Variant report

Variant	rs3112231
Chromosome Location	chr2:95771096-95771097
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:95769301..95771793-chr2:95772183..95776425,4	K562	blood:

Variant related genes	Relation type
ENSG00000144029	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10195614	0.86[AMR][1000 genomes]
rs1104775	0.83[AMR][1000 genomes]
rs17119148	0.89[EUR][1000 genomes]
rs1875402	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1966272	0.88[EUR][1000 genomes]
rs2001254	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2010533	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2098768	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2291991	0.87[EUR][1000 genomes]
rs2320339	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2320619	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2320620	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2320621	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2320624	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3105100	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3105101	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3105102	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3105104	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3105105	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3112221	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3112222	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3112223	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3112225	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3112228	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3112229	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3112230	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3112982	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3112983	0.87[EUR][1000 genomes]
rs3112984	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3112985	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3112986	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3112987	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3112988	0.80[ASN][1000 genomes]
rs3112990	0.84[ASN][1000 genomes]
rs3112995	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3112996	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3112997	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3112999	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3113000	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3113001	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4854243	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4854244	0.89[EUR][1000 genomes]
rs4854247	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4854249	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6719098	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6723333	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6725821	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7585473	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs872580	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005016	chr2:95327875-95914467	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1003666	chr2:95618109-95772924	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv482276	chr2:95711972-95888406	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1008945	chr2:95745367-96062107	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95745400-95781800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:95757000-95772200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:95759000-95771800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:95759400-95783800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:95762800-95781600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:95763000-95781400	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr2:95763600-95780800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:95763600-95780800	Strong transcription	Fetal Thymus	thymus
9	chr2:95763600-95781000	Strong transcription	Fetal Intestine Large	intestine
10	chr2:95763600-95781600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:95763800-95777200	Strong transcription	Primary B cells from cord blood	blood
12	chr2:95763800-95781000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:95764000-95771200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:95764000-95776600	Strong transcription	Fetal Muscle Trunk	muscle
15	chr2:95764000-95780400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:95764000-95780800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:95764000-95780800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:95764000-95781000	Strong transcription	Liver	Liver
19	chr2:95764000-95783800	Strong transcription	A549	lung
20	chr2:95764000-95786200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:95764200-95780000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:95764200-95780400	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:95764200-95780800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr2:95764200-95781200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:95764200-95781800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:95764400-95780600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:95764400-95780800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:95764600-95782600	Strong transcription	Primary B cells from peripheral blood	blood
29	chr2:95764600-95784200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:95764800-95772000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:95764800-95772400	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:95764800-95775800	Strong transcription	Primary hematopoietic stem cells	blood
33	chr2:95764800-95776400	Strong transcription	NHLF	lung
34	chr2:95764800-95776600	Strong transcription	Placenta	Placenta
35	chr2:95764800-95776800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:95764800-95780400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:95764800-95780600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:95764800-95780800	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr2:95764800-95780800	Strong transcription	HepG2	liver
40	chr2:95764800-95781000	Strong transcription	Osteobl	bone
41	chr2:95764800-95783600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:95765000-95776600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:95765000-95778600	Strong transcription	HSMM	muscle
44	chr2:95765000-95780000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:95765000-95780600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr2:95765000-95780800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:95765000-95781000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:95765000-95781200	Strong transcription	Duodenum Mucosa	Duodenum
49	chr2:95765000-95781600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:95765000-95783600	Strong transcription	HUES48 Cell Line	embryonic stem cell

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