Variant report

Variant	rs4702100
Chromosome Location	chr5:15694620-15694621
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10044254	0.80[CEU][hapmap]
rs10520821	0.93[CEU][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11133822	0.86[YRI][hapmap]
rs11133823	0.86[YRI][hapmap]
rs11950539	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11951416	0.86[LWK][hapmap];0.83[MKK][hapmap];0.86[YRI][hapmap]
rs12153463	0.86[YRI][hapmap]
rs12515897	0.87[CEU][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12519807	0.87[CEU][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap];0.89[MEX][hapmap];0.98[MKK][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12653727	0.93[CEU][hapmap];0.85[AMR][1000 genomes]
rs12659413	0.84[GIH][hapmap];0.89[MEX][hapmap];0.98[MKK][hapmap];0.86[AMR][1000 genomes]
rs13172068	0.84[AMR][1000 genomes]
rs13358928	0.82[CEU][hapmap];0.90[CHB][hapmap]
rs1394656	0.80[CEU][hapmap]
rs1394657	0.80[CEU][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16867540	0.86[YRI][hapmap]
rs2937073	0.87[CEU][hapmap];0.89[MEX][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2938832	0.80[CEU][hapmap]
rs4235553	0.85[ASW][hapmap];0.93[CEU][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.96[TSI][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4273602	0.84[GIH][hapmap];0.89[MEX][hapmap];0.98[MKK][hapmap];0.86[AMR][1000 genomes]
rs4293917	0.87[CEU][hapmap];0.81[GIH][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4461631	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4475263	0.87[CEU][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4601044	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4701638	0.86[YRI][hapmap]
rs4701641	0.83[YRI][hapmap]
rs6554897	0.80[CEU][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6554899	0.88[AMR][1000 genomes]
rs6554900	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6554901	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6554902	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6884087	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6885069	0.85[ASW][hapmap];0.87[CEU][hapmap];0.88[LWK][hapmap];0.89[MEX][hapmap];0.86[MKK][hapmap];0.82[TSI][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6892414	0.82[YRI][hapmap]
rs7704590	1.00[ASW][hapmap];0.93[CEU][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.92[TSI][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7707563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7720498	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7725413	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7732283	0.85[ASW][hapmap];1.00[CEU][hapmap];0.81[CHD][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.96[TSI][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7736983	0.84[AMR][1000 genomes];0.81[EUR][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	chr5:15690200-15695000	Enhancers	NHDF-Ad	bronchial
4	chr5:15690800-15695800	Enhancers	Brain Anterior Caudate	brain
5	chr5:15690800-15696200	Enhancers	Ovary	ovary
6	chr5:15690800-15696400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:15691400-15695200	Weak transcription	Aorta	Aorta
8	chr5:15691800-15694800	Weak transcription	HSMM	muscle
9	chr5:15691800-15695000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:15692600-15695400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:15692600-15695800	Enhancers	Brain Hippocampus Middle	brain
12	chr5:15692600-15696200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:15692800-15696000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:15693000-15694800	Enhancers	Right Atrium	heart
15	chr5:15693000-15696400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:15693200-15695200	Weak transcription	Lung	lung
17	chr5:15693200-15695600	Enhancers	Brain Substantia Nigra	brain
18	chr5:15693200-15701000	Enhancers	Fetal Heart	heart
19	chr5:15693400-15696200	Enhancers	Colon Smooth Muscle	Colon
20	chr5:15693400-15696200	Enhancers	Fetal Muscle Leg	muscle
21	chr5:15693600-15695800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr5:15693800-15696000	Enhancers	Fetal Stomach	stomach
23	chr5:15693800-15696400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr5:15694000-15695800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:15694000-15695800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr5:15694000-15695800	Enhancers	Brain Angular Gyrus	brain
27	chr5:15694000-15696000	Enhancers	Fetal Kidney	kidney
28	chr5:15694000-15696000	Enhancers	Rectal Smooth Muscle	rectum
29	chr5:15694000-15696200	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr5:15694200-15694800	Enhancers	Stomach Smooth Muscle	stomach
31	chr5:15694200-15695600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr5:15694200-15695600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr5:15694200-15695600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr5:15694200-15695600	Enhancers	Brain Cingulate Gyrus	brain
35	chr5:15694200-15695600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr5:15694200-15695800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:15694200-15695800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:15694200-15695800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr5:15694200-15695800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:15694200-15695800	Enhancers	Fetal Intestine Small	intestine
41	chr5:15694200-15696000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:15694200-15696000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:15694200-15696000	Enhancers	Adipose Nuclei	Adipose
44	chr5:15694200-15696000	Enhancers	Placenta Amnion	Placenta Amnion
45	chr5:15694200-15696000	Enhancers	Small Intestine	intestine
46	chr5:15694200-15696000	Enhancers	HSMMtube	muscle
47	chr5:15694200-15696200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:15694200-15696200	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr5:15694400-15694800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr5:15694400-15695400	Enhancers	Fetal Lung	lung

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