Variant report

Variant	rs67864369
Chromosome Location	chr2:87007425-87007426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:87006827..87008386-chr2:87009565..87012245,2	K562	blood:
2	chr2:87002968..87006528-chr2:87006846..87010010,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10201422	0.82[ASN][1000 genomes]
rs1049457	0.82[ASN][1000 genomes]
rs1049458	0.82[ASN][1000 genomes]
rs11547281	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1193	0.82[ASN][1000 genomes]
rs12714203	0.82[ASN][1000 genomes]
rs12997796	0.83[ASN][1000 genomes]
rs13004867	0.86[ASN][1000 genomes]
rs13029597	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13297	0.82[ASN][1000 genomes]
rs1850138	0.82[ASN][1000 genomes]
rs2367378	0.82[ASN][1000 genomes]
rs2367379	0.82[ASN][1000 genomes]
rs3020728	0.83[ASN][1000 genomes]
rs34353387	0.86[ASN][1000 genomes]
rs34933869	0.86[ASN][1000 genomes]
rs35129240	0.86[ASN][1000 genomes]
rs35594332	0.86[ASN][1000 genomes]
rs35815787	0.86[ASN][1000 genomes]
rs4832312	0.82[ASN][1000 genomes]
rs6706378	0.82[ASN][1000 genomes]
rs6711696	0.82[ASN][1000 genomes]
rs6726451	0.82[ASN][1000 genomes]
rs67535255	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67856656	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7561172	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv10063	chr2:86940988-87084360	Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1002420	chr2:86948835-87172715	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv874472	chr2:86961252-87071474	Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1008817	chr2:86970406-87172715	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv14382	chr2:86972214-87174121	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv997982	chr2:86972834-87105864	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1007746	chr2:86972834-87172715	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv458585	chr2:86974318-87108211	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv582373	chr2:86974318-87108211	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv1007307	chr2:86974563-87055214	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv535809	chr2:86974563-87055214	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv1003748	chr2:86975514-87032318	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
14	nsv535810	chr2:86975514-87032318	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
15	nsv1004572	chr2:86975514-87082883	Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
16	nsv535811	chr2:86975514-87082883	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86984600-87007600	Weak transcription	Psoas Muscle	Psoas
2	chr2:86998400-87009000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:86998800-87008600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:87000400-87008400	Weak transcription	HSMM	muscle
5	chr2:87001400-87014800	Weak transcription	Brain Substantia Nigra	brain
6	chr2:87001600-87008400	Weak transcription	K562	blood
7	chr2:87002000-87010600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:87002000-87012600	Weak transcription	Placenta	Placenta
9	chr2:87002200-87008400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:87002200-87014800	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:87002600-87008800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:87002600-87011000	Weak transcription	Colonic Mucosa	Colon
13	chr2:87002800-87008200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:87002800-87010600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr2:87002800-87015200	Weak transcription	Brain Angular Gyrus	brain
16	chr2:87003200-87010600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:87003200-87011000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:87003800-87007600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:87003800-87009200	Weak transcription	Fetal Intestine Small	intestine
20	chr2:87003800-87010800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:87003800-87015000	Weak transcription	Brain Anterior Caudate	brain
22	chr2:87003800-87016000	Weak transcription	Pancreas	Pancrea
23	chr2:87004000-87008200	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr2:87004000-87008400	Weak transcription	Liver	Liver
25	chr2:87004000-87008400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:87004000-87011000	Weak transcription	Esophagus	oesophagus
27	chr2:87004000-87011000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:87004200-87007800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr2:87004200-87008400	Weak transcription	Adipose Nuclei	Adipose
30	chr2:87004200-87010400	Weak transcription	GM12878-XiMat	blood
31	chr2:87004200-87010600	Weak transcription	Primary T cells from cord blood	blood
32	chr2:87004400-87008200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:87004400-87008400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:87004400-87008400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr2:87004400-87008400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr2:87004400-87008600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:87004400-87010800	Weak transcription	Gastric	stomach
38	chr2:87004400-87010800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:87004400-87015000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:87004600-87008600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:87004600-87010800	Weak transcription	Primary B cells from cord blood	blood
42	chr2:87004600-87011000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:87004600-87014800	Weak transcription	Aorta	Aorta
44	chr2:87004800-87008400	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr2:87004800-87016400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr2:87005400-87010800	Weak transcription	Thymus	Thymus
47	chr2:87006200-87008200	Weak transcription	Fetal Stomach	stomach
48	chr2:87006200-87008400	Weak transcription	Left Ventricle	heart
49	chr2:87006200-87008400	Weak transcription	Lung	lung
50	chr2:87006200-87010800	Weak transcription	Right Atrium	heart

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