Variant report

Variant	rs7532785
Chromosome Location	chr1:47801874-47801875
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47801557..47803991-chr1:47820386..47821955,2	K562	blood:
2	chr1:47772551..47781833-chr1:47797933..47806586,42	K562	blood:
3	chr1:47800841..47802489-chr1:47901658..47903187,2	K562	blood:
4	chr1:47696136..47700063-chr1:47798634..47802913,8	K562	blood:
5	chr1:47758513..47761488-chr1:47799880..47802069,3	K562	blood:
6	chr1:47799619..47801887-chr1:47831547..47833405,2	K562	blood:
7	chr1:47765608..47767476-chr1:47799795..47801980,2	K562	blood:

Variant related genes	Relation type
ENSG00000162367	Chromatin interaction
ENSG00000186564	Chromatin interaction
ENSG00000123473	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10489596	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11211503	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11211514	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12081669	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12084661	0.91[ASN][1000 genomes]
rs12090153	1.00[YRI][hapmap]
rs12090346	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17103075	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17103186	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2475761	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2494245	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2622922	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2622923	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2742080	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2758741	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2821095	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3122618	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3125626	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3125634	0.82[ASN][1000 genomes]
rs9436412	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9436883	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3390574	chr1:47778981-47803091	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47799200-47802400	Active TSS	GM12878-XiMat	blood
2	chr1:47800400-47834600	Weak transcription	Spleen	Spleen
3	chr1:47800600-47806000	Weak transcription	Ovary	ovary
4	chr1:47800600-47808800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:47800600-47816000	Weak transcription	Lung	lung
6	chr1:47800600-47834400	Weak transcription	Gastric	stomach
7	chr1:47800600-47854600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:47800800-47802400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:47800800-47802400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr1:47800800-47802400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr1:47800800-47802400	Enhancers	Colonic Mucosa	Colon
12	chr1:47800800-47802400	Enhancers	Pancreas	Pancrea
13	chr1:47800800-47802600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:47800800-47802600	Enhancers	Left Ventricle	heart
15	chr1:47800800-47814200	Weak transcription	Aorta	Aorta
16	chr1:47800800-47819600	Weak transcription	Esophagus	oesophagus
17	chr1:47801000-47802000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:47801000-47802000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:47801000-47802000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:47801000-47802000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:47801000-47802000	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:47801000-47802000	Weak transcription	Fetal Heart	heart
23	chr1:47801000-47802000	Enhancers	Fetal Stomach	stomach
24	chr1:47801000-47802200	Weak transcription	Small Intestine	intestine
25	chr1:47801000-47802200	Enhancers	HUVEC	blood vessel
26	chr1:47801000-47802400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr1:47801000-47802600	Enhancers	Fetal Intestine Large	intestine
28	chr1:47801000-47802600	Enhancers	Fetal Thymus	thymus
29	chr1:47801000-47803400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:47801000-47803600	Enhancers	Fetal Brain Male	brain
31	chr1:47801000-47803800	Weak transcription	A549	lung
32	chr1:47801000-47805000	Weak transcription	Brain Substantia Nigra	brain
33	chr1:47801000-47808200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:47801000-47813800	Weak transcription	Primary T cells from cord blood	blood
35	chr1:47801000-47814600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr1:47801000-47815800	Weak transcription	Osteobl	bone
37	chr1:47801000-47816000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:47801000-47816800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:47801000-47819800	Weak transcription	Brain Angular Gyrus	brain
40	chr1:47801000-47834000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:47801000-47834200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:47801000-47834200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr1:47801000-47834200	Weak transcription	Thymus	Thymus
44	chr1:47801000-47838200	Weak transcription	NHDF-Ad	bronchial
45	chr1:47801000-47850800	Weak transcription	NHEK	skin
46	chr1:47801200-47802000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:47801200-47802000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:47801200-47802200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:47801200-47802200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr1:47801200-47802200	Weak transcription	Rectal Mucosa Donor 29	rectum

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