Variant report

Variant	rs2288193
Chromosome Location	chr2:152348842-152348843
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152347893..152350567-chr2:152361417..152364168,2	K562	blood:

Variant related genes	Relation type
ENSG00000183091	Chromatin interaction
ENSG00000080345	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10167358	0.84[CEU][hapmap];0.85[CHB][hapmap];0.83[AMR][1000 genomes]
rs10173597	0.81[JPT][hapmap]
rs10173699	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10175134	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1047957	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10497081	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10497082	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1061305	0.87[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11675385	0.82[EUR][1000 genomes]
rs11892439	0.86[CHB][hapmap]
rs12618981	0.91[CEU][hapmap];0.86[CHB][hapmap]
rs12994320	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13393021	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs13393122	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13403719	0.98[ASN][1000 genomes]
rs13425170	1.00[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs13555	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17270233	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17806204	0.91[CEU][hapmap]
rs17806222	0.83[JPT][hapmap]
rs2045025	0.98[ASN][1000 genomes]
rs2342911	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2432942	0.91[ASN][1000 genomes]
rs2432943	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2432945	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2432946	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs2432953	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2432954	0.93[ASN][1000 genomes]
rs2432956	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs2432957	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs2444256	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs2444264	1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs2444267	0.96[ASN][1000 genomes]
rs3771901	0.81[CEU][hapmap];0.83[AMR][1000 genomes]
rs4335940	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4461258	0.90[CEU][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes]
rs4467261	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4500942	0.83[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4592848	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4664438	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4664491	0.86[CHB][hapmap]
rs5024580	0.83[EUR][1000 genomes]
rs6718372	1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6718653	0.99[ASN][1000 genomes]
rs6724796	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs6731486	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs6735771	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72860233	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7587301	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608474	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
6	nsv834418	chr2:152205803-152385516	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
7	nsv933869	chr2:152308156-152391576	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv437298	chr2:152320118-152356361	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv3693428	chr2:152320932-152434896	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2288193	RIF1	cis	Skin Sun Exposed Lower leg	GTEx
rs2288193	RIF1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152267600-152379400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:152304800-152354000	Weak transcription	Spleen	Spleen
3	chr2:152314000-152349400	Weak transcription	Pancreas	Pancrea
4	chr2:152320800-152358600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:152324200-152382400	Weak transcription	Aorta	Aorta
6	chr2:152326400-152367400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:152332000-152350400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:152332400-152350800	Weak transcription	NHDF-Ad	bronchial
9	chr2:152334000-152349400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:152335200-152349400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:152336800-152355000	Strong transcription	Fetal Muscle Leg	muscle
12	chr2:152338200-152356600	Strong transcription	HSMMtube	muscle
13	chr2:152338200-152370000	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:152338400-152349000	Weak transcription	HUVEC	blood vessel
15	chr2:152338600-152358200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:152339400-152350800	Weak transcription	A549	lung
17	chr2:152339600-152354400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:152339800-152350400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:152340400-152349800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:152340400-152350000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:152340400-152371000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:152340600-152364600	Weak transcription	HepG2	liver
23	chr2:152341200-152366200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr2:152341400-152350200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:152341600-152353400	Weak transcription	NHEK	skin
26	chr2:152341600-152390600	Weak transcription	Left Ventricle	heart
27	chr2:152341800-152350000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:152341800-152350400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:152341800-152350800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:152341800-152364400	Weak transcription	Fetal Intestine Small	intestine
31	chr2:152342200-152355000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr2:152342400-152353000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:152342600-152349800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:152342600-152350200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:152342600-152352600	Weak transcription	Lung	lung
36	chr2:152342800-152349800	Weak transcription	Osteobl	bone
37	chr2:152342800-152350600	Weak transcription	Fetal Thymus	thymus
38	chr2:152342800-152366200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:152343000-152360800	Weak transcription	Psoas Muscle	Psoas
40	chr2:152343000-152365200	Weak transcription	Fetal Lung	lung
41	chr2:152343200-152422200	Weak transcription	Primary B cells from cord blood	blood
42	chr2:152343400-152355000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr2:152343400-152366800	Weak transcription	Dnd41	blood
44	chr2:152343400-152371000	Weak transcription	Adipose Nuclei	Adipose
45	chr2:152343400-152373000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr2:152343600-152362400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:152343800-152349000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr2:152344000-152349200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:152344000-152366400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:152345000-152352800	Strong transcription	Fetal Muscle Trunk	muscle

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