Variant report

Variant	rs6554895
Chromosome Location	chr5:15695159-15695160
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11133822	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];0.92[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11133823	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11748700	0.88[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11958262	0.81[CHB][hapmap]
rs12152734	0.83[ASW][hapmap];0.83[LWK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs12153747	0.86[AFR][1000 genomes]
rs12655356	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13170407	0.87[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1505034	0.89[CHB][hapmap];0.85[CHD][hapmap]
rs1505037	0.89[CHB][hapmap];0.85[CHD][hapmap];0.81[TSI][hapmap]
rs16867538	0.94[ASW][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];0.89[LWK][hapmap];0.90[YRI][hapmap]
rs16867540	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17602392	0.96[CEU][hapmap];0.87[CHB][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17602470	0.96[CEU][hapmap];0.94[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1909722	0.89[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.88[TSI][hapmap]
rs2937072	0.89[CHB][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap]
rs2964267	0.89[CHB][hapmap];0.88[CHD][hapmap];0.87[GIH][hapmap];0.81[TSI][hapmap]
rs4133004	0.87[CEU][hapmap];0.94[CHB][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4235556	0.88[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.83[MEX][hapmap];0.88[MKK][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4273603	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4289558	0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4320259	0.88[CEU][hapmap];0.94[CHB][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4330464	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4374756	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4391163	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4391164	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4407633	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.89[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4435862	0.88[CEU][hapmap];0.81[CHB][hapmap];0.82[AMR][1000 genomes]
rs4505949	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4582274	0.95[CEU][hapmap];0.94[CHB][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4590179	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4701637	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4701639	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs4702099	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.92[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4702102	1.00[YRI][hapmap]
rs56130171	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6554893	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6554894	0.81[EUR][1000 genomes]
rs6554898	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6875955	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.83[LWK][hapmap];0.83[MEX][hapmap];0.99[MKK][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6891925	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6898184	0.95[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7704277	0.94[ASW][hapmap];0.87[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.91[LWK][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7707563	0.86[YRI][hapmap]
rs7713553	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7713555	0.94[CHB][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7724782	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7733271	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs924455	0.94[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516929	chr5:15087791-15870300	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1023068	chr5:15095221-15863583	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv869040	chr5:15097602-15866117	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv530222	chr5:15151662-15851485	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv830214	chr5:15589809-15791032	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3507774	chr5:15593461-15822407	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3507776	chr5:15593461-15822407	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1028089	chr5:15636285-15883910	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv537676	chr5:15636285-15883910	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1024248	chr5:15638067-15863583	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv537677	chr5:15638067-15863583	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv880755	chr5:15670377-15938553	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
13	nsv597263	chr5:15672137-15720478	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv461983	chr5:15674635-15720106	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv597264	chr5:15674635-15720106	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	esv2757107	chr5:15678556-15810987	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	esv2759327	chr5:15678556-15810987	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv432718	chr5:15688927-15723346	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15684000-15695200	Weak transcription	HUVEC	blood vessel
2	chr5:15688400-15704200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:15690800-15695800	Enhancers	Brain Anterior Caudate	brain
4	chr5:15690800-15696200	Enhancers	Ovary	ovary
5	chr5:15690800-15696400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:15691400-15695200	Weak transcription	Aorta	Aorta
7	chr5:15692600-15695400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:15692600-15695800	Enhancers	Brain Hippocampus Middle	brain
9	chr5:15692600-15696200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:15692800-15696000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:15693000-15696400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:15693200-15695200	Weak transcription	Lung	lung
13	chr5:15693200-15695600	Enhancers	Brain Substantia Nigra	brain
14	chr5:15693200-15701000	Enhancers	Fetal Heart	heart
15	chr5:15693400-15696200	Enhancers	Colon Smooth Muscle	Colon
16	chr5:15693400-15696200	Enhancers	Fetal Muscle Leg	muscle
17	chr5:15693600-15695800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr5:15693800-15696000	Enhancers	Fetal Stomach	stomach
19	chr5:15693800-15696400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr5:15694000-15695800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr5:15694000-15695800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:15694000-15695800	Enhancers	Brain Angular Gyrus	brain
23	chr5:15694000-15696000	Enhancers	Fetal Kidney	kidney
24	chr5:15694000-15696000	Enhancers	Rectal Smooth Muscle	rectum
25	chr5:15694000-15696200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr5:15694200-15695600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr5:15694200-15695600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr5:15694200-15695600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr5:15694200-15695600	Enhancers	Brain Cingulate Gyrus	brain
30	chr5:15694200-15695600	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr5:15694200-15695800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:15694200-15695800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:15694200-15695800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr5:15694200-15695800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:15694200-15695800	Enhancers	Fetal Intestine Small	intestine
36	chr5:15694200-15696000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:15694200-15696000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr5:15694200-15696000	Enhancers	Adipose Nuclei	Adipose
39	chr5:15694200-15696000	Enhancers	Placenta Amnion	Placenta Amnion
40	chr5:15694200-15696000	Enhancers	Small Intestine	intestine
41	chr5:15694200-15696000	Enhancers	HSMMtube	muscle
42	chr5:15694200-15696200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:15694200-15696200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr5:15694400-15695400	Enhancers	Fetal Lung	lung
45	chr5:15694400-15695400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr5:15694400-15695400	Weak transcription	Psoas Muscle	Psoas
47	chr5:15694400-15695800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr5:15694400-15696200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:15694400-15696200	Enhancers	NHLF	lung
50	chr5:15694400-15696400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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