Variant report

Variant	rs56274731
Chromosome Location	chr2:234437733-234437734
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234406540..234408040-chr2:234435707..234437772,2	K562	blood:
2	chr2:234436536..234438421-chr2:234442924..234444857,2	MCF-7	breast:
3	chr2:234429265..234431745-chr2:234437273..234439268,2	MCF-7	breast:
4	chr2:234436512..234439246-chr2:234448487..234450913,2	MCF-7	breast:
5	chr2:234430061..234434365-chr2:234434465..234441171,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000085982	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs28968505	0.80[AFR][1000 genomes]
rs4047262	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4281901	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4392254	1.00[AMR][1000 genomes]
rs4588184	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55888324	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56306918	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56317380	1.00[AMR][1000 genomes]
rs57285092	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57768657	0.80[AFR][1000 genomes]
rs58330864	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58489211	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58583213	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58864422	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59543173	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59954119	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61376069	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6726032	1.00[AMR][1000 genomes]
rs6734355	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995909	1.00[AMR][1000 genomes]
rs73995911	1.00[AMR][1000 genomes]
rs73995918	1.00[AMR][1000 genomes]
rs73995919	1.00[AMR][1000 genomes]
rs73995920	1.00[AMR][1000 genomes]
rs73995921	1.00[AMR][1000 genomes]
rs73995922	1.00[AMR][1000 genomes]
rs73995923	1.00[AMR][1000 genomes]
rs73995944	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995945	0.84[AFR][1000 genomes]
rs73995946	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995947	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995948	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995949	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995950	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995970	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995972	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995973	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995974	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995980	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996001	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996105	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996107	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996118	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996119	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996120	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996121	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996124	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996138	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997606	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997607	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997608	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997611	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997612	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997630	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997631	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997633	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997637	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997638	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs745154	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7580191	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7584192	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7593807	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS 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	39 gene(s)	inside rSNPs	diseases
2	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr2:234387400-234466000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:234390800-234441000	Weak transcription	Fetal Brain Male	brain
3	chr2:234398000-234452800	Weak transcription	HUVEC	blood vessel
4	chr2:234398400-234442400	Weak transcription	Hela-S3	cervix
5	chr2:234402200-234472400	Weak transcription	Psoas Muscle	Psoas
6	chr2:234402600-234454000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:234404400-234455000	Weak transcription	Fetal Thymus	thymus
8	chr2:234411600-234465600	Weak transcription	Thymus	Thymus
9	chr2:234413000-234474200	Weak transcription	Fetal Heart	heart
10	chr2:234413200-234440600	Weak transcription	Dnd41	blood
11	chr2:234414000-234461800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:234415400-234440600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:234416200-234441200	Weak transcription	Fetal Kidney	kidney
14	chr2:234416200-234441800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:234423200-234473400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:234423600-234439600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:234423800-234441400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:234426200-234474000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:234426400-234453600	Weak transcription	NH-A	brain
20	chr2:234427000-234466200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:234427200-234438200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:234427200-234438200	Strong transcription	Liver	Liver
23	chr2:234427200-234438200	Strong transcription	Placenta	Placenta
24	chr2:234427200-234438400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:234427200-234438400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:234427400-234438200	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:234427400-234440600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:234427400-234463800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:234427600-234440400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:234428600-234440800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr2:234428600-234440800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:234428800-234474400	Weak transcription	Brain Germinal Matrix	brain
33	chr2:234429600-234438400	Strong transcription	Fetal Muscle Leg	muscle
34	chr2:234429800-234437800	Strong transcription	Left Ventricle	heart
35	chr2:234429800-234438400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:234430200-234473800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:234430400-234440600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr2:234430400-234443600	Weak transcription	GM12878-XiMat	blood
39	chr2:234430400-234453800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:234430800-234472800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:234431200-234437800	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr2:234431200-234440600	Weak transcription	Brain Angular Gyrus	brain
43	chr2:234431600-234441200	Weak transcription	Fetal Brain Female	brain
44	chr2:234431600-234452200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr2:234432000-234440400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:234432000-234467600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:234432200-234440600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr2:234432200-234440800	Weak transcription	NHLF	lung
49	chr2:234432200-234441000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr2:234432200-234443200	Weak transcription	NHDF-Ad	bronchial

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