Variant report

Variant	rs7531277
Chromosome Location	chr1:211747902-211747903
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211747427..211749600-chr1:211810215..211812897,2	K562	blood:
2	chr1:211745327..211748451-chr1:211846943..211849410,3	K562	blood:
3	chr1:211697121..211699374-chr1:211746833..211748555,2	K562	blood:
4	chr1:211746810..211749692-chr1:211783974..211785917,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117650	Chromatin interaction
ENSG00000231057	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11553543	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12091351	0.87[AFR][1000 genomes]
rs12562288	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17017758	0.91[EUR][1000 genomes]
rs17017761	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17838268	0.99[AFR][1000 genomes]
rs2278652	0.85[AFR][1000 genomes]
rs3738198	0.85[AFR][1000 genomes]
rs58859157	0.91[EUR][1000 genomes]
rs61336072	0.97[AFR][1000 genomes]
rs61632665	0.85[AFR][1000 genomes]
rs73075110	0.91[EUR][1000 genomes]
rs73075139	0.91[EUR][1000 genomes]
rs7515127	0.97[AFR][1000 genomes]
rs7519865	0.99[AFR][1000 genomes]
rs7530862	0.99[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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1796467	chr1:211726975-211769893	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1840920	chr1:211726975-211769893	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1836726	chr1:211736470-211752981	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211734400-211748000	Weak transcription	Placenta	Placenta
2	chr1:211738800-211748200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:211742200-211748800	Weak transcription	HSMMtube	muscle
4	chr1:211742400-211748600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:211743200-211748400	Weak transcription	Fetal Lung	lung
6	chr1:211743800-211748000	Weak transcription	NHEK	skin
7	chr1:211743800-211748600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:211743800-211748800	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:211744000-211748000	Weak transcription	Primary B cells from cord blood	blood
10	chr1:211744400-211748600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:211744600-211748400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:211744600-211748400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:211744600-211748600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:211744600-211748600	Weak transcription	Primary T cells from cord blood	blood
15	chr1:211744600-211749200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:211744800-211748600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:211745000-211749000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:211745000-211749600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:211745200-211748600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:211745400-211748400	Strong transcription	NHDF-Ad	bronchial
21	chr1:211745400-211748600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:211745400-211748600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:211745800-211748000	Genic enhancers	HUVEC	blood vessel
24	chr1:211745800-211748200	Strong transcription	HSMM	muscle
25	chr1:211745800-211748600	Genic enhancers	Hela-S3	cervix
26	chr1:211745800-211749800	Weak transcription	Colonic Mucosa	Colon
27	chr1:211745800-211750800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr1:211746000-211748600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:211746000-211748600	Enhancers	HepG2	liver
30	chr1:211746000-211748600	Genic enhancers	Monocytes-CD14+_RO01746	blood
31	chr1:211746000-211749000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr1:211746000-211749400	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:211746200-211748400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:211746200-211749200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:211746400-211748800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:211746400-211749600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:211746600-211748000	Strong transcription	NH-A	brain
38	chr1:211746600-211748600	Weak transcription	Brain Anterior Caudate	brain
39	chr1:211746600-211749200	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:211746600-211749400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr1:211746600-211749600	Transcr. at gene 5' and 3'	Liver	Liver
42	chr1:211746800-211748000	Strong transcription	HMEC	breast
43	chr1:211746800-211748400	Genic enhancers	A549	lung
44	chr1:211746800-211748600	Active TSS	GM12878-XiMat	blood
45	chr1:211746800-211749000	Weak transcription	Brain Angular Gyrus	brain
46	chr1:211746800-211749200	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr1:211747000-211748000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:211747000-211748000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr1:211747000-211748200	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr1:211747000-211748200	Weak transcription	Stomach Mucosa	stomach

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