Variant report

Variant	rs6694451
Chromosome Location	chr1:224238569-224238570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223885668..223886563-chr1:224238061..224239140,4	K562	blood:
2	chr1:224238230..224238917-chr1:224645015..224645671,2	K562	blood:
3	chr1:223946751..223947655-chr1:224238232..224238830,2	K562	blood:
4	chr1:224237251..224240101-chr1:224270506..224273233,2	K562	blood:
5	chr1:224237229..224240186-chr1:224247839..224250746,3	K562	blood:

Variant related genes	Relation type
ENSG00000162909	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10799491	1.00[CEU][hapmap]
rs10799543	1.00[CEU][hapmap]
rs10916458	1.00[CEU][hapmap]
rs12083770	1.00[CEU][hapmap]
rs12124547	1.00[CEU][hapmap]
rs12126815	1.00[CEU][hapmap]
rs12133599	1.00[CEU][hapmap]
rs6686449	1.00[CEU][hapmap]
rs72751628	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72751651	0.87[EUR][1000 genomes]
rs7514140	1.00[CEU][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	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv16231	chr1:224204343-224241314	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224232400-224240400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:224236000-224240000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:224236000-224240200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:224237600-224238600	Enhancers	Duodenum Mucosa	Duodenum
5	chr1:224238200-224238600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:224238200-224238600	Enhancers	Small Intestine	intestine
7	chr1:224238200-224239000	Enhancers	HMEC	breast
8	chr1:224238200-224240200	Enhancers	HUVEC	blood vessel
9	chr1:224238400-224238600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
10	chr1:224238400-224238600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:224238400-224238600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:224238400-224238600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr1:224238400-224238600	Enhancers	NH-A	brain
14	chr1:224238400-224238600	Enhancers	NHDF-Ad	bronchial
15	chr1:224238400-224238600	Enhancers	NHEK	skin
16	chr1:224238400-224238800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:224238400-224238800	Enhancers	Primary B cells from peripheral blood	blood
18	chr1:224238400-224238800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr1:224238400-224238800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:224238400-224238800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:224238400-224238800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr1:224238400-224238800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:224238400-224238800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:224238400-224238800	Enhancers	Liver	Liver
25	chr1:224238400-224238800	Enhancers	Brain Substantia Nigra	brain
26	chr1:224238400-224238800	Enhancers	Fetal Muscle Trunk	muscle
27	chr1:224238400-224238800	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr1:224238400-224238800	Enhancers	Placenta	Placenta
29	chr1:224238400-224238800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr1:224238400-224238800	Enhancers	NHLF	lung
31	chr1:224238400-224238800	Flanking Active TSS	Osteobl	bone
32	chr1:224238400-224239000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:224238400-224239000	Enhancers	K562	blood
34	chr1:224238400-224239200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr1:224238400-224241400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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