Variant report

Variant	rs6723222
Chromosome Location	chr2:101022164-101022165
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:101016960..101019506-chr2:101020404..101023355,2	K562	blood:
2	chr2:101016960..101020223-chr2:101021855..101026333,5	K562	blood:
3	chr2:101021035..101023406-chr2:101025685..101028332,2	MCF-7	breast:
4	chr2:101018059..101019912-chr2:101021357..101024313,2	MCF-7	breast:
5	chr2:100939189..100940921-chr2:101020436..101022884,2	K562	blood:

Variant related genes	Relation type
ENSG00000170500	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10164572	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10169580	1.00[EUR][1000 genomes]
rs10178929	1.00[EUR][1000 genomes]
rs10183462	1.00[EUR][1000 genomes]
rs10186689	1.00[EUR][1000 genomes]
rs10187094	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10188619	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10190243	1.00[EUR][1000 genomes]
rs10191099	1.00[EUR][1000 genomes]
rs10193186	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10194087	1.00[EUR][1000 genomes]
rs10194280	1.00[EUR][1000 genomes]
rs10197013	1.00[EUR][1000 genomes]
rs10205784	1.00[EUR][1000 genomes]
rs10207091	1.00[EUR][1000 genomes]
rs10207566	1.00[EUR][1000 genomes]
rs1107428	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11123831	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12329351	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13391540	1.00[EUR][1000 genomes]
rs13407391	1.00[EUR][1000 genomes]
rs13413021	1.00[EUR][1000 genomes]
rs13416287	1.00[EUR][1000 genomes]
rs13425645	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13427376	1.00[EUR][1000 genomes]
rs17024405	1.00[EUR][1000 genomes]
rs28485289	1.00[EUR][1000 genomes]
rs28549897	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28631885	1.00[EUR][1000 genomes]
rs4597550	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56377332	1.00[EUR][1000 genomes]
rs57231149	1.00[EUR][1000 genomes]
rs59036130	1.00[EUR][1000 genomes]
rs60292856	1.00[EUR][1000 genomes]
rs6542927	1.00[EUR][1000 genomes]
rs6542928	1.00[EUR][1000 genomes]
rs6542935	1.00[EUR][1000 genomes]
rs6728399	1.00[AMR][1000 genomes]
rs6733677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6734881	1.00[EUR][1000 genomes]
rs6742048	1.00[EUR][1000 genomes]
rs6755284	1.00[EUR][1000 genomes]
rs6759686	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72954123	1.00[EUR][1000 genomes]
rs73964443	1.00[EUR][1000 genomes]
rs73968406	1.00[EUR][1000 genomes]
rs7558887	1.00[AMR][1000 genomes]
rs7563037	1.00[EUR][1000 genomes]
rs7563227	0.82[AFR][1000 genomes]
rs7563954	1.00[EUR][1000 genomes]
rs7564318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7566095	1.00[EUR][1000 genomes]
rs7569334	1.00[EUR][1000 genomes]
rs7585806	1.00[EUR][1000 genomes]
rs7609272	1.00[EUR][1000 genomes]
rs9808480	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs995110	1.00[EUR][1000 genomes]
rs995132	1.00[EUR][1000 genomes]
rs995133	1.00[EUR][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	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv874701	chr2:100976139-101023261	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100998200-101022600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:101002000-101023400	Weak transcription	Psoas Muscle	Psoas
3	chr2:101005600-101032800	Weak transcription	HUVEC	blood vessel
4	chr2:101005800-101033000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:101006600-101023600	Strong transcription	Brain Germinal Matrix	brain
6	chr2:101006600-101031600	Strong transcription	Fetal Stomach	stomach
7	chr2:101007000-101025000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:101007000-101027200	Strong transcription	Stomach Smooth Muscle	stomach
9	chr2:101007200-101032000	Weak transcription	NHDF-Ad	bronchial
10	chr2:101007600-101023400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:101007600-101024200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:101007600-101030600	Weak transcription	NH-A	brain
13	chr2:101007800-101023800	Strong transcription	Fetal Muscle Trunk	muscle
14	chr2:101007800-101024000	Weak transcription	Liver	Liver
15	chr2:101008000-101033000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr2:101008400-101025200	Weak transcription	Fetal Brain Male	brain
17	chr2:101009200-101023600	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:101009400-101026400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:101010000-101022200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:101010000-101022200	Weak transcription	Fetal Kidney	kidney
21	chr2:101010200-101032800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:101011000-101022200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:101012000-101024000	Weak transcription	Fetal Heart	heart
24	chr2:101013200-101030400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:101013200-101033000	Weak transcription	Fetal Intestine Large	intestine
26	chr2:101014400-101033200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:101014800-101032400	Weak transcription	Hela-S3	cervix
28	chr2:101015600-101033000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:101015800-101024400	Strong transcription	Fetal Brain Female	brain
30	chr2:101015800-101024400	Strong transcription	Fetal Muscle Leg	muscle
31	chr2:101016000-101023800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:101016400-101023400	Strong transcription	Brain Cingulate Gyrus	brain
33	chr2:101016400-101028000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr2:101016400-101032600	Weak transcription	HSMM	muscle
35	chr2:101016800-101023600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:101016800-101024800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:101017000-101022200	Weak transcription	Right Atrium	heart
38	chr2:101017000-101032800	Weak transcription	Osteobl	bone
39	chr2:101017200-101024800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:101017400-101023000	Strong transcription	Brain Angular Gyrus	brain
41	chr2:101017400-101023200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:101017400-101023200	Strong transcription	Lung	lung
43	chr2:101017400-101023400	Strong transcription	Brain Hippocampus Middle	brain
44	chr2:101017400-101023400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:101017400-101023600	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr2:101017400-101024000	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:101017400-101024200	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr2:101017400-101026600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:101017400-101026600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:101017600-101022800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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