Variant report

Variant	rs648652
Chromosome Location	chr2:32229744-32229745
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32226524..32230246-chr2:32234684..32238192,7	MCF-7	breast:
2	chr2:32229628..32232090-chr2:32233807..32237023,6	MCF-7	breast:
3	chr2:32224283..32226265-chr2:32228385..32230714,2	MCF-7	breast:
4	chr2:32228255..32230087-chr2:32288585..32290325,2	MCF-7	breast:
5	chr2:32217161..32219927-chr2:32227791..32231712,3	K562	blood:
6	chr2:32227894..32231033-chr2:32237038..32239988,3	K562	blood:

Variant related genes	Relation type
ENSG00000021574	Chromatin interaction
ENSG00000271228	Chromatin interaction
ENSG00000162959	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11682335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13403364	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs160793	1.00[AMR][1000 genomes]
rs191961	1.00[AMR][1000 genomes]
rs2116030	1.00[EUR][1000 genomes]
rs223654	1.00[AMR][1000 genomes]
rs223663	1.00[AMR][1000 genomes]
rs486754	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs490226	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs502824	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs533970	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs552555	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs559693	1.00[AMR][1000 genomes]
rs591625	0.81[EUR][1000 genomes]
rs624859	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs631826	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7593078	0.89[EUR][1000 genomes]
rs7600278	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs806149	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32168400-32233400	Weak transcription	Fetal Stomach	stomach
2	chr2:32191600-32234200	Weak transcription	Lung	lung
3	chr2:32202400-32233600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:32206400-32232200	Weak transcription	Fetal Lung	lung
5	chr2:32206400-32233200	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:32206600-32234000	Weak transcription	Stomach Mucosa	stomach
7	chr2:32206800-32230800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:32211000-32232800	Weak transcription	Fetal Intestine Small	intestine
9	chr2:32213200-32232200	Weak transcription	NHDF-Ad	bronchial
10	chr2:32213400-32231200	Weak transcription	NHLF	lung
11	chr2:32216600-32233200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:32216800-32230400	Weak transcription	Fetal Brain Female	brain
13	chr2:32218800-32233200	Weak transcription	Small Intestine	intestine
14	chr2:32222000-32230600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:32222800-32233200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:32223000-32231000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:32223000-32232400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:32223000-32233200	Weak transcription	Fetal Heart	heart
19	chr2:32223000-32233200	Weak transcription	NH-A	brain
20	chr2:32223200-32230600	Weak transcription	A549	lung
21	chr2:32223200-32230800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:32223200-32232200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:32223200-32233000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:32223200-32233400	Weak transcription	HSMM	muscle
25	chr2:32223200-32233600	Weak transcription	Osteobl	bone
26	chr2:32223400-32230200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:32223400-32231400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:32223400-32232400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:32223400-32232600	Weak transcription	HUVEC	blood vessel
30	chr2:32223400-32233000	Weak transcription	Brain Germinal Matrix	brain
31	chr2:32223400-32234400	Weak transcription	Spleen	Spleen
32	chr2:32223600-32230000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr2:32224200-32231400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:32224200-32233600	Weak transcription	Thymus	Thymus
35	chr2:32224400-32230000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr2:32224600-32230600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:32224600-32232200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:32224800-32230200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:32224800-32231000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr2:32224800-32231000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:32224800-32233200	Weak transcription	Fetal Thymus	thymus
42	chr2:32224800-32233200	Weak transcription	Left Ventricle	heart
43	chr2:32225000-32232000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:32225200-32230000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr2:32225200-32230400	Weak transcription	Primary B cells from cord blood	blood
46	chr2:32225200-32230600	Weak transcription	K562	blood
47	chr2:32225200-32231200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr2:32225800-32234200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:32226000-32232600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:32227200-32230200	Weak transcription	Ovary	ovary

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