Variant report

Variant	rs1974253
Chromosome Location	chr1:91794744-91794745
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12562039	0.91[AMR][1000 genomes]
rs12564415	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12567679	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.83[AMR][1000 genomes]
rs12567930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12729858	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12746156	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12749858	0.82[AMR][1000 genomes]
rs12756869	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12757442	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12759453	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12760267	0.91[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1610018	0.82[AMR][1000 genomes]
rs17131418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1822057	0.82[AMR][1000 genomes]
rs2060997	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2099749	0.82[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28395174	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34105527	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34507721	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34600283	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34809593	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34840774	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34999283	0.82[AMR][1000 genomes]
rs35081855	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35462750	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4248874	0.89[AMR][1000 genomes]
rs4658206	0.82[AMR][1000 genomes]
rs4658210	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4658215	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66715895	0.82[AMR][1000 genomes]
rs66730201	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs67955041	0.82[AMR][1000 genomes]
rs920469	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv1800676	chr1:91722083-91854389	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv1796351	chr1:91722083-91872374	Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1006022	chr1:91768640-91831196	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv871685	chr1:91774458-91849219	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv546806	chr1:91780408-91875505	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv437904	chr1:91790876-91801207	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
8	nsv946067	chr1:91793889-91795652	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region lncRNA	2 gene(s)	inside rSNPs	n/a
9	nsv519110	chr1:91794248-91800946	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91773600-91796200	Weak transcription	Fetal Kidney	kidney
2	chr1:91782600-91804800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:91786200-91795000	Weak transcription	Psoas Muscle	Psoas
4	chr1:91788400-91810800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:91788800-91795800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:91791200-91803400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:91791400-91805400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:91792800-91796200	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:91793000-91797000	Weak transcription	Fetal Intestine Large	intestine
10	chr1:91793200-91819400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:91793400-91805600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:91793600-91795800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:91793800-91795400	Strong transcription	Brain Germinal Matrix	brain
14	chr1:91793800-91795600	Strong transcription	Left Ventricle	heart
15	chr1:91793800-91795600	Strong transcription	Ovary	ovary
16	chr1:91793800-91795600	Strong transcription	Pancreas	Pancrea
17	chr1:91793800-91795600	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:91793800-91795600	Strong transcription	Stomach Smooth Muscle	stomach
19	chr1:91793800-91795800	Strong transcription	Fetal Stomach	stomach
20	chr1:91793800-91796000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:91793800-91796600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:91794000-91794800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:91794000-91794800	ZNF genes & repeats	Esophagus	oesophagus
24	chr1:91794000-91794800	Strong transcription	Fetal Intestine Small	intestine
25	chr1:91794000-91795000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:91794000-91795200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:91794000-91795400	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:91794000-91795600	Strong transcription	Fetal Lung	lung
29	chr1:91794000-91796400	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:91794000-91826600	Weak transcription	Fetal Heart	heart
31	chr1:91794200-91794800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
32	chr1:91794200-91795000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:91794200-91795000	Weak transcription	Adipose Nuclei	Adipose
34	chr1:91794200-91795600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr1:91794400-91795000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:91794400-91795200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:91794400-91795400	Weak transcription	Aorta	Aorta
38	chr1:91794400-91795600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:91794400-91795800	Weak transcription	Spleen	Spleen
40	chr1:91794400-91796600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:91794400-91796800	ZNF genes & repeats	Fetal Brain Female	brain
42	chr1:91794400-91802400	Weak transcription	Right Ventricle	heart
43	chr1:91794600-91802400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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