Variant report

Variant	rs71446036
Chromosome Location	chr2:32226986-32226987
allele	A/G
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	chr2:32210903..32213445-chr2:32225242..32227555,2	MCF-7	breast:
3	chr2:32226815..32228929-chr2:32230111..32231633,2	K562	blood:
4	chr2:32216819..32220438-chr2:32225835..32228266,3	MCF-7	breast:
5	chr2:32225290..32227355-chr2:32297423..32299860,2	K562	blood:
6	chr2:32221313..32224221-chr2:32225897..32229048,4	K562	blood:

Variant related genes	Relation type
ENSG00000271228	Chromatin interaction
ENSG00000162959	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11124272	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12478134	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12991444	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17011801	0.85[AMR][1000 genomes]
rs2280968	0.86[AMR][1000 genomes]
rs2366547	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35196278	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61399065	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7556942	0.86[AMR][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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32168400-32233400	Weak transcription	Fetal Stomach	stomach
2	chr2:32171000-32227600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:32191600-32234200	Weak transcription	Lung	lung
4	chr2:32202400-32233600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:32206400-32232200	Weak transcription	Fetal Lung	lung
6	chr2:32206400-32233200	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:32206600-32234000	Weak transcription	Stomach Mucosa	stomach
8	chr2:32206800-32230800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:32211000-32232800	Weak transcription	Fetal Intestine Small	intestine
10	chr2:32213200-32232200	Weak transcription	NHDF-Ad	bronchial
11	chr2:32213400-32227600	Weak transcription	NHEK	skin
12	chr2:32213400-32231200	Weak transcription	NHLF	lung
13	chr2:32216400-32227600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:32216600-32233200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:32216800-32230400	Weak transcription	Fetal Brain Female	brain
16	chr2:32218800-32229600	Weak transcription	Psoas Muscle	Psoas
17	chr2:32218800-32233200	Weak transcription	Small Intestine	intestine
18	chr2:32222000-32230600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:32222800-32227600	Weak transcription	HMEC	breast
20	chr2:32222800-32233200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:32223000-32227600	Weak transcription	Liver	Liver
22	chr2:32223000-32231000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:32223000-32232400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:32223000-32233200	Weak transcription	Fetal Heart	heart
25	chr2:32223000-32233200	Weak transcription	NH-A	brain
26	chr2:32223200-32228600	Weak transcription	HepG2	liver
27	chr2:32223200-32230600	Weak transcription	A549	lung
28	chr2:32223200-32230800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:32223200-32232200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:32223200-32233000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:32223200-32233400	Weak transcription	HSMM	muscle
32	chr2:32223200-32233600	Weak transcription	Osteobl	bone
33	chr2:32223400-32230200	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:32223400-32231400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr2:32223400-32232400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:32223400-32232600	Weak transcription	HUVEC	blood vessel
37	chr2:32223400-32233000	Weak transcription	Brain Germinal Matrix	brain
38	chr2:32223400-32234400	Weak transcription	Spleen	Spleen
39	chr2:32223600-32229400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:32223600-32230000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr2:32223800-32227600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:32224200-32231400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:32224200-32233600	Weak transcription	Thymus	Thymus
44	chr2:32224400-32230000	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr2:32224600-32228800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:32224600-32229400	Weak transcription	Dnd41	blood
47	chr2:32224600-32230600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:32224600-32232200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:32224800-32228800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr2:32224800-32228800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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