Variant report

Variant	rs6750552
Chromosome Location	chr2:183289611-183289612
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10169102	0.84[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs10197136	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10198076	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10200242	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs10206152	0.84[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs10209382	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10497604	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10931014	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10931015	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs11675519	0.80[EUR][1000 genomes]
rs11681511	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11692649	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12693305	0.82[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12693308	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13003148	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1367202	0.84[CEU][hapmap];0.81[MEX][hapmap]
rs1370667	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1430157	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1430159	0.84[EUR][1000 genomes]
rs1430162	0.84[CEU][hapmap];0.82[CHB][hapmap]
rs1430163	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs1438072	0.88[CEU][hapmap];0.90[YRI][hapmap];0.84[EUR][1000 genomes]
rs1560374	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs16823163	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1992183	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs2053270	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2118485	0.87[EUR][1000 genomes]
rs2368252	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs2368253	0.92[ASW][hapmap];0.88[CEU][hapmap];0.87[TSI][hapmap];0.85[YRI][hapmap];0.84[EUR][1000 genomes]
rs2623439	0.81[EUR][1000 genomes]
rs4643498	0.82[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs59161922	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6433973	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs6718589	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6719036	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs6736414	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7569537	0.82[EUR][1000 genomes]
rs7585752	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7597921	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs833149	0.82[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs833152	0.82[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv834481	chr2:183189758-183339577	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183281600-183290200	Weak transcription	Fetal Brain Female	brain
2	chr2:183284800-183293000	Active TSS	Aorta	Aorta
3	chr2:183285000-183292400	Active TSS	Right Atrium	heart
4	chr2:183285400-183293400	Active TSS	Stomach Smooth Muscle	stomach
5	chr2:183285400-183293800	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr2:183287600-183291400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:183287800-183292200	Active TSS	Fetal Stomach	stomach
8	chr2:183287800-183292200	Active TSS	Rectal Smooth Muscle	rectum
9	chr2:183288400-183290000	Active TSS	Fetal Intestine Small	intestine
10	chr2:183288400-183290000	Active TSS	Right Ventricle	heart
11	chr2:183288400-183290600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:183288600-183290800	Weak transcription	NHDF-Ad	bronchial
13	chr2:183288600-183292200	Active TSS	Colon Smooth Muscle	Colon
14	chr2:183289000-183290000	Active TSS	Left Ventricle	heart
15	chr2:183289000-183290000	Active TSS	Ovary	ovary
16	chr2:183289000-183290000	Active TSS	Psoas Muscle	Psoas
17	chr2:183289000-183291000	Active TSS	Adipose Nuclei	Adipose
18	chr2:183289000-183292000	Active TSS	Fetal Muscle Leg	muscle
19	chr2:183289200-183289800	Active TSS	Small Intestine	intestine
20	chr2:183289200-183290000	Active TSS	Colonic Mucosa	Colon
21	chr2:183289200-183290400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:183289200-183291200	Active TSS	Osteobl	bone
23	chr2:183289200-183292000	Active TSS	Fetal Muscle Trunk	muscle
24	chr2:183289200-183292000	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr2:183289200-183292200	Active TSS	Duodenum Mucosa	Duodenum
26	chr2:183289200-183292200	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr2:183289200-183292200	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr2:183289200-183292800	Active TSS	Fetal Intestine Large	intestine
29	chr2:183289400-183289800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:183289400-183289800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:183289400-183289800	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr2:183289400-183292600	Active TSS	Fetal Kidney	kidney
33	chr2:183289600-183290800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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