Variant report

Variant	rs2278085
Chromosome Location	chr2:86281844-86281845
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	chr2:86280557..86282112-chr2:86286059..86288856,2	K562	blood:
2	chr2:86280518..86283436-chr2:86291775..86293685,2	K562	blood:

Variant related genes	Relation type
ENSG00000068654	Chromatin interaction

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

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

rs_ID	r²[population]
rs10165327	0.86[ASN][1000 genomes]
rs10168635	0.86[ASN][1000 genomes]
rs10174095	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10179090	0.86[ASN][1000 genomes]
rs1019591	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1036554	0.95[ASN][1000 genomes]
rs10427394	0.86[ASN][1000 genomes]
rs11899576	0.95[ASN][1000 genomes]
rs12612513	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12614260	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12617717	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12620810	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12621992	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12622009	0.96[ASN][1000 genomes]
rs12624126	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13384563	0.93[ASN][1000 genomes]
rs13390702	0.95[ASN][1000 genomes]
rs1559516	0.84[ASN][1000 genomes]
rs1561328	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17026854	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027011	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17584578	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17618001	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2018608	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2118521	0.86[EUR][1000 genomes]
rs2164879	0.96[ASN][1000 genomes]
rs2241435	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2241437	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2278086	1.00[AMR][1000 genomes]
rs2278087	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2278088	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2288121	0.87[ASN][1000 genomes]
rs2289237	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2303339	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2303340	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs311562	0.87[ASN][1000 genomes]
rs311566	0.87[ASN][1000 genomes]
rs311567	0.87[ASN][1000 genomes]
rs34522092	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3731819	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3770066	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3770081	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3770087	0.96[ASN][1000 genomes]
rs3770089	0.96[ASN][1000 genomes]
rs3770090	0.96[ASN][1000 genomes]
rs3810827	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3815840	0.87[ASN][1000 genomes]
rs4832242	0.87[ASN][1000 genomes]
rs4832250	0.84[ASN][1000 genomes]
rs56104203	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56326127	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56977454	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57083584	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57398459	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58186343	0.92[ASN][1000 genomes]
rs58365138	0.90[ASN][1000 genomes]
rs58898686	0.92[ASN][1000 genomes]
rs59835600	0.88[ASN][1000 genomes]
rs59947468	1.00[AMR][1000 genomes]
rs60479377	1.00[AMR][1000 genomes]
rs60649958	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60719866	1.00[AMR][1000 genomes]
rs6750765	0.95[ASN][1000 genomes]
rs73943946	0.95[ASN][1000 genomes]
rs73947314	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608262	0.94[ASN][1000 genomes]
rs9789563	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973880	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[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	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv870120	chr2:86265437-86343058	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv522891	chr2:86278992-86281905	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86251200-86283000	Strong transcription	HepG2	liver
2	chr2:86251200-86283200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:86251200-86285000	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:86251200-86285200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:86252000-86331200	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:86252200-86282600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:86252200-86285200	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:86252400-86283200	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr2:86264000-86332000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:86264400-86285400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:86264400-86285400	Strong transcription	A549	lung
12	chr2:86265200-86284000	Strong transcription	NHEK	skin
13	chr2:86265200-86330000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:86265400-86282600	Strong transcription	Esophagus	oesophagus
15	chr2:86265400-86285200	Strong transcription	Fetal Intestine Large	intestine
16	chr2:86265400-86289800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:86265400-86289800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:86265600-86282000	Strong transcription	K562	blood
19	chr2:86265600-86282400	Strong transcription	Brain Germinal Matrix	brain
20	chr2:86265600-86289800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:86265800-86284000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:86265800-86305400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:86266000-86282600	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:86266000-86282800	Strong transcription	Gastric	stomach
25	chr2:86266000-86282800	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr2:86266000-86283800	Strong transcription	Fetal Intestine Small	intestine
27	chr2:86266000-86287800	Weak transcription	Right Atrium	heart
28	chr2:86266200-86282200	Strong transcription	GM12878-XiMat	blood
29	chr2:86266200-86282800	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:86266200-86282800	Strong transcription	Fetal Stomach	stomach
31	chr2:86266200-86284600	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:86266400-86288800	Strong transcription	Duodenum Mucosa	Duodenum
33	chr2:86266400-86295800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:86266600-86285000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:86266800-86289800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:86267200-86290800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:86267400-86283200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:86267600-86282000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr2:86268800-86282800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:86268800-86284000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:86268800-86291000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:86268800-86295000	Strong transcription	Dnd41	blood
43	chr2:86269000-86284400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:86269200-86282600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr2:86269600-86282800	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr2:86269600-86283000	Strong transcription	Primary T cells from cord blood	blood
47	chr2:86269600-86283200	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr2:86269800-86282800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:86269800-86283200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr2:86269800-86289800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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