Variant report

Variant	rs72980361
Chromosome Location	chr2:234359375-234359376
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234357505..234359430-chr2:234602337..234604388,2	MCF-7	breast:
2	chr2:234357885..234360671-chr2:234393955..234395750,2	MCF-7	breast:
3	chr2:234357658..234360983-chr2:234599782..234603181,4	MCF-7	breast:
4	chr2:234356800..234359439-chr2:234362085..234364639,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167165	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11675254	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11681704	0.90[EUR][1000 genomes]
rs11694406	0.81[EUR][1000 genomes]
rs2228939	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3754595	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3768799	0.91[EUR][1000 genomes]
rs3768801	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3768802	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3820744	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56266844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56277462	0.88[EUR][1000 genomes]
rs56336977	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6750618	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6753242	0.90[EUR][1000 genomes]
rs72980338	0.88[EUR][1000 genomes]
rs72980376	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72980392	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7587876	0.90[EUR][1000 genomes]
rs7597465	0.90[EUR][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	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1000870	chr2:234333083-234410768	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:234338400-234362800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:234338800-234360800	Weak transcription	HMEC	breast
4	chr2:234339200-234360000	Weak transcription	K562	blood
5	chr2:234339600-234394200	Weak transcription	HUVEC	blood vessel
6	chr2:234339800-234391400	Weak transcription	NHDF-Ad	bronchial
7	chr2:234343000-234393000	Strong transcription	Primary T cells from cord blood	blood
8	chr2:234343000-234402200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:234343200-234383000	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:234343400-234368800	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:234343600-234359400	Strong transcription	Lung	lung
12	chr2:234344000-234366200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:234344000-234382000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:234344200-234382000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr2:234344200-234382200	Strong transcription	Primary B cells from cord blood	blood
16	chr2:234344200-234382600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr2:234344400-234381600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:234346600-234375000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:234347000-234359600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:234348000-234370800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:234348400-234360800	Weak transcription	Osteobl	bone
22	chr2:234348400-234362800	Weak transcription	Right Atrium	heart
23	chr2:234348400-234363400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:234350200-234360000	Genic enhancers	A549	lung
25	chr2:234350200-234377600	Strong transcription	Left Ventricle	heart
26	chr2:234350400-234374400	Strong transcription	Fetal Intestine Large	intestine
27	chr2:234351600-234361600	Strong transcription	HSMMtube	muscle
28	chr2:234352000-234367400	Strong transcription	Primary hematopoietic stem cells	blood
29	chr2:234352400-234362800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:234352400-234368800	Strong transcription	Colonic Mucosa	Colon
31	chr2:234352400-234380800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:234352400-234382000	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr2:234352600-234368800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr2:234352600-234369000	Strong transcription	Brain Anterior Caudate	brain
35	chr2:234352600-234373600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
36	chr2:234352600-234380800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:234352600-234380800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:234352600-234381400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:234352600-234381600	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:234352600-234381800	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr2:234352600-234382600	Strong transcription	Primary B cells from peripheral blood	blood
42	chr2:234352600-234382600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr2:234352800-234382000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:234353000-234364600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:234353000-234369000	Strong transcription	Brain Hippocampus Middle	brain
46	chr2:234353000-234378000	Strong transcription	Rectal Smooth Muscle	rectum
47	chr2:234353200-234369800	Strong transcription	Right Ventricle	heart
48	chr2:234353400-234368600	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr2:234353400-234373600	Strong transcription	Aorta	Aorta
50	chr2:234353400-234379600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

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