Variant report

Variant	rs59891296
Chromosome Location	chr2:86288193-86288194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86287106..86289491-chr2:86292833..86294887,3	K562	blood:
2	chr2:86287106..86288835-chr2:86292833..86294887,2	K562	blood:
3	chr2:86280557..86282112-chr2:86286059..86288856,2	K562	blood:
4	chr2:86270899..86273641-chr2:86288128..86290154,3	MCF-7	breast:
5	chr2:86271262..86274058-chr2:86286293..86288618,2	K562	blood:

Variant related genes	Relation type
ENSG00000068654	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1036554	0.95[AFR][1000 genomes]
rs11899576	0.98[AFR][1000 genomes]
rs12622009	0.98[AFR][1000 genomes]
rs13384563	0.92[AFR][1000 genomes]
rs13390702	0.98[AFR][1000 genomes]
rs1561328	0.99[AFR][1000 genomes]
rs2164879	0.99[AFR][1000 genomes]
rs35239368	1.00[EUR][1000 genomes]
rs3770087	0.99[AFR][1000 genomes]
rs3770090	0.99[AFR][1000 genomes]
rs6547658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs918857	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs918858	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9789563	0.98[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv870120	chr2:86265437-86343058	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv1007474	chr2:86281967-86505453	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv997563	chr2:86281967-86506132	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv1008924	chr2:86282722-86499402	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv999956	chr2:86285944-86505453	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv1012768	chr2:86285944-86506132	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1003207	chr2:86286314-86496732	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv1000441	chr2:86286314-86508168	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv535808	chr2:86286314-86508168	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv1004442	chr2:86286480-86506132	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86252000-86331200	Strong transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:86264000-86332000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:86265200-86330000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:86265400-86289800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:86265400-86289800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:86265600-86289800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:86265800-86305400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:86266400-86288800	Strong transcription	Duodenum Mucosa	Duodenum
9	chr2:86266400-86295800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:86266800-86289800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:86267200-86290800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:86268800-86291000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:86268800-86295000	Strong transcription	Dnd41	blood
14	chr2:86269800-86289800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:86275200-86289000	Weak transcription	Stomach Mucosa	stomach
16	chr2:86275800-86290000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:86276400-86290000	Weak transcription	Fetal Heart	heart
18	chr2:86276400-86291000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:86276800-86291200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:86280200-86293000	Weak transcription	Psoas Muscle	Psoas
21	chr2:86280800-86291200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:86281200-86288800	Weak transcription	Aorta	Aorta
23	chr2:86281200-86289400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr2:86281200-86290800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:86281400-86288400	Weak transcription	Ovary	ovary
26	chr2:86281400-86290800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:86281400-86290800	Weak transcription	Colonic Mucosa	Colon
28	chr2:86281400-86291400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:86281400-86292400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:86281600-86288400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:86281600-86290800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr2:86281600-86291200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:86282000-86290800	Weak transcription	Brain Angular Gyrus	brain
34	chr2:86282200-86288800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:86282400-86291000	Weak transcription	Brain Germinal Matrix	brain
36	chr2:86282600-86288600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:86282600-86290800	Weak transcription	Right Ventricle	heart
38	chr2:86282600-86291000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr2:86282600-86299200	Weak transcription	Small Intestine	intestine
40	chr2:86282800-86288400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:86282800-86288800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:86282800-86289400	Strong transcription	K562	blood
43	chr2:86282800-86290000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:86282800-86290200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:86282800-86290600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr2:86282800-86291200	Weak transcription	Lung	lung
47	chr2:86282800-86291800	Weak transcription	Esophagus	oesophagus
48	chr2:86282800-86291800	Weak transcription	Gastric	stomach
49	chr2:86282800-86292000	Weak transcription	Spleen	Spleen
50	chr2:86282800-86295800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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