Variant report

Variant	rs60433803
Chromosome Location	chr2:86318700-86318701
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86222023..86223749-chr2:86317828..86319791,2	K562	blood:
2	chr2:86316865..86318884-chr2:86331543..86333118,2	MCF-7	breast:
3	chr2:86314506..86319656-chr2:86325341..86328897,6	K562	blood:
4	chr2:86317276..86319434-chr2:86332213..86333803,2	MCF-7	breast:
5	chr2:86318079..86320974-chr2:86322680..86324945,2	K562	blood:
6	chr2:86313697..86322384-chr2:86325397..86334676,16	K562	blood:

Variant related genes	Relation type
ENSG00000132300	Chromatin interaction
ENSG00000068654	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13404334	1.00[EUR][1000 genomes]
rs17027025	1.00[EUR][1000 genomes]
rs1863053	1.00[EUR][1000 genomes]
rs2113613	1.00[EUR][1000 genomes]
rs28687428	1.00[EUR][1000 genomes]
rs35443467	1.00[EUR][1000 genomes]
rs59725174	1.00[EUR][1000 genomes]
rs59774838	1.00[EUR][1000 genomes]
rs60174903	1.00[EUR][1000 genomes]
rs60235051	1.00[EUR][1000 genomes]
rs61216846	1.00[EUR][1000 genomes]
rs6547664	1.00[EUR][1000 genomes]
rs6547667	1.00[EUR][1000 genomes]
rs6713309	1.00[EUR][1000 genomes]
rs72934597	1.00[EUR][1000 genomes]
rs72936310	1.00[EUR][1000 genomes]
rs72936327	1.00[EUR][1000 genomes]
rs72936330	1.00[EUR][1000 genomes]
rs72936358	1.00[EUR][1000 genomes]
rs72940103	1.00[EUR][1000 genomes]
rs73944245	1.00[EUR][1000 genomes]
rs73946347	1.00[EUR][1000 genomes]
rs7563209	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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
13	nsv916616	chr2:86289130-86509326	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' 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
14	nsv458563	chr2:86292341-86507688	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers 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
15	nsv582370	chr2:86292341-86507688	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers 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
16	nsv1009140	chr2:86294939-86506132	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS 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
17	nsv582371	chr2:86296566-86507688	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats 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
18	nsv531381	chr2:86301091-86478346	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
19	nsv1001157	chr2:86301440-86508168	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 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	chr2:86252000-86331200	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	chr2:86286000-86331000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:86286000-86331200	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:86290800-86322600	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr2:86291600-86319000	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:86291800-86318800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:86292800-86331000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:86295200-86323200	Strong transcription	Fetal Stomach	stomach
11	chr2:86296000-86322400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:86300000-86323000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:86300000-86331800	Weak transcription	Stomach Mucosa	stomach
14	chr2:86304600-86322400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr2:86306200-86327600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:86307800-86322000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:86307800-86327600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:86307800-86331000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:86308000-86319800	Strong transcription	Primary T cells from cord blood	blood
20	chr2:86308000-86320800	Weak transcription	Fetal Brain Male	brain
21	chr2:86308000-86328400	Strong transcription	Dnd41	blood
22	chr2:86308000-86330800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:86308200-86322200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr2:86308200-86322400	Strong transcription	Fetal Muscle Leg	muscle
25	chr2:86308200-86325000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:86308400-86324600	Weak transcription	Fetal Heart	heart
27	chr2:86308600-86330000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:86309400-86322600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:86310200-86322400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:86311000-86322400	Strong transcription	Fetal Intestine Small	intestine
31	chr2:86311400-86322400	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:86311400-86322600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr2:86311800-86318800	Strong transcription	Osteobl	bone
34	chr2:86311800-86328800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:86312000-86331400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:86312200-86322400	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr2:86312200-86322800	Strong transcription	Fetal Intestine Large	intestine
38	chr2:86312200-86328200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr2:86312200-86329200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:86312400-86319600	Strong transcription	GM12878-XiMat	blood
41	chr2:86312400-86319800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:86312400-86319800	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr2:86312400-86320600	Strong transcription	HepG2	liver
44	chr2:86312400-86322400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:86312400-86322600	Strong transcription	Fetal Thymus	thymus
46	chr2:86312400-86331400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:86312600-86319600	Strong transcription	Pancreas	Pancrea
48	chr2:86312600-86319600	Strong transcription	Hela-S3	cervix
49	chr2:86312600-86322400	Strong transcription	HSMMtube	muscle
50	chr2:86312800-86319600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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