Variant report

Variant	rs10208124
Chromosome Location	chr2:48546372-48546373
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	chr2:48545774..48548252-chr2:48556563..48558332,2	K562	blood:
2	chr2:48536399..48538424-chr2:48545720..48548096,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10153773	0.83[ASN][1000 genomes]
rs10174717	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10180295	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10186237	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10193072	0.95[ASN][1000 genomes]
rs10199431	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11676168	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11682044	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11685861	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11690690	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12616792	0.85[ASN][1000 genomes]
rs12713008	0.85[ASN][1000 genomes]
rs12713009	0.85[ASN][1000 genomes]
rs13383364	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13385535	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13386751	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13387171	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13388291	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13426834	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13432998	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2471405	0.83[ASN][1000 genomes]
rs28806843	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28841370	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4290706	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4344965	0.81[AMR][1000 genomes]
rs4411759	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4547573	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4641990	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs56352447	0.95[ASN][1000 genomes]
rs57668696	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58660534	0.88[ASN][1000 genomes]
rs59264464	0.92[ASN][1000 genomes]
rs59412192	0.92[ASN][1000 genomes]
rs59761994	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60677957	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62136987	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62137001	0.88[ASN][1000 genomes]
rs62137002	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62137003	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62137005	0.88[ASN][1000 genomes]
rs62137006	0.88[ASN][1000 genomes]
rs62137007	0.88[ASN][1000 genomes]
rs62137008	0.85[ASN][1000 genomes]
rs62137009	0.85[ASN][1000 genomes]
rs62137015	0.81[AMR][1000 genomes]
rs62138801	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6545027	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6545028	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6545029	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6545030	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6545034	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6545035	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6545036	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6712029	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6743757	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6757206	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72818493	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72820405	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72887649	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7340322	0.85[ASN][1000 genomes]
rs7562069	0.84[AMR][1000 genomes]
rs7562816	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7568960	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7574125	0.81[ASN][1000 genomes]
rs7579932	0.83[AMR][1000 genomes]
rs7600794	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7606104	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9309152	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv874001	chr2:48534363-48624007	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48540600-48547400	Active TSS	GM12878-XiMat	blood
2	chr2:48543200-48553200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:48543400-48546800	Weak transcription	Placenta	Placenta
4	chr2:48543400-48547800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:48543400-48551800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:48543400-48552000	Weak transcription	Stomach Mucosa	stomach
7	chr2:48543400-48553000	Weak transcription	Lung	lung
8	chr2:48543400-48553000	Weak transcription	Psoas Muscle	Psoas
9	chr2:48543400-48568600	Weak transcription	HSMM	muscle
10	chr2:48543600-48546800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr2:48543600-48547600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:48543600-48548000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:48543600-48548000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:48543600-48548200	Enhancers	Primary hematopoietic stem cells	blood
15	chr2:48543600-48548200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr2:48543600-48548400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:48543600-48549200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr2:48543600-48550000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr2:48543600-48550200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:48543600-48551000	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr2:48543600-48552000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:48543600-48552200	Weak transcription	Osteobl	bone
23	chr2:48543600-48553200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr2:48543600-48553400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:48543600-48554400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:48543600-48555400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:48543600-48556600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:48543600-48559400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr2:48543600-48561000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:48543600-48570600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:48543800-48546800	Enhancers	Brain Substantia Nigra	brain
32	chr2:48543800-48550000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:48544000-48546400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr2:48544000-48546600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:48544000-48546800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr2:48544000-48549800	Enhancers	Primary B cells from peripheral blood	blood
37	chr2:48544000-48550000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr2:48544200-48547000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr2:48544200-48549000	Enhancers	Primary B cells from cord blood	blood
40	chr2:48544200-48549400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:48544200-48550000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:48544200-48559600	Weak transcription	Fetal Kidney	kidney
43	chr2:48544400-48546400	Enhancers	A549	lung
44	chr2:48544400-48546400	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr2:48544400-48546800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:48544400-48547400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr2:48544400-48549400	Enhancers	Brain Hippocampus Middle	brain
48	chr2:48544400-48549800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr2:48544400-48551200	Weak transcription	HUVEC	blood vessel
50	chr2:48544400-48552000	Weak transcription	Hela-S3	cervix

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