Variant report

Variant	rs7527463
Chromosome Location	chr1:175961988-175961989
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10494495	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10753112	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10798422	0.81[AFR][1000 genomes]
rs10798425	0.84[AFR][1000 genomes]
rs10798434	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10913116	0.80[EUR][1000 genomes]
rs10913117	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10913120	0.84[AFR][1000 genomes]
rs12033976	0.81[AFR][1000 genomes]
rs17351562	0.81[AFR][1000 genomes]
rs4409605	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6703511	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7515914	0.80[EUR][1000 genomes];0.80[ASN][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	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872561	chr1:175949646-176092167	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175906400-175962600	Weak transcription	NH-A	brain
2	chr1:175946000-175996000	Weak transcription	HMEC	breast
3	chr1:175953800-175962000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:175953800-175999600	Weak transcription	Colonic Mucosa	Colon
5	chr1:175954000-175962000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:175954000-175962000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:175954000-175963600	Weak transcription	Lung	lung
8	chr1:175954000-175977800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:175954000-175978000	Weak transcription	Left Ventricle	heart
10	chr1:175954000-175987800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:175954200-175962000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:175954600-175964600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:175954800-175962200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:175954800-175963000	Weak transcription	Brain Anterior Caudate	brain
15	chr1:175954800-175968600	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:175955000-175962000	Weak transcription	Fetal Intestine Small	intestine
17	chr1:175955000-175962200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:175955000-175963800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:175956000-175963000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:175956000-175963400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:175956200-175963600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:175957000-175981200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:175957400-175962800	Weak transcription	NHDF-Ad	bronchial
24	chr1:175957600-175977400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:175957600-175977400	Weak transcription	HSMM	muscle
26	chr1:175957800-175962200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:175957800-175971200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:175957800-176022000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:175958000-175962000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr1:175958000-175962600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:175958000-175964000	Weak transcription	Primary T cells from cord blood	blood
32	chr1:175958000-175965000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:175958000-175977200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:175958000-175977200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:175958000-175977400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:175958000-175987800	Weak transcription	Fetal Thymus	thymus
37	chr1:175958200-175978000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:175958400-175962000	Weak transcription	Placenta	Placenta
39	chr1:175958400-175968200	Weak transcription	Fetal Lung	lung
40	chr1:175958600-175962000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:175958600-175962400	Weak transcription	Ovary	ovary
42	chr1:175958600-175963000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:175958600-175964200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr1:175958600-175965200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:175958600-175977400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:175958600-175977400	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr1:175958600-175977400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:175958600-175977400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:175958800-175965400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:175958800-175980600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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