Variant report

Variant	rs60279245
Chromosome Location	chr2:74312743-74312744
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:74311799..74313643-chr2:74317613..74320448,2	K562	blood:
2	chr2:74211247..74213387-chr2:74311809..74314574,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235499	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10164943	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10168249	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10168408	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10168410	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10179967	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10186781	0.90[ASN][1000 genomes]
rs10191539	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10192993	0.90[ASN][1000 genomes]
rs10200470	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11126424	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11884748	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11885172	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11886928	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11898903	0.89[EUR][1000 genomes]
rs12328927	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12713803	0.82[EUR][1000 genomes]
rs12713804	0.83[EUR][1000 genomes]
rs12713805	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12713806	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12713808	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12713809	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12713810	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12988533	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12995468	0.89[EUR][1000 genomes]
rs13005103	0.90[EUR][1000 genomes]
rs13006301	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13006407	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13011961	0.90[EUR][1000 genomes]
rs13013211	0.93[EUR][1000 genomes]
rs13014576	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13016198	0.89[EUR][1000 genomes]
rs13021880	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027288	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027623	0.84[EUR][1000 genomes]
rs13030414	0.83[EUR][1000 genomes]
rs13387010	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13387412	0.90[ASN][1000 genomes]
rs13396777	0.90[ASN][1000 genomes]
rs13413697	0.90[ASN][1000 genomes]
rs13426799	0.90[ASN][1000 genomes]
rs28450901	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34136450	0.92[EUR][1000 genomes]
rs34201525	0.92[EUR][1000 genomes]
rs35592918	0.85[EUR][1000 genomes]
rs35609589	0.85[EUR][1000 genomes]
rs3902790	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4073048	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4241260	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4328662	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4331526	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4338985	0.84[ASN][1000 genomes]
rs4364046	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4371381	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4374402	0.85[EUR][1000 genomes]
rs4416242	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4574138	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4578887	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4621184	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4852326	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4853003	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4853005	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4853006	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4853007	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4853009	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6546884	0.84[EUR][1000 genomes]
rs6546885	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6546886	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6546887	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6546889	0.90[ASN][1000 genomes]
rs6706327	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6713313	0.80[EUR][1000 genomes]
rs6714186	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6741544	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6743073	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6745236	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6745576	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6745792	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6754218	0.89[EUR][1000 genomes]
rs6755711	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6756474	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71337722	0.89[EUR][1000 genomes]
rs7560668	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7584777	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587991	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7589915	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7592749	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7593050	0.93[EUR][1000 genomes]
rs7597388	0.90[EUR][1000 genomes]
rs7601526	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7606491	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9309478	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[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	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv818048	chr2:74225434-74313080	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv874284	chr2:74283728-74348797	Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers 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 target site	20 gene(s)	inside rSNPs	diseases
4	nsv874285	chr2:74283728-74355244	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74265400-74315000	Weak transcription	HUVEC	blood vessel
2	chr2:74269800-74328000	Weak transcription	Psoas Muscle	Psoas
3	chr2:74275800-74317000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:74279200-74317000	Weak transcription	Small Intestine	intestine
5	chr2:74282000-74319600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:74287400-74314000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:74298400-74320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:74299800-74332000	Strong transcription	Dnd41	blood
9	chr2:74299800-74333800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:74300000-74314200	Weak transcription	HMEC	breast
11	chr2:74300000-74333200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:74300800-74333600	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr2:74301800-74318000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:74303200-74321000	Weak transcription	Fetal Brain Male	brain
15	chr2:74304600-74314000	Weak transcription	Stomach Mucosa	stomach
16	chr2:74305000-74316600	Weak transcription	Right Atrium	heart
17	chr2:74305800-74313200	Weak transcription	Fetal Heart	heart
18	chr2:74306000-74332400	Strong transcription	Fetal Intestine Small	intestine
19	chr2:74306400-74332000	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr2:74306800-74316800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:74306800-74323000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:74306800-74323000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:74306800-74323600	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:74306800-74323600	Strong transcription	Brain Germinal Matrix	brain
25	chr2:74306800-74323600	Strong transcription	Fetal Intestine Large	intestine
26	chr2:74306800-74330400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:74307000-74324200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:74307000-74332600	Strong transcription	Primary T cells from cord blood	blood
29	chr2:74307200-74331800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:74307200-74332600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:74307200-74333000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:74307400-74314800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:74307400-74322600	Strong transcription	Fetal Brain Female	brain
34	chr2:74307400-74323600	Strong transcription	Primary B cells from peripheral blood	blood
35	chr2:74307400-74325200	Strong transcription	Fetal Thymus	thymus
36	chr2:74307400-74326000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:74307400-74330400	Strong transcription	Thymus	Thymus
38	chr2:74307600-74313200	Strong transcription	Brain Hippocampus Middle	brain
39	chr2:74307600-74313400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:74307600-74318400	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:74307600-74322800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr2:74307600-74323600	Strong transcription	Liver	Liver
43	chr2:74307600-74326000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:74307600-74331000	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:74307600-74332000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr2:74307600-74333400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:74308000-74313400	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:74308000-74315200	Strong transcription	Primary B cells from cord blood	blood
49	chr2:74308000-74316800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:74308000-74323000	Strong transcription	Adipose Nuclei	Adipose

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