Variant report

Variant	rs16903717
Chromosome Location	chr5:37756165-37756166
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37750239..37752814-chr5:37754556..37757334,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs16903702	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903707	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57810602	1.00[AMR][1000 genomes]
rs57947315	1.00[AMR][1000 genomes]
rs59785719	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59975130	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60584289	1.00[AMR][1000 genomes]
rs60971228	1.00[AMR][1000 genomes]
rs61573892	1.00[AMR][1000 genomes]
rs6862947	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs6898181	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73061728	1.00[AMR][1000 genomes]
rs73061742	1.00[AMR][1000 genomes]
rs73061751	1.00[AMR][1000 genomes]
rs73061771	1.00[AMR][1000 genomes]
rs73061776	1.00[AMR][1000 genomes]
rs73061780	1.00[AMR][1000 genomes]
rs73063799	1.00[AMR][1000 genomes]
rs73063800	1.00[AMR][1000 genomes]
rs73065617	1.00[AMR][1000 genomes]
rs73065632	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73065634	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73065654	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73067718	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73067721	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73067725	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73067728	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7704010	1.00[AMR][1000 genomes]
rs7724612	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37717800-37756200	Weak transcription	Right Ventricle	heart
2	chr5:37721400-37764200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:37728000-37757200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:37728000-37758800	Weak transcription	Brain Germinal Matrix	brain
5	chr5:37730200-37757000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr5:37738400-37757200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:37738800-37756400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:37738800-37757400	Weak transcription	Brain Anterior Caudate	brain
9	chr5:37739000-37757200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr5:37739200-37757600	Weak transcription	A549	lung
11	chr5:37739600-37757200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:37740800-37756200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:37741200-37757400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:37744200-37757200	Weak transcription	Dnd41	blood
15	chr5:37744200-37769200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:37744600-37756800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr5:37744600-37757000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:37744600-37769400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:37745200-37757400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:37748800-37760000	Weak transcription	Fetal Brain Female	brain
21	chr5:37749600-37756800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr5:37750200-37757800	Weak transcription	Colon Smooth Muscle	Colon
23	chr5:37750800-37756800	Weak transcription	Brain Angular Gyrus	brain
24	chr5:37751600-37756600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:37751800-37756400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:37752000-37756200	Weak transcription	NHEK	skin
27	chr5:37752000-37761200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:37752000-37762200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:37752000-37767200	Weak transcription	HSMMtube	muscle
30	chr5:37752200-37756400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr5:37752200-37756400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:37752200-37757200	Weak transcription	HSMM	muscle
33	chr5:37752200-37769200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:37752400-37769200	Weak transcription	NHDF-Ad	bronchial
35	chr5:37752400-37769400	Weak transcription	Osteobl	bone
36	chr5:37753200-37757200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:37753400-37757400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr5:37753400-37758800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr5:37753800-37758800	Weak transcription	Primary B cells from cord blood	blood
40	chr5:37754000-37756600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:37754000-37757400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:37754000-37769200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:37754600-37756600	Strong transcription	Primary T cells from cord blood	blood
44	chr5:37754600-37757200	Weak transcription	Adipose Nuclei	Adipose
45	chr5:37754600-37758000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr5:37754800-37757400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:37754800-37757400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:37755000-37757400	Weak transcription	Fetal Intestine Small	intestine
49	chr5:37755600-37757200	Weak transcription	Fetal Stomach	stomach
50	chr5:37755600-37757400	Weak transcription	Liver	Liver

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