Variant report

Variant	rs6426127
Chromosome Location	chr1:224633768-224633769
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224629011..224632657-chr1:224632773..224636127,4	K562	blood:
2	chr1:224633064..224636103-chr1:224643208..224646617,3	K562	blood:
3	chr1:224627143..224628933-chr1:224633589..224638837,4	MCF-7	breast:
4	chr1:224620852..224624450-chr1:224632024..224634280,3	MCF-7	breast:
5	chr1:224633115..224636329-chr1:224637747..224639820,3	K562	blood:

Variant related genes	Relation type
ENSG00000162923	Chromatin interaction
ENSG00000143786	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10733025	0.87[AMR][1000 genomes]
rs10799575	0.89[AFR][1000 genomes]
rs1539205	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1573088	0.93[AFR][1000 genomes]
rs2405048	0.87[AMR][1000 genomes]
rs6426119	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6426124	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6426128	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6660212	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6694310	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7544512	0.89[AFR][1000 genomes]
rs9970442	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1013149	chr1:224605943-224646382	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv535312	chr1:224605943-224646382	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224623200-224634800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:224623200-224644400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:224623400-224634600	Weak transcription	Lung	lung
4	chr1:224623400-224634800	Weak transcription	Aorta	Aorta
5	chr1:224623400-224634800	Weak transcription	Left Ventricle	heart
6	chr1:224623400-224634800	Weak transcription	Ovary	ovary
7	chr1:224623400-224634800	Weak transcription	Right Atrium	heart
8	chr1:224623400-224638000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:224623400-224641000	Weak transcription	Fetal Intestine Large	intestine
10	chr1:224623400-224643000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:224623400-224644600	Weak transcription	Right Ventricle	heart
12	chr1:224623600-224635000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:224623600-224635600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:224623600-224636200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:224623600-224637400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:224623600-224642200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:224623600-224644600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:224623600-224644600	Weak transcription	Brain Substantia Nigra	brain
19	chr1:224623800-224634800	Weak transcription	Stomach Mucosa	stomach
20	chr1:224623800-224635000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr1:224623800-224644400	Weak transcription	Brain Anterior Caudate	brain
22	chr1:224624000-224634000	Weak transcription	Liver	Liver
23	chr1:224624000-224634600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:224624000-224634600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:224624000-224634800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:224624000-224634800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:224624000-224634800	Weak transcription	HSMMtube	muscle
28	chr1:224624000-224635000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr1:224624000-224635200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:224624000-224635400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:224624000-224636200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:224624000-224637600	Weak transcription	Fetal Thymus	thymus
33	chr1:224624000-224642200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:224624000-224644000	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:224624000-224644600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:224624000-224644600	Weak transcription	Brain Angular Gyrus	brain
37	chr1:224624000-224645000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:224624000-224645000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr1:224624000-224645000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:224624000-224646800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr1:224624200-224634600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:224624200-224634800	Weak transcription	Osteobl	bone
43	chr1:224624200-224642200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:224624400-224637600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:224624600-224634600	Weak transcription	NHEK	skin
46	chr1:224624600-224634800	Weak transcription	HMEC	breast
47	chr1:224624600-224634800	Weak transcription	NH-A	brain
48	chr1:224624600-224634800	Weak transcription	NHLF	lung
49	chr1:224624800-224634600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:224624800-224634600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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