Variant report

Variant	rs6674970
Chromosome Location	chr1:151116279-151116280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151112727..151117017-chr1:151118116..151120270,3	K562	blood:
2	chr1:151096194..151098701-chr1:151116242..151118774,2	MCF-7	breast:
3	chr1:151029687..151031858-chr1:151114009..151116505,2	K562	blood:
4	chr1:151114895..151122057-chr1:151125026..151130825,9	MCF-7	breast:
5	chr1:151008899..151010447-chr1:151116259..151119248,2	MCF-7	breast:
6	chr1:151115125..151117967-chr1:151253558..151255357,2	K562	blood:
7	chr1:151114839..151116907-chr1:151121689..151124445,2	K562	blood:
8	chr1:151109028..151112291-chr1:151113939..151118222,5	K562	blood:
9	chr1:151112451..151114594-chr1:151115769..151118069,3	K562	blood:
10	chr1:151114749..151117567-chr1:151151983..151153922,2	K562	blood:
11	chr1:151040013..151045011-chr1:151111761..151118476,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143373	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000213190	Chromatin interaction
ENSG00000163156	Chromatin interaction
ENSG00000143434	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000163141	Chromatin interaction
ENSG00000163154	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10788798	0.86[JPT][hapmap]
rs10788800	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10888405	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11204777	0.86[JPT][hapmap]
rs11204780	0.86[JPT][hapmap]
rs11204782	0.85[JPT][hapmap]
rs11807526	0.86[JPT][hapmap]
rs12087892	0.86[JPT][hapmap]
rs12569193	1.00[ASW][hapmap];0.92[CEU][hapmap];0.92[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.86[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1524773	0.85[JPT][hapmap]
rs2067606	0.86[JPT][hapmap]
rs2091219	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs2140709	0.86[JPT][hapmap]
rs3738481	0.85[JPT][hapmap]
rs4357530	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.82[MEX][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4360524	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4512652	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4970941	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.88[TSI][hapmap];0.95[YRI][hapmap]
rs4970993	0.86[JPT][hapmap]
rs4970998	0.86[JPT][hapmap]
rs4971005	0.86[JPT][hapmap]
rs4971007	0.86[JPT][hapmap]
rs4971008	0.86[JPT][hapmap]
rs61819219	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6656450	0.91[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6676190	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.82[YRI][hapmap];0.83[EUR][1000 genomes]
rs7523731	0.86[JPT][hapmap]
rs7546304	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7554936	0.88[CEU][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
5	nsv831559	chr1:151109459-151239921	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs6674970	CDC42SE1	cis	Lymphoblastoid	GTEx
rs6674970	LYSMD1	cis	parietal	SCAN
rs6674970	CDC42SE1	cis	parietal	SCAN
rs6674970	GABPB2	cis	cerebellum	SCAN
rs6674970	C11orf54	trans	brain	seeQTL
rs6674970	ZNF687	cis	cerebellum	SCAN
rs6674970	CDC42SE1	cis	multi-tissue	Pritchard
rs6674970	PEX11B	cis	parietal	SCAN
rs6674970	CDC42SE1	cis	brain	seeQTL
rs6674970	CDC42SE1	cis	lymphoblastoid	seeQTL

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151104400-151116600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:151104400-151117000	Weak transcription	Fetal Kidney	kidney
3	chr1:151104400-151118000	Weak transcription	Aorta	Aorta
4	chr1:151104600-151117400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:151104600-151118200	Weak transcription	Primary T cells from cord blood	blood
6	chr1:151105200-151117000	Weak transcription	Placenta	Placenta
7	chr1:151105400-151117000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:151105600-151118000	Weak transcription	Gastric	stomach
9	chr1:151105800-151117200	Weak transcription	Spleen	Spleen
10	chr1:151107000-151116600	Weak transcription	HUVEC	blood vessel
11	chr1:151107000-151117600	Weak transcription	Colonic Mucosa	Colon
12	chr1:151108400-151117200	Weak transcription	Brain Substantia Nigra	brain
13	chr1:151108600-151117800	Weak transcription	Esophagus	oesophagus
14	chr1:151109600-151117600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:151110200-151117600	Weak transcription	Pancreas	Pancrea
16	chr1:151112800-151116600	Weak transcription	Brain Anterior Caudate	brain
17	chr1:151112800-151116600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:151112800-151117400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:151113000-151116400	Weak transcription	Ovary	ovary
20	chr1:151113000-151118000	Weak transcription	Liver	Liver
21	chr1:151114800-151116400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:151114800-151116400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:151114800-151116800	Enhancers	Fetal Brain Male	brain
24	chr1:151114800-151116800	Enhancers	Right Atrium	heart
25	chr1:151114800-151117000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr1:151114800-151117200	Enhancers	Left Ventricle	heart
27	chr1:151114800-151117200	Enhancers	Right Ventricle	heart
28	chr1:151114800-151117400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr1:151114800-151117400	Enhancers	Psoas Muscle	Psoas
30	chr1:151114800-151117600	Enhancers	HSMM	muscle
31	chr1:151114800-151117800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:151115000-151118200	Enhancers	K562	blood
33	chr1:151115000-151118600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr1:151115200-151116600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:151115200-151117200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:151115200-151117200	Weak transcription	Fetal Intestine Large	intestine
37	chr1:151115400-151116800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr1:151115400-151117400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:151115400-151117400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:151115400-151117400	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr1:151115400-151117400	Genic enhancers	Fetal Stomach	stomach
42	chr1:151115400-151117600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:151115600-151116400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:151115600-151116400	Flanking Active TSS	Fetal Heart	heart
45	chr1:151115600-151116800	Enhancers	H9 Cell Line	embryonic stem cell
46	chr1:151115600-151116800	Weak transcription	Primary B cells from cord blood	blood
47	chr1:151115600-151117000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr1:151115600-151117200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr1:151115600-151117200	Enhancers	Adipose Nuclei	Adipose
50	chr1:151115600-151117200	Enhancers	Fetal Thymus	thymus

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