Variant report

Variant	rs59951261
Chromosome Location	chr2:53971011-53971012
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:53969486..53972381-chr2:53972663..53975031,2	K562	blood:
2	chr2:53970587..53973374-chr2:53992817..53996339,3	K562	blood:

Variant related genes	Relation type
ENSG00000143942	Chromatin interaction
ENSG00000115239	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10204047	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10204432	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10490472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10490473	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13387421	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13404007	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13426962	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17039534	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17045069	0.83[AMR][1000 genomes]
rs17045109	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17045123	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17045139	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17045239	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17045241	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17045262	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17045286	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17045296	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2056650	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2287339	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2287342	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2287346	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2287347	0.87[ASN][1000 genomes]
rs2302876	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2302880	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28834518	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3213768	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3213774	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3755113	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3755114	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3755115	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3755116	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3755119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770390	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3770391	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3770396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3815650	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3821079	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60972886	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6545368	0.87[ASN][1000 genomes]
rs6724214	0.89[ASN][1000 genomes]
rs6761242	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72799242	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72901302	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72902916	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72902923	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72902926	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72902929	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7605552	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs997643	0.83[AMR][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	nsv1003263	chr2:53863287-54055359	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv535720	chr2:53863287-54055359	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv834058	chr2:53900674-54072011	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv1844655	chr2:53929855-53972693	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53908600-53982200	Weak transcription	Small Intestine	intestine
2	chr2:53910000-53994000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:53910200-53990600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:53918400-53994000	Weak transcription	Fetal Heart	heart
5	chr2:53925400-53979400	Weak transcription	Psoas Muscle	Psoas
6	chr2:53936600-53978600	Weak transcription	Hela-S3	cervix
7	chr2:53936800-53985400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:53937000-53983800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:53937000-53994400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:53937200-53978600	Weak transcription	NH-A	brain
11	chr2:53937200-53983600	Weak transcription	Right Ventricle	heart
12	chr2:53937200-53994200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:53937400-53979600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:53937400-53990200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr2:53937400-53994400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:53938000-53974800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:53938000-53974800	Weak transcription	Placenta	Placenta
18	chr2:53938200-53975200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:53938400-53975000	Weak transcription	Fetal Kidney	kidney
20	chr2:53938400-53982800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:53938400-53983400	Weak transcription	HSMMtube	muscle
22	chr2:53938400-53992400	Weak transcription	K562	blood
23	chr2:53938600-53972000	Weak transcription	HSMM	muscle
24	chr2:53941800-53974400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:53941800-53976400	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:53943800-53974800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:53943800-53983600	Weak transcription	Ovary	ovary
28	chr2:53943800-53983600	Weak transcription	Thymus	Thymus
29	chr2:53943800-53983800	Weak transcription	Left Ventricle	heart
30	chr2:53944000-53974600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:53949800-53974200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:53952200-53978600	Weak transcription	Osteobl	bone
33	chr2:53952400-53983600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:53952600-53974800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:53954400-53972000	Weak transcription	NHDF-Ad	bronchial
36	chr2:53954800-53982000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:53954800-53983800	Weak transcription	Lung	lung
38	chr2:53955800-53974600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:53956000-53979600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:53956000-53983400	Weak transcription	Fetal Brain Male	brain
41	chr2:53956200-53983000	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:53956800-53974600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:53957000-53983800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:53957200-53974600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:53957800-53983400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr2:53958000-53977800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:53958200-53972600	Weak transcription	Fetal Brain Female	brain
48	chr2:53958200-53994400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:53960400-53983400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:53961600-53974000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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