Variant report

Variant	rs2973716
Chromosome Location	chr5:177798612-177798613
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:177790380..177792280-chr5:177796021..177798764,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2910114	1.00[CEU][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2910118	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2910119	0.82[CHB][hapmap]
rs2910121	0.82[EUR][1000 genomes]
rs2973713	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs2973715	1.00[CEU][hapmap];0.85[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2973717	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs2973719	1.00[CEU][hapmap];0.85[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2973720	1.00[CEU][hapmap];0.86[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2973724	0.91[CEU][hapmap];0.86[JPT][hapmap]
rs2973726	1.00[CEU][hapmap];0.86[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2973731	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
4	nsv1021981	chr5:177620372-177825272	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
5	nsv537967	chr5:177620372-177825272	Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
6	nsv1024689	chr5:177638936-177926244	Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv537968	chr5:177638936-177926244	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1027165	chr5:177693601-177843314	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv427739	chr5:177766033-177966666	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv883210	chr5:177771925-177980792	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv883211	chr5:177787515-177820134	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv462569	chr5:177787515-177821665	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv600398	chr5:177787515-177821665	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv883212	chr5:177790952-177820134	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177797800-177800600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr5:177798200-177798800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr5:177798200-177798800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:177798200-177798800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:177798200-177798800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:177798200-177798800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:177798200-177798800	Enhancers	Right Atrium	heart
8	chr5:177798200-177799000	Enhancers	Fetal Lung	lung
9	chr5:177798200-177799000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr5:177798200-177799200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:177798200-177799200	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr5:177798200-177799800	Enhancers	Placenta	Placenta
13	chr5:177798200-177800400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr5:177798400-177798800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:177798400-177798800	Enhancers	Adipose Nuclei	Adipose
16	chr5:177798400-177798800	Enhancers	Aorta	Aorta
17	chr5:177798400-177798800	Enhancers	Left Ventricle	heart
18	chr5:177798400-177798800	Enhancers	Spleen	Spleen
19	chr5:177798400-177799000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:177798400-177799000	Enhancers	Stomach Smooth Muscle	stomach
21	chr5:177798400-177799200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
22	chr5:177798400-177799400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:177798400-177799400	Enhancers	Right Ventricle	heart
24	chr5:177798400-177799600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr5:177798400-177799600	Enhancers	Colonic Mucosa	Colon
26	chr5:177798400-177799800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr5:177798400-177799800	Enhancers	Ovary	ovary
28	chr5:177798600-177798800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:177798600-177798800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr5:177798600-177798800	ZNF genes & repeats	Thymus	Thymus
31	chr5:177798600-177799000	Enhancers	Brain Hippocampus Middle	brain
32	chr5:177798600-177799000	Enhancers	Brain Substantia Nigra	brain
33	chr5:177798600-177799200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr5:177798600-177799200	Enhancers	Fetal Thymus	thymus
35	chr5:177798600-177799400	Enhancers	Brain Anterior Caudate	brain
36	chr5:177798600-177799600	Enhancers	Brain Cingulate Gyrus	brain
37	chr5:177798600-177800400	Bivalent Enhancer	Fetal Stomach	stomach
38	chr5:177798600-177804800	Weak transcription	Gastric	stomach

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