Variant report

Variant	rs2297142
Chromosome Location	chr1:92263345-92263346
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92262741..92265780-chr1:92267189..92269576,3	K562	blood:
2	chr1:92258357..92261493-chr1:92263209..92266078,3	K562	blood:
3	chr1:92258357..92261637-chr1:92263209..92266078,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10493858	0.95[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10783036	0.96[YRI][hapmap]
rs10783037	0.96[YRI][hapmap]
rs10874940	1.00[CHB][hapmap]
rs10874941	0.93[CHB][hapmap]
rs10874976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10874981	0.95[YRI][hapmap]
rs10874983	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10874996	0.95[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10874999	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10875001	0.90[CEU][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11165489	1.00[CHB][hapmap]
rs11165532	0.93[CHB][hapmap];0.92[YRI][hapmap]
rs11165560	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11165587	0.81[EUR][1000 genomes]
rs11165594	0.90[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];0.81[EUR][1000 genomes]
rs11466573	0.86[ASN][1000 genomes]
rs12089918	0.90[CEU][hapmap];0.80[CHB][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes]
rs12090296	1.00[CHB][hapmap]
rs12125313	0.89[ASN][1000 genomes]
rs12132114	0.90[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes]
rs12133180	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12756024	0.93[CHB][hapmap]
rs1411276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1473486	0.93[CHB][hapmap]
rs1473488	0.93[CHB][hapmap]
rs2004067	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2129975	0.95[YRI][hapmap]
rs2391068	1.00[CHB][hapmap]
rs2391069	1.00[CHB][hapmap]
rs4658275	0.96[YRI][hapmap]
rs4658276	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5019497	0.93[CHB][hapmap];0.84[JPT][hapmap];0.96[YRI][hapmap];0.86[ASN][1000 genomes]
rs6604054	0.93[CHB][hapmap]
rs6604055	0.93[CHB][hapmap]
rs6604056	0.93[CHB][hapmap];0.83[YRI][hapmap];0.86[ASN][1000 genomes]
rs6669044	1.00[CHB][hapmap]
rs6678564	1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs6683840	0.93[CHB][hapmap]
rs6686126	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs6687561	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6691098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7521065	1.00[CHB][hapmap]
rs7534318	1.00[CHB][hapmap]
rs7536947	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer 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
7	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv949449	chr1:92211020-92585831	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv524845	chr1:92215725-92598705	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv462517	chr1:92215725-92598705	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv546810	chr1:92215725-92598705	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1006318	chr1:92216408-92608324	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv432498	chr1:92218245-92618323	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1004570	chr1:92220544-92622129	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv1007661	chr1:92220544-92655952	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	nsv1014837	chr1:92233905-92618839	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv535031	chr1:92233905-92618839	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv1012134	chr1:92235485-92598800	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
19	nsv546818	chr1:92236048-92579206	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv546819	chr1:92256626-92558583	Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92248200-92268800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:92248600-92268800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:92249200-92263800	Weak transcription	Aorta	Aorta
4	chr1:92250400-92263800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:92253200-92263600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:92254000-92269400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:92257600-92264000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:92257600-92279400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:92257800-92269600	Weak transcription	A549	lung
10	chr1:92258000-92263800	Weak transcription	Esophagus	oesophagus
11	chr1:92258000-92264600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:92258000-92268400	Weak transcription	Fetal Thymus	thymus
13	chr1:92258200-92263800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:92258200-92269400	Weak transcription	Hela-S3	cervix
15	chr1:92258400-92264000	Weak transcription	Pancreas	Pancrea
16	chr1:92258400-92264400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:92258400-92264600	Weak transcription	Fetal Intestine Large	intestine
18	chr1:92258400-92271400	Weak transcription	Fetal Intestine Small	intestine
19	chr1:92258600-92263600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:92258600-92263600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:92258600-92263600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:92258600-92263800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:92258600-92263800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:92258600-92263800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:92258600-92263800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:92258600-92264000	Weak transcription	Brain Anterior Caudate	brain
27	chr1:92258600-92264600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:92258600-92268600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:92258600-92270000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:92258800-92263600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:92258800-92272400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:92259000-92263800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:92259000-92264400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:92260400-92271200	Strong transcription	HepG2	liver
35	chr1:92260600-92264400	Enhancers	Fetal Heart	heart
36	chr1:92260800-92263400	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr1:92260800-92268800	Weak transcription	Small Intestine	intestine
38	chr1:92261800-92263800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:92261800-92268600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:92262000-92263400	Weak transcription	NHEK	skin
41	chr1:92262000-92263600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:92262000-92263600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:92262000-92263600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:92262000-92263600	Strong transcription	Fetal Stomach	stomach
45	chr1:92262000-92263600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:92262000-92263800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:92262000-92263800	Weak transcription	Colon Smooth Muscle	Colon
48	chr1:92262000-92263800	Weak transcription	Psoas Muscle	Psoas
49	chr1:92262000-92264200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:92262000-92264200	Weak transcription	Fetal Lung	lung

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