Variant report

Variant	rs6679547
Chromosome Location	chr1:151845812-151845813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151845516..151847312-chr1:151866507..151868026,2	K562	blood:
2	chr1:151843870..151847170-chr1:151852619..151855658,3	K562	blood:
3	chr1:151843139..151845993-chr1:151848350..151850912,2	K562	blood:
4	chr1:151843538..151846125-chr1:151876423..151878232,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs6587642	0.85[AFR][1000 genomes]
rs6678366	0.84[AFR][1000 genomes]
rs6690651	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs72993621	0.85[AFR][1000 genomes]
rs72993637	0.85[AFR][1000 genomes]
rs73005923	0.85[AFR][1000 genomes]
rs73005925	0.85[AFR][1000 genomes]
rs73005928	0.85[AFR][1000 genomes]
rs73005930	0.85[AFR][1000 genomes]
rs73005932	0.85[AFR][1000 genomes]
rs73005933	0.85[AFR][1000 genomes]
rs73007992	1.00[AFR][1000 genomes]
rs73007999	1.00[AFR][1000 genomes]
rs73009645	1.00[AFR][1000 genomes]
rs73009654	1.00[AFR][1000 genomes]
rs73009658	1.00[AFR][1000 genomes]
rs73009663	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547852	chr1:151843044-151955230	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151819200-151847600	Weak transcription	Thymus	Thymus
2	chr1:151826400-151846200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:151831000-151881400	Weak transcription	Ovary	ovary
4	chr1:151832000-151859600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:151832800-151846000	Weak transcription	Spleen	Spleen
6	chr1:151834000-151849600	Weak transcription	Esophagus	oesophagus
7	chr1:151835600-151847600	Weak transcription	HSMMtube	muscle
8	chr1:151837400-151846000	Weak transcription	Left Ventricle	heart
9	chr1:151837800-151846200	Weak transcription	Fetal Thymus	thymus
10	chr1:151840200-151846000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:151840400-151846000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:151840600-151846000	Weak transcription	Adipose Nuclei	Adipose
13	chr1:151840600-151864600	Weak transcription	NH-A	brain
14	chr1:151840800-151846000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:151840800-151847600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:151840800-151857800	Weak transcription	K562	blood
17	chr1:151841000-151846000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr1:151841000-151846200	Weak transcription	Fetal Lung	lung
19	chr1:151841200-151846000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:151841200-151846200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:151841200-151847600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:151841200-151859200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:151841200-151880800	Weak transcription	NHLF	lung
24	chr1:151841400-151846000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:151841400-151860000	Weak transcription	Hela-S3	cervix
26	chr1:151841400-151860200	Weak transcription	Osteobl	bone
27	chr1:151841600-151864000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:151842600-151846000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:151843000-151846000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:151843000-151846000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr1:151843000-151846000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:151843200-151846000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:151843400-151846400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr1:151843400-151859600	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:151843800-151846200	Weak transcription	Primary T cells from cord blood	blood
36	chr1:151844000-151860000	Weak transcription	HSMM	muscle
37	chr1:151844000-151864600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr1:151844200-151846000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr1:151844200-151846000	Weak transcription	HUVEC	blood vessel
40	chr1:151844200-151846200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:151844200-151859600	Weak transcription	Brain Angular Gyrus	brain
42	chr1:151844200-151860400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:151844400-151846000	Weak transcription	Liver	Liver
44	chr1:151844400-151846000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:151844400-151846200	Weak transcription	Brain Anterior Caudate	brain
46	chr1:151844400-151849600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:151844400-151857800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:151844400-151866400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr1:151844400-151881200	Weak transcription	Aorta	Aorta
50	chr1:151844600-151846000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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