Variant report

Variant	rs72982309
Chromosome Location	chr2:234400294-234400295
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234395375..234398231-chr2:234399551..234402111,5	MCF-7	breast:
2	chr2:234393753..234400835-chr2:234472864..234476478,8	MCF-7	breast:
3	chr2:234393680..234401613-chr2:234597738..234605139,18	MCF-7	breast:
4	chr2:234400113..234401794-chr2:234403565..234406076,3	MCF-7	breast:
5	chr2:234400105..234405009-chr2:234616033..234619892,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167165	Chromatin interaction
ENSG00000085982	Chromatin interaction
ENSG00000224814	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10929178	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11675858	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11676524	0.86[EUR][1000 genomes]
rs11686188	0.86[EUR][1000 genomes]
rs3796090	0.90[EUR][1000 genomes]
rs3796092	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4047189	0.86[EUR][1000 genomes]
rs6704644	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746234	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72980395	0.89[EUR][1000 genomes]
rs72980402	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72982316	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72982325	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv3214	chr2:234384436-234416949	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234343000-234402200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:234364000-234411200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:234373000-234409800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:234373800-234404400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:234375400-234411200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:234384000-234412400	Weak transcription	Fetal Heart	heart
7	chr2:234384400-234402200	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr2:234384400-234402600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:234384600-234408400	Strong transcription	Duodenum Mucosa	Duodenum
10	chr2:234386600-234400800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:234386800-234407800	Strong transcription	Fetal Intestine Large	intestine
12	chr2:234387400-234402800	Strong transcription	Adipose Nuclei	Adipose
13	chr2:234387400-234466000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:234388200-234402000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:234388400-234401800	Strong transcription	Brain Inferior Temporal Lobe	brain
16	chr2:234390200-234402800	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr2:234390800-234441000	Weak transcription	Fetal Brain Male	brain
18	chr2:234391200-234404400	Strong transcription	Fetal Stomach	stomach
19	chr2:234391400-234402600	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:234391600-234412000	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:234392000-234411600	Weak transcription	Fetal Brain Female	brain
22	chr2:234392200-234402400	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:234392400-234403000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:234392800-234406400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:234393000-234400800	Weak transcription	GM12878-XiMat	blood
26	chr2:234393000-234402400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:234393600-234401000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr2:234393800-234403200	Strong transcription	Primary T cells from cord blood	blood
29	chr2:234394000-234403200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:234394200-234402600	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:234394400-234401000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:234395200-234406000	Weak transcription	Fetal Kidney	kidney
33	chr2:234395400-234404200	Weak transcription	Stomach Mucosa	stomach
34	chr2:234395600-234402200	Strong transcription	Left Ventricle	heart
35	chr2:234395600-234402600	Strong transcription	Right Ventricle	heart
36	chr2:234395600-234404800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr2:234395600-234431800	Weak transcription	Colonic Mucosa	Colon
38	chr2:234395800-234401600	Weak transcription	Aorta	Aorta
39	chr2:234395800-234402000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr2:234395800-234408000	Strong transcription	Fetal Muscle Leg	muscle
41	chr2:234395800-234411400	Strong transcription	Liver	Liver
42	chr2:234396000-234400800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:234396000-234407000	Strong transcription	HepG2	liver
44	chr2:234396200-234400800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr2:234396400-234402000	Strong transcription	Primary B cells from peripheral blood	blood
46	chr2:234396400-234402600	Strong transcription	Rectal Smooth Muscle	rectum
47	chr2:234396400-234407600	Strong transcription	Stomach Smooth Muscle	stomach
48	chr2:234396600-234406000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:234396800-234401200	Genic enhancers	A549	lung
50	chr2:234396800-234409600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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