13938464-14279074	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv887700	chr7:13948517-14042702	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13930800-13951800	Weak transcription	Fetal Kidney	kidney
2	chr7:13930800-13971000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:13932000-13952800	Weak transcription	Adipose Nuclei	Adipose
4	chr7:13932200-13949600	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:13932200-13949600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:13933800-13983600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:13934200-13968000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:13934800-13959800	Weak transcription	Pancreas	Pancrea
9	chr7:13935800-13951600	Weak transcription	Aorta	Aorta
10	chr7:13939200-13952200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:13939400-13951200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:13943600-13949600	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:13944400-13958600	Weak transcription	NHLF	lung
14	chr7:13945200-13950800	Weak transcription	Fetal Heart	heart
15	chr7:13945400-13948800	Weak transcription	Fetal Brain Male	brain
16	chr7:13945600-13974400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:13945800-13948800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:13946200-13949000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:13946200-13951600	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:13946200-13958600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:13946200-13959800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:13946200-13969200	Weak transcription	Liver	Liver
23	chr7:13946400-13948600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:13946400-13948600	Weak transcription	Fetal Lung	lung
25	chr7:13947200-13949400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr7:13947400-13951600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr7:13947400-13952800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr7:13947400-13953000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr7:13947600-13949200	Genic enhancers	HUES64 Cell Line	embryonic stem cell
30	chr7:13947800-13948800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:13947800-13949000	Enhancers	NHDF-Ad	bronchial
32	chr7:13947800-13949200	Enhancers	Primary hematopoietic stem cells	blood
33	chr7:13948000-13949000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:13948000-13949000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr7:13948000-13949200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr7:13948000-13949200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:13948000-13949200	Enhancers	HUVEC	blood vessel
38	chr7:13948000-13949400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:13948000-13949600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
40	chr7:13948000-13949600	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr7:13948000-13951200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr7:13948000-13951800	Enhancers	Primary T cells from cord blood	blood
43	chr7:13948000-13951800	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr7:13948000-13951800	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr7:13948000-13952400	Enhancers	Dnd41	blood
46	chr7:13948200-13948600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr7:13948200-13948600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:13948200-13948600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr7:13948200-13948800	Enhancers	HMEC	breast
50	chr7:13948200-13949000	Enhancers	NH-A	brain

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