Variant report

Variant	rs6596751
Chromosome Location	chr5:107143969-107143970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:107139921..107141469-chr5:107142790..107144472,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10066422	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11742684	0.81[ASN][1000 genomes]
rs11747409	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11748620	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2410957	1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2410958	1.00[CEU][hapmap];0.82[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2410959	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2898606	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3843493	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3846692	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3846693	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3909359	0.88[ASN][1000 genomes]
rs3909360	0.88[ASN][1000 genomes]
rs3909362	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3910210	0.83[ASN][1000 genomes]
rs3931059	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3931060	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3931725	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4099186	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4099187	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4099188	0.96[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4099189	1.00[CEU][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4100173	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4957541	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4957721	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4957722	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55976515	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6596749	1.00[CEU][hapmap];0.92[CHB][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6596750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6596755	0.92[ASN][1000 genomes]
rs6860214	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6860370	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6860400	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6860649	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6861427	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6866321	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6867170	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6867698	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6868088	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6870561	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6871212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6871231	1.00[CEU][hapmap];0.92[CHB][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6875432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6876427	0.94[EUR][1000 genomes]
rs6879536	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6879852	0.95[EUR][1000 genomes]
rs6880537	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6882183	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6885982	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6888461	0.95[EUR][1000 genomes]
rs6889417	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6892119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6892137	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6893393	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6895001	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7702274	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7704143	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830440	chr5:107074116-107278905	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1022155	chr5:107138981-107149604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6596751	CAMK4	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107138400-107144800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:107140200-107144200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:107140200-107144400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr5:107140400-107144000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:107140400-107144000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:107140400-107144200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:107140400-107148800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:107140600-107144000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:107140800-107144400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:107140800-107145000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr5:107140800-107146600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:107141200-107144400	Weak transcription	Dnd41	blood
13	chr5:107141400-107144200	Weak transcription	Fetal Intestine Large	intestine
14	chr5:107141400-107146000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:107141400-107146600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:107142200-107144200	Weak transcription	Fetal Stomach	stomach
17	chr5:107142200-107144600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:107142400-107144000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:107142400-107144400	Weak transcription	Brain Germinal Matrix	brain
20	chr5:107142400-107144800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:107142400-107145200	Weak transcription	Hela-S3	cervix
22	chr5:107142600-107144400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:107142600-107145400	Enhancers	Fetal Kidney	kidney
24	chr5:107142800-107144000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:107142800-107144000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:107142800-107144200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:107142800-107145000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr5:107142800-107145000	Weak transcription	NHLF	lung
29	chr5:107143000-107148000	Weak transcription	HSMM	muscle
30	chr5:107143200-107144000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:107143200-107144200	Weak transcription	Right Atrium	heart
32	chr5:107143200-107144200	Weak transcription	NH-A	brain
33	chr5:107143200-107144600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:107143400-107144600	Weak transcription	NHDF-Ad	bronchial
35	chr5:107143600-107144000	Weak transcription	Fetal Muscle Leg	muscle
36	chr5:107143600-107144400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:107143600-107145800	Weak transcription	Fetal Heart	heart
38	chr5:107143600-107148000	Weak transcription	HSMMtube	muscle
39	chr5:107143800-107144400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:107143800-107145800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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