Variant report

Variant	rs3791753
Chromosome Location	chr2:10135068-10135069
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr2:10134746-10135115	H1-hESC	embryonic stem cell:	n/a	chr2:10134900-10134919

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10135064..10137584-chr2:10260509..10262409,2	K562	blood:

Variant related genes	Relation type
GRHL1	TF binding region
ENSG00000272524	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1001215	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1052835	0.83[JPT][hapmap]
rs11246	0.82[JPT][hapmap]
rs11893362	0.96[ASN][1000 genomes]
rs12470881	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12472800	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12475243	0.97[ASN][1000 genomes]
rs12614084	0.90[ASN][1000 genomes]
rs12616347	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12618788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12623004	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1367383	0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1367384	0.96[ASN][1000 genomes]
rs1367388	0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1367389	0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1430621	0.97[ASN][1000 genomes]
rs1465638	0.83[JPT][hapmap]
rs1549752	0.93[ASN][1000 genomes]
rs1549753	0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1549754	0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16867274	0.83[JPT][hapmap]
rs1820964	0.93[ASN][1000 genomes]
rs1835424	0.95[ASN][1000 genomes]
rs1897165	0.93[ASN][1000 genomes]
rs2011516	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2011523	0.93[ASN][1000 genomes]
rs2033326	0.93[ASN][1000 genomes]
rs2163338	0.83[JPT][hapmap]
rs2303920	0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs28444564	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34950562	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35341467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35646916	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36033432	0.93[ASN][1000 genomes]
rs3791749	0.83[JPT][hapmap]
rs3791758	0.93[ASN][1000 genomes]
rs3791760	0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs3828260	0.87[CHB][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4610026	0.91[ASN][1000 genomes]
rs4669511	0.87[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6432047	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6432048	0.93[ASN][1000 genomes]
rs6705493	0.83[JPT][hapmap]
rs6714600	0.96[ASN][1000 genomes]
rs6743918	0.96[ASN][1000 genomes]
rs731453	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7596288	0.92[ASN][1000 genomes]
rs891500	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs930137	0.83[JPT][hapmap]
rs934303	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers 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
6	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription 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 miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv828297	chr2:10109299-10236332	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10101400-10144800	Weak transcription	Brain Germinal Matrix	brain
2	chr2:10101600-10136400	Weak transcription	Brain Angular Gyrus	brain
3	chr2:10102200-10136400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:10113400-10136800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:10113400-10141200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:10115000-10148000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:10124000-10136400	Weak transcription	Hela-S3	cervix
8	chr2:10124400-10139200	Weak transcription	Gastric	stomach
9	chr2:10124800-10143200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:10124800-10149400	Weak transcription	Brain Anterior Caudate	brain
11	chr2:10125000-10140600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:10125000-10147600	Weak transcription	K562	blood
13	chr2:10125000-10149400	Weak transcription	Psoas Muscle	Psoas
14	chr2:10125200-10139200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:10125200-10139200	Weak transcription	Pancreas	Pancrea
16	chr2:10125200-10150000	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:10126000-10144000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:10126200-10139200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:10126400-10141200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:10128000-10142800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:10128000-10146400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:10128600-10140800	Weak transcription	Fetal Brain Male	brain
23	chr2:10130000-10142000	Strong transcription	HepG2	liver
24	chr2:10130800-10135400	Enhancers	Spleen	Spleen
25	chr2:10130800-10138600	Enhancers	Fetal Muscle Leg	muscle
26	chr2:10131600-10141200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:10131600-10149600	Weak transcription	Brain Substantia Nigra	brain
28	chr2:10131800-10137200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:10132200-10145200	Weak transcription	Fetal Intestine Large	intestine
30	chr2:10132200-10146800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:10132400-10146400	Weak transcription	Left Ventricle	heart
32	chr2:10132400-10146800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:10132600-10135800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:10132600-10136600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:10133200-10135400	Weak transcription	Adipose Nuclei	Adipose
36	chr2:10133200-10146400	Weak transcription	Colon Smooth Muscle	Colon
37	chr2:10133400-10144200	Strong transcription	Esophagus	oesophagus
38	chr2:10133600-10135800	Weak transcription	Dnd41	blood
39	chr2:10133800-10135200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr2:10133800-10136000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:10134000-10135400	Enhancers	HUVEC	blood vessel
42	chr2:10134000-10135600	Weak transcription	Liver	Liver
43	chr2:10134000-10145600	Weak transcription	Fetal Kidney	kidney
44	chr2:10134000-10145800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:10134200-10135200	Enhancers	Right Ventricle	heart
46	chr2:10134200-10135400	Enhancers	Right Atrium	heart
47	chr2:10134200-10142000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:10134200-10147000	Weak transcription	HSMMtube	muscle
49	chr2:10134400-10136200	Weak transcription	NHDF-Ad	bronchial
50	chr2:10134400-10137200	Strong transcription	Placenta	Placenta

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