Variant report

Variant	rs60609848
Chromosome Location	chr2:101005745-101005746
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:101005691..101009453-chr2:101017314..101020656,3	MCF-7	breast:
2	chr2:101003802..101007409-chr2:101009327..101011119,3	K562	blood:
3	chr2:101004553..101007119-chr2:101009350..101012727,3	K562	blood:

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10167159	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10180570	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184899	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10193535	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198495	0.88[ASN][1000 genomes]
rs10198682	0.88[ASN][1000 genomes]
rs10200480	0.88[ASN][1000 genomes]
rs10201098	0.88[ASN][1000 genomes]
rs10204833	0.88[ASN][1000 genomes]
rs10206374	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10208900	0.88[ASN][1000 genomes]
rs10208911	0.88[ASN][1000 genomes]
rs10209186	0.88[ASN][1000 genomes]
rs1057056	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1057063	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1107429	0.88[ASN][1000 genomes]
rs1124009	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13391930	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13396147	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13400841	0.87[AMR][1000 genomes]
rs13404823	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13407408	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13407648	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13407891	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13410582	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13419808	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13420942	0.88[ASN][1000 genomes]
rs1347721	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1370627	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1437970	0.88[ASN][1000 genomes]
rs17023985	0.88[ASN][1000 genomes]
rs17024035	0.88[ASN][1000 genomes]
rs17024129	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17024136	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17024144	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17024209	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1898571	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1898574	0.88[ASN][1000 genomes]
rs2309793	0.88[ASN][1000 genomes]
rs2309801	0.87[AMR][1000 genomes]
rs3748936	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4149506	0.90[AMR][1000 genomes]
rs4149509	0.90[AMR][1000 genomes]
rs4149514	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4149515	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55640826	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55843950	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56051859	0.88[ASN][1000 genomes]
rs56118658	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56342384	0.88[ASN][1000 genomes]
rs56656536	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56741959	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs57862179	0.93[AMR][1000 genomes]
rs58164864	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs58876304	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59340778	1.00[EUR][1000 genomes]
rs60131548	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60898093	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61321970	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61559573	1.00[EUR][1000 genomes]
rs61710328	0.93[AMR][1000 genomes]
rs6542931	0.88[ASN][1000 genomes]
rs6542932	0.88[ASN][1000 genomes]
rs6542939	0.88[ASN][1000 genomes]
rs6542941	0.88[ASN][1000 genomes]
rs6708942	1.00[ASN][1000 genomes]
rs6713862	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6714109	0.88[ASN][1000 genomes]
rs6716009	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6716367	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724695	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6725672	0.93[AMR][1000 genomes]
rs6732285	0.88[ASN][1000 genomes]
rs6736938	0.90[AMR][1000 genomes]
rs6739576	0.88[ASN][1000 genomes]
rs6739589	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6740098	0.88[ASN][1000 genomes]
rs6749572	0.90[AMR][1000 genomes]
rs6750866	0.88[ASN][1000 genomes]
rs6754379	0.88[ASN][1000 genomes]
rs6754869	0.93[AMR][1000 genomes]
rs6755285	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs6755395	0.88[ASN][1000 genomes]
rs6757774	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6758156	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6758161	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6758515	1.00[ASN][1000 genomes]
rs6758622	0.93[AMR][1000 genomes]
rs6761084	0.87[AMR][1000 genomes]
rs6761561	1.00[ASN][1000 genomes]
rs72960172	0.88[ASN][1000 genomes]
rs72960184	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72960186	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72960202	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73966107	0.88[ASN][1000 genomes]
rs73966108	0.88[ASN][1000 genomes]
rs73968412	0.88[ASN][1000 genomes]
rs73968415	0.82[ASN][1000 genomes]
rs73968817	0.88[ASN][1000 genomes]
rs7556717	0.88[ASN][1000 genomes]
rs7557137	0.88[ASN][1000 genomes]
rs7559939	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7559946	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7561065	0.90[AMR][1000 genomes]
rs7562461	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7562479	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7562486	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7562615	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7564178	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7572119	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7574684	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7575422	0.86[AMR][1000 genomes]
rs7576749	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7582096	0.90[AMR][1000 genomes]
rs7582546	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7585713	0.90[AMR][1000 genomes]
rs7585898	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7587333	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7596483	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7597631	0.88[ASN][1000 genomes]
rs7597722	0.88[ASN][1000 genomes]
rs7606723	0.88[ASN][1000 genomes]
rs9308834	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100993200-101017800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:100996400-101007600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:100997800-101008400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:100998200-101008400	Weak transcription	Dnd41	blood
5	chr2:100998200-101008800	Weak transcription	GM12878-XiMat	blood
6	chr2:100998200-101009000	Weak transcription	A549	lung
7	chr2:100998200-101022600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:100998400-101010000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr2:101000400-101009400	Weak transcription	HepG2	liver
10	chr2:101002000-101006800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:101002000-101008200	Weak transcription	Right Ventricle	heart
12	chr2:101002000-101009000	Weak transcription	Gastric	stomach
13	chr2:101002000-101023400	Weak transcription	Psoas Muscle	Psoas
14	chr2:101002200-101007800	Weak transcription	Brain Anterior Caudate	brain
15	chr2:101002400-101007400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:101002400-101008400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:101002400-101012000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:101003000-101006600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:101003200-101021000	Weak transcription	K562	blood
20	chr2:101003400-101008200	Weak transcription	Lung	lung
21	chr2:101003600-101007600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:101003800-101006600	Weak transcription	Fetal Stomach	stomach
23	chr2:101003800-101007400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:101004000-101007200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:101004200-101006600	Weak transcription	Brain Germinal Matrix	brain
26	chr2:101005000-101005800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:101005000-101006600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:101005000-101008200	Weak transcription	Aorta	Aorta
29	chr2:101005200-101007400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:101005200-101007800	Weak transcription	Fetal Muscle Leg	muscle
31	chr2:101005200-101008000	Weak transcription	Fetal Lung	lung
32	chr2:101005200-101008200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:101005200-101008200	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:101005200-101015000	Strong transcription	Fetal Brain Female	brain
35	chr2:101005400-101006800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr2:101005400-101007000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:101005400-101008200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:101005400-101008200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:101005600-101007200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:101005600-101007600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:101005600-101008200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:101005600-101008200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:101005600-101008600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:101005600-101017600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:101005600-101032800	Weak transcription	HUVEC	blood vessel

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