Variant report

Variant	rs6428356
Chromosome Location	chr1:196623960-196623961
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:196577316..196579405-chr1:196622381..196624007,2	K562	blood:
2	chr1:196621426..196625290-chr1:196639780..196642382,3	K562	blood:
3	chr1:196460578..196463457-chr1:196623821..196625858,2	K562	blood:
4	chr1:196478927..196481406-chr1:196622982..196624630,2	K562	blood:
5	chr1:196581960..196583558-chr1:196622079..196624943,2	K562	blood:

Variant related genes	Relation type
ENSG00000162687	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16840379	0.86[AFR][1000 genomes]
rs34941217	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35836460	0.86[AFR][1000 genomes]
rs6673106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7524776	0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs7551203	0.82[YRI][hapmap];0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2757766	chr1:196590837-196961802	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv428290	chr1:196590837-196961802	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv428565	chr1:196604434-196772489	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv872958	chr1:196615838-196645117	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv872959	chr1:196619720-196660261	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	nsv872960	chr1:196621221-196641257	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196619800-196625000	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr1:196620400-196626000	Active TSS	Liver	Liver
3	chr1:196620600-196624600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:196620800-196625000	Active TSS	Adipose Nuclei	Adipose
5	chr1:196621000-196625000	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr1:196621400-196624400	Weak transcription	Fetal Stomach	stomach
7	chr1:196621400-196630000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:196621800-196624000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:196622600-196625000	Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr1:196622800-196624000	Active TSS	Brain Hippocampus Middle	brain
11	chr1:196622800-196624000	Flanking Active TSS	Dnd41	blood
12	chr1:196622800-196624600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr1:196622800-196626200	Active TSS	Right Atrium	heart
14	chr1:196622800-196626400	Active TSS	Ovary	ovary
15	chr1:196623000-196624600	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr1:196623000-196624600	Active TSS	Psoas Muscle	Psoas
17	chr1:196623200-196624800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:196623400-196624000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:196623400-196624800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:196623600-196624000	Flanking Active TSS	Osteobl	bone
21	chr1:196623600-196624400	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:196623600-196624800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr1:196623600-196625000	Enhancers	Rectal Smooth Muscle	rectum
24	chr1:196623600-196642200	Weak transcription	HSMM	muscle
25	chr1:196623800-196624000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr1:196623800-196624000	Active TSS	Brain Anterior Caudate	brain
27	chr1:196623800-196624000	Enhancers	NH-A	brain
28	chr1:196623800-196624000	Flanking Active TSS	NHDF-Ad	bronchial
29	chr1:196623800-196624200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:196623800-196624400	Weak transcription	NHLF	lung
31	chr1:196623800-196624800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:196623800-196625000	Active TSS	Hela-S3	cervix
33	chr1:196623800-196632800	Weak transcription	K562	blood

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